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Objective To assess the prevalence and characteristics of epilepsy in patients with macroprolactinomas. Secondly, to report the response to dopamine agonist (DA) therapy. Patients A case note analysis of all patients with a diagnosis of macroprolactinoma attending a neuroendocrine clinic between 1996 and 2006. Those with epilepsy at diagnosis of macroprolactinoma were examined in detail. Results There were 64 patients with macroprolactinoma and 29 of these had tumours with suprasellar extension compressing/invading the optic apparatus and/or surrounding brain structures. Six of these 29 patients (four men), had a history of seizures at the time of diagnosis, five of whom had features suggestive of temporal lobe epilepsy. None of the other 35 patients had epilepsy. All six patients with epilepsy had invasive prolactinomas on cranial imaging and marked hyperprolactinaemia (median prolactin 369 000 mU/l, range 28 000 to > 750 000). Seizures had been present for a median of 2 years (range 1–23 years) before the diagnosis of macroprolactinoma. A rapid reduction in seizure frequency occurred in all patients with initiation of DA therapy. Four have been seizure-free between 18 months to 15 years despite only small reductions in tumour size. Conclusions Invasive macroprolactinomas can commonly be associated with epilepsy, particularly of temporal lobe origin. It is essential to enquire about epileptic symptoms, as the seizure disorder may have been undiagnosed/untreated for years. DA therapy can reduce ictal frequency and the doses of anti-epileptic drugs. Complete freedom from epilepsy can also occur. [ABSTRACT FROM AUTHOR]

Purpose: Obesity is a common consequence in patients with tumors of the hypothalamic region and of related treatment in children. Much less information is available on adult patients and long-term survivors. The aims of this study were to estimate the prevalence of obesity in adult patients with acquired structural hypothalamic damage and to define the characteristics of patients at greatest risk of obesity. Methods: A retrospective study was conducted of 52 patients (25 women; median age at diagnosis, 44 years; range, 17 to 78 years) with tumors involving the hypothalamic region. These included 22 craniopharyngiomas, 24 pituitary adenomas, and six other hypothalamic tumors. Changes in body mass index were determined, magnetic resonance imaging scans were scored by a radiologist for tumor size and the extent of involvement of the hypothalamus, and current hormone replacement therapy was recorded, to identify possible features associated with new or worsened obesity (defined as a body mass index ≥30 kg/m2 at the latest follow-up, which had increased by at least 2 kg/m2 since diagnosis of the tumor). Results: Serial body mass index data from diagnosis to the latest follow-up were available for 42 patients. After a median of 5 years (range, 1 to 19 years) of follow-up, most patients with hypothalamic damage were obese (52% [n = 22] vs. 24% [n = 10] at the time of diagnosis, P < 0.0001). In a multivariate model, use of desmopressin (odds ratio [OR] = 13; 95% confidence interval [CI]: 2.0 to 86; P = 0.007) and growth hormone replacement (OR = 7.6; 95% CI: 1.1 to 51; P = 0.04) were associated with new or worsened obesity during follow-up. No correlation was found between the initial size or location of the tumor and subsequent weight gain. Conclusion: Obesity is highly prevalent in adult survivors of hypothalamic tumors. Use of desmopressin and growth hormone therapy, but not size or location of the tumor, were associated with weight gain and obesity following diagnosis. These findings may be helpful in identifying patients at increased risk of obesity, to whom earlier intervention could be offered. [Copyright &y& Elsevier]

Ghrelin is the natural ligand of the growth hormone secretagogue receptor (GHS-R) and potently stimulates GH release in humans. Ghrelin is found in the hypothalamus, but most circulating ghrelin is derived from the stomach. Ghrelin stimulates food intake but circulating levels are low in obesity. We hypothesized that GH deficiency (GHD) might be associated with increased circulating ghrelin concentrations as a result of low GH levels. We therefore measured circulating ghrelin concentrations, leptin and body composition in subjects with GHD and healthy controls. Subjects with GHD ( n = 18) were compared to healthy control subjects ( n = 18), matched for body mass index (BMI). They underwent assessment of body composition [waist circumference, BMI and percentage body fat (using bioimpedance)]. Plasma ghrelin, leptin, insulin, GH and IGF-1 were measured in the fasting state. Plasma ghrelin was measured using a specific radioimmunassay, and the other hormones using commercially available assays. The groups were well-matched for BMI (GHD vs. control; 32·9 ± 10·8 vs. 31·3 ± 11·7, P = ns) and waist circumference (GHD vs. control; 102·9 ± 20·0 vs. 99·8 ± 25·2, P = ns), but percentage body fat (GHD vs. control; 37·0 ± 9·1 vs. 29·4 ± 13·0, P = 0·06) tended to be higher in the GHD group. As expected, IGF-1 was lower in GHD (GHD vs. control; 12·5 ± 6·8 vs. 19·2 ± 5·8 nmol/l, P = 0·003). Ghrelin [GHD vs. controls; geometric mean (95% CI); 828·8 (95% CI 639·9–1074·2) vs. 487·9 (95% CI 297·2–800·2) pmol/l] and leptin [GHD vs. controls; 13·2 (95% CI 6·6–26·5) vs. 7·9 (95% CI 3·7–16·9) ng/ml] were similar in the two groups. Plasma ghrelin correlated inversely with waist circumference and waist hip ratio in GHD subjects ( r = −0·6, P = 0·02) but not with IGF-1 or GH concentrations. There was no significant correlation in the control subjects. Circulating ghrelin concentrations are influenced by body fat distribution, but not by levels of either GH or IGF-1. However, given that obesity is associated with reduced ghrelin concentrations and that GHD is commonly associated with increased body fat, it is possible that these two opposing influences on circulating ghrelin levels result in normal concentrations in subjects with GHD. [ABSTRACT FROM AUTHOR]

OBJECTIVE Growth hormone (GH) deficiency is associated with increased cardiovascular morbidity and mortality. Abnormalities in heart rate variability (HRV), a surrogate marker of cardiac autonomic tone, have also been found in untreated growth hormone deficient (GHD) patients. Similar abnormalities have been found in patients with complications postmyocardial infarction. DESIGN AND MEASUREMENTS This study was designed to investigate whether GH treatment leads to normalization of cardiac autonomic tone. HRV measurements were obtained from 15 minute resting ECG recordings in 11 untreated adult GHD patients (7 females; mean age 39·2 years), 10 GHD patients (6 females; mean age 46·2 years) reCENving GH replacement (mean duration, 52·7 months) and 12 healthy controls (7 females; mean age 44·6 ± 2·9 years) who were all of similar age, weight and BMI. The untreated GHD patients were then commenced on GH and HRV measurements repeated after 3 and 6 months of treatment. RESULTS In accord with our previous findings, HRV analysis using Fast Fourier Transform (FFT) showed a distinct pattern of abnormality in GHD patients compared with controls. Specifically, there was an increase in nHF power (P = 0·04) and a reduction in nLF power (P = 0·04) (representing parasympathetic and sympathetic activity, respectively), a reduction in nVLF power (P = 0·03) and a 50% reduction in LF/HF ratio (P = 0·02) (a measure of sympathovagal balance) in GHD patients when compared with controls. HRV results in patients who have been on long-term GH replacement were indistinguishable from controls. After 3 months GH replacement in the untreated GHD patient group, nVLF power had increased by 28% (P = 0·03) at 3 months and this was sustained at 6 months. However, no significant changes in LF and HF power were seen. CONCLUSIONS These results suggest that abnormalities of the cardiac autonomic system in GHD patients may be correctable. Longer duration of prospective follow-up will be required to determine at what time point improvements in the other frequency bands occur. [ABSTRACT FROM AUTHOR]

OBJECTIVE The management of CSF rhinorrhoea following dopamine agonist (DA) treatment for invasive prolactinomas is difficult and there is no clear consensus for its treatment. Our objective was therefore to investigate the different treatments for this condition. DESIGN AND PATIENTS We examined the case notes of five patients with invasive prolactinomas and CSF rhinorrhoea following DA treatment. The different ways in which this complication had been managed is detailed along with a review of the literature. RESULTS Five patients aged 24–67 years (3 male) with massive invasive prolactinomas (serum prolactin 95000–500000 mU/l) eroding the skull base were treated with dopamine agonists (3 bromocriptine, 1 cabergoline and 1 both). CSF rhinorrhoea developed in all patients between 1 week and 4 months after commencing dopamine agonist treatment. In two patients (cases 1 and 4), CSF rhinorrhoea ceased within a few days of stopping bromocriptine but restarted when treatment was resumed. One of these (case 4), a 67-year-old woman had no further treatment and CSF leakage stopped completely. She died of unrelated medical problems 3 years later. In one patient staphylococcus aureus meningitis and pneumocephalus developed as a complication of CSF rhinorrhoea. Three patients had endoscopic nasal surgery to repair the fistula using muscle grafts, and to decompress the pituitary tumour, with success in two. One patient had intracranial surgery and dural repair, which was successful in sealing the leak. CONCLUSIONS We suggest that surgery as soon as is feasible is the treatment of choice for the repair of a CSF leak following dopamine agonist treatment. An additional strategy is the withdrawal of dopamine agonist to allow tumour re-growth to stop the leak. [ABSTRACT FROM AUTHOR]

Introduction: In over 50 years since the genetic counseling (GC) profession began, a systematic study of GC communication skills and patient-reported outcomes in actual sessions across multiple clinical specialties has never been conducted. To optimize GC quality and improve efficiency of care, the field must first be able to comprehensively measure GC skills and determine which skills are most critical to achieving positive patient experiences and outcomes. This study aims to characterise GC communication skills using a novel and pragmatic measure and link variations in communication skills to patient-reported outcomes, across clinical specialties and with patients from diverse backgrounds in the USA. Our community-engagement and provider-engagement approach is crucial to develop recommendations for quality, culturally informed GC care, which are greatly needed to improve GC practice., Methods and Analysis: A mixed methods, sequential explanatory design will be used to collect and analyze: audio-recorded GC sessions in cancer, cardiac, and prenatal/reproductive genetic indications; pre-visit and post-visit quantitative surveys capturing patient experiences and outcomes and post-visit qualitative interview data. A novel, practical checklist will measure GC communication skills. Coincidence analysis will identify patterns of GC skills that are consistent with high scores on patient-reported measures. Two-level, multilevel models will be used to evaluate how GC communication skills and other session/patient characteristics predict patient-reported outcomes. Four community advisory boards (CABs) and a genetic counselor advisory board will inform the study design and analysis., Ethics and Dissemination: This study has been approved by the single Institutional Review Board of the University of Minnesota. This research poses no greater than minimal risk to participants. Results from this study will be shared through national and international conferences and through community-based dissemination as guided by the study's CABs. A lay summary will also be disseminated to all participants., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Professional guidelines generally caution against carrier testing in minors, though prior research indicates parents request and providers sometimes facilitate testing for unaffected siblings of a child affected by a genetic disorder. We investigated the perspectives of genetic counselors in North America regarding carrier testing prior to adolescence. Practicing genetic counselors (n = 177) responded to an electronic survey assessing their willingness to facilitate testing in four hypothetical scenarios and their evaluation of parental motivations. Participants did not find parental arguments for testing persuasive, and most were unwilling to facilitate carrier testing in children. A significant interaction effect indicated the presence of nonactionable carrier-associated health risks in adulthood made participants significantly less hesitant when the mode of inheritance was X-linked. Participants considered parental motivations that center the child's interests as significantly more persuasive. This study suggests genetic counselors are resistant to carrier testing for familial disorders in young children and tend to align with current guidelines, yet they recognize nuance in various cases. Further investigation into this topic is warranted to support genetic counselors facing these requests as the ethics of pediatric carrier testing continues to be debated., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Genetic counseling research requires a comprehensive approach since it frequently serves as the foundation for clinical care practice. Genetic counseling students play a pivotal role in advancing the profession, as they contribute a significant proportion of the research conducted within the genetic counseling community. However, a prevailing trend of convenience sampling of genetic counselors has limited the diversity of perspectives in student research projects. This article promotes a strategy for greater inclusivity and equity in research by emphasizing community-engaged and empowered research through the perspective of restorative justice. Reflecting on the shadow of the harmful ideologies of eugenics in our profession underscores the need to amplify patients' voices and diverse experiences. Community-engaged research-in collaboration with individuals, families, and communities directly impacted by genetic counseling-transcends traditional research paradigms, empowering patients and addressing systemic inequities. Incorporating community-engaged research into genetic counseling student projects aims to empower future professionals to better understand patient perspectives and needs while working toward addressing historical injustices. This article explores the potential benefits and pathways of incorporating community-engaged research and restorative justice principles into genetic counseling scholarly work, promoting empathy, cultural responsiveness, and ultimately, a more patient-centered approach to research and clinical care. By embracing this collective journey toward authentic partnership in the production of high-quality evidence in genetic counseling student research and more broadly, genetic counseling can become a more just and inclusive practice., (© 2024 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Students in higher education who identify as Black, Indigenous, and people of color (BIPOC) experience racism, discrimination, and microaggressions through tokenization, hypervisibility, invisibility, and marginalization. The experiences of BIPOC genetic counseling students with curriculum, clinical training, and sense of belonging also differ. Therefore, there is a large need for understanding how support is defined by BIPOC genetic counseling students, and then how to integrate specific aspects of training into a practical framework for programs to address racism and the resulting emotional implications. This study aimed to define current practices of support and identify gaps in genetic counseling programs as described by BIPOC students. BIPOC genetic counseling students (N = 40) were recruited through Listserv, social media, and Slack channels to complete an online survey eliciting demographic data, perspectives on support, and available support resources. The online survey consisted of 22 open- and closed-ended questions. Data were collected over a 5-week period. Open-ended responses were coded by thematic analysis and audited. The top three supports were as follows: (1) presence of other BIPOC students; (2) presence of BIPOC faculty; and (3) financial funding. Participants' individual definitions of support indicated that each student defined support in a unique way. Most participants defined understanding and empathy stemming from peers, supervisors, and faculty within the program setting as important aspects of overall support. The majority of participants felt somewhat or strongly supported in areas of training. The area with the least support was within rotation/fieldwork experiences. Programs should consider social- and program-level support combined with emotional support. Individualized support for every student is needed while avoiding assumptions about their identity and support needs. Training programs may consider a balance of efforts to prioritize recruiting more BIPOC faculty and students and providing the outlined support and funding resources for their students., (© 2024 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Genetic counselors are valuable members of research teams and are increasingly taking leadership roles in major research trials. While the field of genetic counseling has explored a doctoral degree several times, the terminal degree is still a master's level. Genetic counseling training programs provide research training, but many genetic counselors desire additional opportunities to develop expertise. To address the gaps in the availability of research training before and after obtaining genetic counseling degrees, we applied for and received a grant centered around three aims: (1) develop an undergraduate minor in genomics and human health with a research component, (2) promote a rigorous genetic counseling research program for training to practice genetic counselors, and (3) initiate a combined PhD program in Molecular, Cellular, Developmental Biology, and Genetics (MCDB&G) with a track in genetic counseling. We describe each of these components and early progress toward these aims. As each individual aim is bearing fruit, the next challenges are implementing more crossover between people in each aim and distilling the lessons learned to see if this program could be replicated at other sites., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Research shows religiosity and spirituality (R/S) influence genetic counseling patients' and families' risk perception, decision-making, and coping. No published studies have examined how genetic counselors respond to patient-initiated R/S statements. This exploratory study examined genetic counselors' response types and reasons for their responses to two prenatal patient's R/S statements. Genetic counselors (n = 225) recruited through a National Society of Genetic Counselors eblast completed a survey containing two hypothetical scenarios regarding a prenatal patient's receipt of a trisomy 18 diagnosis. Scenarios were identical except for the last patient statement: "God makes everything possible…we leave things in his hands" (a deferring statement) or "I feel like God is punishing me for something I did" (an attributing statement). Imagining they were the counselor, participants wrote a response to each scenario and provided reasons for their response. Responses were analyzed using the Helping Skills Verbal Response System. MANOVA and chi-square tests, examining differences in response type based on patient statement (deferring or attributing), participant comfort with R/S, and years of experience, yielded a significant multivariate effect for scenario (p < 0.001). Responses to the deferring statement scenario contained a greater proportion of content statements (p < 0.001), closed questions (p < 0.001), and information-giving (p < 0.001). Responses to the attributing statement scenario contained a greater proportion of open questions (p = 0.05), influencing statements (p < 0.001), and affective statements (p = 0.006). Neither comfort with R/S nor genetic counseling experience significantly affected response type. Thematic analysis of reasons for responses yielded nine themes. Most prevalent were exploration (of the patient's statement), validation, correction (of patient's beliefs), and reassurance. The findings reflect stylistic differences in how and why genetic counselors respond to patients., (© 2022 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Research indicates genetic counseling patients often experience intense emotions. No studies, however, have investigated how genetic counseling students respond to patient affect. This survey study investigated student responses to patient emotions and select factors affecting their responses. One-hundred fifty-one genetic counseling students in North American programs wrote a response to each of three hypothetical prenatal scenarios, identical except for the patient affect expressed (anger, fear, or sadness). They also completed measures of empathy tendency and tolerance of negative affect and demographic questions. Multivariate analysis of covariance (MANCOVA), used to analyze the effects of major study variables on the types of responses given by participants, was significant. Follow-up univariate ANCOVAs indicated small to moderate effect sizes for student clinical experience, race/ethnicity, and relationship status within and across scenarios. For example, as number of patients counseled increased, participants used more feeling reflections and fewer self-involving statements. There were no significant differences in responses due to empathy tendency or affect tolerance. Most common responses were information provision and feeling reflections for the Anger scenario, information provision for the Fear scenario, and influencing responses for the Sadness scenario. Responses to each scenario typically involved multiple thoughts (range: 1-14; means ranged from 3.25 in the Sadness scenario to 3.62 in the Fear scenario). Most students (82%) reported the Anger scenario was the most difficult. Thematic analysis of reasons a scenario was difficult yielded four themes: Discomfort with situation/emotion, Positive countertransference, Uncertain how to respond, and Negative countertransference. Findings that clinical experience affects how participants responded to patient affect support the essential role of applied experience. Findings also support training and supervision to help genetic counseling students in North America learn ways to respond to strong patient emotions and recognize and manage countertransference., (© 2021 National Society of Genetic Counselors.)

Familial hypercholesterolemia (FH) is an inherited condition resulting in increased risk of premature cardiovascular disease. This risk can be reduced with early diagnosis and treatment, but it can be challenging to identify individuals with FH. Cascade screening, the most efficient and cost-effective identification method, requires FH patients to communicate with their at-risk family and encourage them to pursue screening. Beyond FH, patients with conditions increasing disease risk to family members report barriers to the communication process such as insufficient knowledge of the condition and discomfort informing relatives. We conducted a pilot study of a genetic counseling intervention incorporating behavior-change principles from motivational interviewing (MI) and the extended parallel process model (EPPM) to help parents of children with FH overcome these barriers and improve cascade screening rates for FH. Of the 13 participants who completed the intervention and post-intervention surveys, 6 reported contacting and/or screening additional relatives. A large effect size in increasing communication and screening was observed (η 2  = 0.20), with the mean percent of at-risk relatives contacted rising from 33% to 45%, and the mean percent screened rising from 32% to 42%. On average, 2.23 new relatives were contacted and 2.46 were screened, per participant, by the end of the study. Direct content analysis revealed that despite the open-ended nature of the goal-setting process, participant goals fell into two categories including those who set goals focused on communicating with and screening family members (n = 9) and those who set goals only focused on managing FH (n = 4). Overall, the communication and screening rates reported after the intervention were higher than previous observations in adult FH populations. These results suggest this EPPM/MI genetic counseling intervention could be a useful tool for increasing communication and cascade screening for FH. With further research on goal-setting techniques, the intervention could be refined and replicated to identify more individuals affected by FH or modified for use with other actionable genetic conditions., (© 2021 National Society of Genetic Counselors.)

The COVID-19 pandemic has affected all aspects of our lives. The full impact of the pandemic is still unfolding and will take years to fully understand. This longitudinal study followed a sample of 189 genetic counselors from June to November of 2020, starting with an online retrospective baseline survey of pre-COVID-19 functioning and continuing with a monthly online survey (average retention = 89.2%) to assess changes in self-reported stress, employment status, billing practices, self-efficacy, and their use of telehealth. Participants were recruited from specific states representing geographic diversity with publicly available databases of contact information as well as social media. The sample was largely reflective of the professional demographics reported in the 2020 Professional Status Survey (PSS). Comparisons were made between the PSS, baseline assessment of pre-COVID-19 status, June, and November data. Genetic counselor workload did not significantly change in terms of hours worked from baseline to November, though patients served per week dropped initially before returning to pre-COVID-19 levels. Genetic counselors were increasingly working remotely and supervising students less frequently in November compared to pre-COVID-19 baseline. Approximately 50% of the sample were unable to bill for services throughout the study period, with billing practices not changing during this time. Approximately 40% experienced a negative employment change in June, which dropped to ~10% in November. Personal and family stress levels were elevated during the study period, while financial stress increased from baseline to June it returned to pre-COVID-19 levels by November. Self-efficacy for common genetic counseling skills decreased from baseline to June but returned to baseline levels by November. The results suggest the workforce faced transitions but has rebounded in most areas studied. The pandemic highlighted pre-existing billing issues, and the current billing structures were not able to shift in the face of practice transitions. The long-term implications of the pandemic remain to be seen, but the results indicate returns toward baseline data in most areas with the exceptions of supervision, personal and family stress, and billing., (© 2021 National Society of Genetic Counselors.)

While genetic counselor (GC) utilization of telehealth has increased in recent years, the onset of the COVID-19 pandemic significantly accelerated the adoption of telehealth for many. We investigated GC experiences with telehealth including perceived advantages, disadvantages, and barriers using a one-time online survey of GCs who provided direct patient care in recent years. The survey examined experiences with telehealth before and after the onset of COVID-19. We made broad comparisons to findings from a similar study our research team conducted five years ago. GCs reported an increase in the utilization of telehealth over time, with significant increases from pre-2017 (44%) to pre-COVID-19 (70%) and then to present (87%) (p<.001 and .02, respectively). There was no significant change in the total number of hours worked from pre-COVID-19 to the time of survey completion, nor were there significant changes in the amount of time spent on clinical responsibilities or interfacing with patients. However, the total number of hours worked in telehealth significantly increased (z = 5.05, p<.001) as did the percent of time spent interacting with patients via telehealth [t(72)=3.74, p<.001, d = 0.44]. Participants overwhelmingly preferred video (84%) over telephone; this differs from our previous survey where video was the preferred modality for 59% (p<.001). We utilized open-ended questions to elicit reasons for modality preference. The most-cited barrier to telehealth utilization was billing/reimbursement issues, with 39% noting this obstacle. This is consistent with our previous study where 30% cited billing/reimbursement as the primary barrier. These findings indicate a need for continued efforts to improve billing and reimbursement for genetic counseling offered via telehealth. They also present an opportunity for additional exploration regarding patient preferences for telehealth modality., (© 2021 National Society of Genetic Counselors.)

Research on genetic counseling outcomes has examined a range of metrics many that differ in quality and extent of psychometric assessment and in some cases fail to encompass potential benefits of genetic counseling for patients. Although a variety of possible outcomes have been explored, selecting the most important or relevant outcomes and identifying well-validated measures remain challenging. An online, modified Delphi method was used to prioritize genetic counseling outcomes from the viewpoint of individuals from four stakeholder groups - clinical genetic counselors, outcome researchers, genetic counseling training directors, and genetic counseling consumers/advocates. A survey of 181 genetic counseling outcomes were rated based on perceived importance and then sorted and categorized using the Framework for Outcomes of Clinical Communication Services in Genetic Counseling (FOCUS-GC) framework. Three of the FOCUS-GC domains (Process, Patient Care Experience, and Patient Changes) were assessed as most important, while none of the most highly rated outcomes fell into the domains of Patient Health or Family Changes. The majority of outcomes deemed most important by stakeholder groups were within the process domain. When looking at the proportion of outcomes that overlapped with the consumer group, clinical genetic counselors had the highest degree of similarity with consumers when looking at the high relative importance band outcomes (61.1% overlap), followed by training directors (58.3%), and outcome researchers (41.7%). Variability in importance according to stakeholder groups was an important consideration and prioritizing outcomes was challenging given that the majority of outcomes were rated as important. Working to bridge the realities of clinical care and fundamental differences in the viewpoints and priorities of genetic counseling research directions is an area for future exploration., (© 2020 National Society of Genetic Counselors.)

Content analyses of published papers in journals inform readers, editors, and members of the profession about historical publication patterns and how the journal has represented the field. This study is a content analysis of original research papers published in the Journal of Genetic Counseling from January 2011 through December 2017. This is the first study of its kind for the flagship journal of the National Society of Genetic Counseling. Of 794 papers published in the 7-year period, 428 were original research included in the analysis. Content analysis yielded categories reflecting the types of data analyses, genetic counseling practice specialties, characteristics of the study sample, and major topics/issues investigated in each study. There was an overall positive linear trend in the number of articles published during this period (p = .002). Approximately equal percentages of studies used qualitative (34%), quantitative (31%), and mixed (35%) analyses, and these proportions did not vary significantly across volumes (p = .73). Cancer (27%), prenatal (13.3%), and general genetics (12.6%) were the most prevalent specialties represented. The number of studies about prenatal and pediatrics was less, and the number of studies about neurogenetics was greater than would be expected based on the clinical workforce (p<.001). Patients were the most common sample (55.6%). While there was a significant increase in the number of articles with diverse samples (p = .001), the proportion of such articles did not increase over time (p = .86). The most common content areas were genetic counseling practice (16.8%); attitudes, perceptions, and beliefs about genetics services (16.1%); and decision-making (14.5%). In contrast, relatively few studies focused on laboratory genetic counselor, male, gender non-conforming, and adoptee populations. The trends and gaps highlighted in this content analysis can inform future research endeavors., (© 2020 National Society of Genetic Counselors.)

Standardized patients (SPs) are laypersons trained to portray patients, family members, and others in a consistent, measurable manner to teach and assess healthcare students, and to provide practice for emotionally and medically challenging cases. SP methodology has been studied with practicing genetic counselors; however, there is minimal empirical evidence characterizing its use in genetic counseling (GC) education. The Accreditation Council for Genetic Counseling (ACGC) Standards of Accreditation for Graduate Programs in Genetic Counseling include SP sessions as one way to achieve up to 20% of the 50 participatory cases required for graduation. The purpose of the current project was to determine the scope, frequency, and timing of SP methodology in ACGC-accredited programs to establish baseline usage, which happened prior to the SARS-CoV-2 pandemic. A 40-item investigator-created survey was developed to document the scope and frequency of SP use among programs. The survey was distributed through the Association of Genetic Counseling Program Directors' (AGCPD) listserv to 43 accredited and 6 programs under development. Surveys were analyzed from 25 accredited programs (response rate = 58%). Seventeen of these programs report inclusion of SP methodology in the curricula (68%), of which 13 report working with an established SP program. SPs are used predominantly for role-plays (70.6%), individualized instruction and remediation (29.4%), and for other reasons such as lecture demonstration, final examinations, practicing skills, and assessing students' goals. Sixteen of the participating programs use SPs to give GC students experience disclosing positive test results. Other details vary among the GC programs including the use of trained SPs, volunteer or paid SPs, actors with and without SP training, or GC students acting as patients. This study demonstrates that GC program SP experiences differ, but are largely viewed as valuable by the programs. Many GC programs report using SP encounters to create multiple opportunities for students to practice and refine clinical skills similar to SPs in medical school., (© 2020 National Society of Genetic Counselors.)

Monitoring and blunting are coping styles that characterize how people respond when faced with personally threatening situations. High monitors tend to pay more attention to, scan for, and amplify threatening cues; high blunters tend to avoid information and seek distractions when faced with a threatening event. This study sought to investigate possible differential effects of monitoring and blunting coping styles on information preferences in a hypothetical cancer diagnosis scenario in the adult general public of Minnesota. In a survey administered at a large public venue (2016 Minnesota State Fair), participants were asked to imagine they carried a gene mutation and were diagnosed with colon cancer. They indicated their information preference [modified Cassileth Information Styles Questionnaire (MCISQ)], completed two coping style measures [Miller Behavioral Style Scale (MBSS) and Threatening Medical Situations Inventory (TMSI)], rated their perceived severity of colon cancer (low, moderate, high), and answered demographic questions. Eight hundred fifty-five individuals provided usable data. Participants classified as monitors on the TMSI had significantly higher MCISQ scores (i.e., preferred more information) than those classified as blunters (p = .004). Those scoring high on monitoring and low on blunting on the MBSS preferred significantly more information than those scoring high on both monitoring and blunting (p = .04). Linear regression analysis revealed being a monitor (TMSI), scoring high on monitoring (MBSS), rating colon cancer as more severe, and having a higher education level were significant positive predictors of MCISQ scores. Results suggest individual differences in coping style, perceived severity, and education level affect desire for information. Genetic counselors should consider these patient characteristics (e.g., asking patients about their information preferences) and tailor their approaches accordingly., (© 2020 National Society of Genetic Counselors.)

Genetic counseling student characteristics may be evolving with the expansion and diversification of the genetic counseling field. We compared characteristics and previously accrued experiences of genetic counseling students enrolled in the 2018-2019 academic year with genetic counseling students surveyed by Lega et al. (Journal of Genetic Counseling, 14, 395; 2005). Four-hundred thirty students completed a survey (60% response rate) assessing demographics, select application experiences, encouragement and discouragement to apply to genetic counseling programs, and career certainty and motivations. Data analyses comprised descriptive statistics, content analysis of open-ended responses, and t tests and chi-square tests to compare responses to variables also assessed by Lega et al. Similarities between the two cohorts included most students being female, White/Caucasian, and biology majors; they reported a similar amount and type of support and discouragement; and they had strong career certainty. Salient group differences included the current cohort having a larger proportion of males (8% versus 3%; p=.007), greater percentage of parent(s) with a high socioeconomic status (SES; 31% versus 17%; p=.005), a lower first application cycle acceptance rate (71% versus 80%; p<.001), and they were more strongly influenced to pursue genetic counseling by future income (p<.001), desire to help others (p=.002), the profession's prestige (p<.001), and programs' 2-year duration (p<.001). Students applied to an average of six programs during their first application cycle and paid, on average, $1,648 for all application and interview expenses in their acceptance year. A vast majority (99%) had advocacy experiences (most commonly crisis intervention) and shadowing opportunities (94%), and 26% worked as genetic counseling assistants prior to their acceptance. Most students were interested primarily in cancer genetics at the time of survey completion. The genetic counseling field should continue efforts to improve racial and gender diversity and identify ways to increase program accessibility/affordability for individuals at all SES levels., (© 2020 National Society of Genetic Counselors.)

To help advance research critical to the achievement of the National Society of Genetic Counselors' (NSGC) strategic objectives, coordination and prioritization of society resources are needed. NSGC convened a task force to advance research necessary for the achievement of our strategic objectives by reviewing existing society-supported research efforts identifying gaps in current research, and coordinating society resources, the task force was formed in order to coordinate and prioritize society resources to advance research critical to the achievement of our strategic objectives. The task force developed a research agenda outlining high-priority research questions for the next 5 years. The questions are organized into four domains: (a) Genetic Counseling Clients; (b) Genetic Counseling Process and Outcomes; (c) Value of Genetic Counseling Services; and (d) Access to Genetic Counseling Services. This framework can be used to advocate for research and funding priorities within NSGC and with other key research entities to stimulate the growth and advancement of the genetic counseling profession., (© 2020 National Society of Genetic Counselors.)

Aim: Precision medicine research recruitment poses challenges. To better understand factors impacting recruitment, this study assessed hypothetical willingness, public opinions of and familiarity with precision medicine research. Materials & methods: Adult attendees (n = 942) at the 2017 Minnesota State Fair completed an electronic survey. Results: Few respondents had heard of 'precision medicine' (18%), and familiarity came mostly from media (43%). Fifty-six percent expressed hypothetical willingness to participate in precision medicine research. Significant predictors of willingness were: comfort with unconditional research; perceiving precision medicine research as beneficial, trustworthy and confidential; having a graduate degree; comfort with self- but not family-participation; and familiarity with precision/personalized medicine. Conclusion: This study identified predictors of hypothetical willingness to participate in precision medicine research. Alternative recruitment strategies are needed.

Quantum communication networks have the potential to revolutionize information and communication technologies. Here we are interested in a fundamental property and formidable challenge for any communication network, that of guaranteeing the anonymity of a sender and a receiver when a message is transmitted through the network, even in the presence of malicious parties. We provide the first practical protocol for anonymous communication in realistic quantum networks.

In 2009, the National Society of Genetic Counselors Service (NSGC) Delivery Model Task Force defined genetic counseling service delivery models including telephone (genetic counseling provided remotely by telephone) and telegenetics (counseling provided remotely using videoconferencing). Little is known about the experience of genetic counselors practicing telemedicine in the USA. We sought to evaluate perceived satisfaction, advantages, disadvantages, and barriers to the practice and implementation of telegenetics by practicing genetic counselors. A 21-question online survey was distributed via the NSGC's member directory. Descriptive statistics and a thematic analysis were used to analyze data. A total of 344 surveys were completed of which 235 (68.3%) respondents had delivered genetic counseling via telemedicine and 109 (36.6%) had not. Overall genetic counseling providers who had provided telegenetics were satisfied or very satisfied with their position (91%) and those who were not performing telegenetics were at least slightly interested in a telehealth position (92%).The most common appealing reasons for working in or wanting to work in telemedicine included an innovative approach to healthcare delivery, aspects of remote positions such as the ability to work from home, and flexibility of hours. Unappealing characteristics of telemedicine included the inability to see nonverbals, limited psychosocial counseling, and limited social interaction with colleague that is associated with remote positions. Barriers to implementation of telegenetics were noted by 53% of respondents with the largest barrier being billing and reimbursement. The results of this work suggest that telegenetics service organizations could consider increasing social interactions, attempting to use the preferred method of care (video) to increase ability to see nonverbals, offering flexible work hours, and allowing time to address psychosocial issues as they arise in consultations.

Few studies have explored the public's views of genetic counseling services, and even fewer focus on founder populations with high prevalence of genetic disease, such as Hutterites. The Hutterites are an Anabaptist religious group grounded in a strong Christian faith. The primary aim of this study was to assess Hutterites' views of genetic counseling services. A secondary aim was to compare their views to those obtained in a study of rural Midwestern U.S. residents (Riesgraf et al., Journal of Genetic Counseling, 24(4), 565-579, 2015). One-hundred eleven individuals from southern Manitoba Hutterite colonies completed an anonymous survey assessing familiarity with and attitudes about genetic counseling; perceptions of its purpose, scope and practice; and willingness to use genetic counseling services. Although many respondents were not familiar with genetic counseling, most had accurate perceptions and positive attitudes. For instance, mean ratings showed endorsement of trust in information provided by genetic counselors and agreement that genetic counseling aligns with their values. Logistic regression indicated reported willingness to use genetic counseling services increased if respondents: had a higher self-rated familiarity with genetic counseling; were younger; agreed with the statement: I would trust the information provided by a genetic counselor; and disagreed with the statements: Genetic counseling is only useful for a small group of people with rare diseases, and Genetic counselors help expectant parents choose the eye color of their child. Thematic analysis of comments regarding willingness to use genetic counseling services yielded themes of personal/family risk, pragmatism (genetic counseling is sensible and practical for managing health concerns), and desire to prevent genetic conditions in the Hutterite population. Comparison of the present findings to those of Riesgraf et al. suggests predictors of Hutterites' willingness to use genetic counseling are unique and culturally-based. Limited replication of Riesgraf et al. was achieved. Additional findings, practice implications and research recommendations are presented.

Countertransference (CT) refers to conscious and unconscious emotions, fantasies, behaviors, perceptions, and psychological defenses genetic counselors experience in response to any aspect of genetic counseling situations (Weil 2010). Some authors theorize about the importance of recognizing and managing CT, but no studies solely aim to explore genetic counselors' experiences of the phenomenon. This study examined the extent to which clinical genetic counselors' perceive themselves as inclined to experience CT, gathered examples of CT encountered in clinical situations, and assessed their CT management strategies. An anonymous online survey, sent to NSGC members, yielded 127 usable responses. Participants completed Likert-type items rating their CT propensities; 57 of these individuals also provided examples of CT they experienced in their practice. Factor analysis of CT propensities tentatively suggested four factors: Control, Conflict Avoidance, Directiveness, and Self-Regulation, accounting for 38.5% of response variance. Thematic analysis of CT examples yielded five common triggers: general similarity to patient, medical/genetic similarity, angry patients, patient behaves differently from counselor expectations, and disclosing bad news; six common manifestations: being self-focused, projecting feelings onto the patient, intense emotional reaction to patient, being overly invested, disengagement, and physical reaction; five CT effects: disruption in rapport building, repaired empathy, over-identification, conversation does not reach fullest potential, and counselor is drained emotionally; and three management strategies: recognizing CT as it occurs, self-reflection, and consultation. Results suggest CT is a common experience, occurring in both "routine" and emotionally complex cases. Training programs, continuing education, and peer supervision might include discussion of CT, informed by examples from the present study, to increase genetic counselor awareness and skills for managing the phenomenon.

Supervised clinical experiences with patients comprise a critical component of genetic counseling student education. Previous research has found genetic counseling students tend to be more anxiety prone than the general population, and anxiety related to supervision has been found in genetic counseling and related fields. The present study investigated how anxiety affects the experience of supervision for genetic counseling students. Second year genetic counseling students were invited to participate through email invitations distributed via training directors of the 33 programs accredited at the time of the study by the American Board of Genetic Counseling. An initial online survey contained the trait scale of the State-Trait Anxiety Inventory to estimate anxiety proneness in this population and an invitation to participate in a 45-minute semi-structured phone interview focusing on students' experiences of supervision during their clinical rotations. High and low trait anxiety groups were created using STAI scores, and the groups' interview responses were compared using consensual qualitative research methodology (CQR; Hill 2012). The high anxiety group was more likely to describe problematic supervisory relationships, appreciate the supervisor's ability to help them when they get stuck in sessions, and feel their anxiety had a negative effect on their performance in general and in supervision. Common themes included supervisors' balancing support and guidance, the importance of feedback, ego-centric responses, and supervisors as focal points. The results of the present study are largely consistent with current literature. Further research findings and research, practice, and training recommendations are provided.

Supervision is a primary instructional vehicle for genetic counseling student clinical training. Approximately two-thirds of genetic counselors report teaching and education roles, which include supervisory roles. Recently, Eubanks Higgins and colleagues published the first comprehensive list of empirically-derived genetic counseling supervisor competencies. Studies have yet to evaluate whether supervisors possess these competencies and whether their competencies differ as a function of experience. This study investigated three research questions: (1) What are genetic counselor supervisors' perceptions of their capabilities (self-efficacy) for a select group of supervisor competencies?, (2) Are there differences in self-efficacy as a function of their supervision experience or their genetic counseling experience, and 3) What training methods do they use and prefer to develop supervision skills? One-hundred thirty-one genetic counselor supervisors completed an anonymous online survey assessing demographics, self-efficacy (self-perceived capability) for 12 goal setting and 16 feedback competencies (Scale: 0-100), competencies that are personally challenging, and supervision training experiences and preferences (open-ended). A MANOVA revealed significant positive effects of supervision experience but not genetic counseling experience on participants' self-efficacy. Although mean self-efficacy ratings were high (>83.7), participant comments revealed several challenging competencies (e.g., incorporating student's report of feedback from previous supervisors into goal setting, and providing feedback about student behavior rather than personal traits). Commonly preferred supervision training methods included consultation with colleagues, peer discussion, and workshops/seminars.

Relatively few investigations of the public's perceptions and attitudes about genetic counseling exist, and most are limited to individuals at-risk for a specific disease. In this study 203 individuals from a Midwest rural area completed an anonymous survey assessing their familiarity with genetic counseling; perceptions of genetic counseling purpose, scope, and practice; attitudes toward genetic counseling/counselors; and willingness to use genetic counseling services. Although very few respondents were familiar with genetic counseling, most reported accurate perceptions and positive attitudes; mean ratings, however, showed less endorsement of trust in information provided by genetic counselors and less agreement that genetic counseling aligns with their values. Logistic regression indicated reported willingness to use genetic counseling services increased if respondents: had completed some college; rated their familiarity with genetic counseling as high; agreed with the statements: genetic counseling may be useful to someone with cancer in their family, genetic counseling is in line with my values, and genetic counselors advise women to get abortions when there is a problem; and disagreed with the statements: genetic counseling is only useful to a small group of people with rare diseases, and genetic counselors must receive a lot of special training. Additional findings, practice implications, and research recommendations are presented.

Although some researchers have attempted to define genetic counseling practice goals, no study has obtained consensus about the goals from a large sample of genetic counselors. The Reciprocal-Engagement Model (REM; McCarthy Veach, Bartels & LeRoy, 2007) articulates 17 goals of genetic counseling practice. The present study investigated whether these goals could be generalized as a model of practice, as determined by a larger group of clinical genetic counselors. Accordingly, 194 genetic counselors were surveyed regarding their opinions about the importance of each goal and their perceptions of how frequently they achieve each goal. Mean importance ratings suggest they viewed every goal as important. Factor analysis of the 17 goals yielded four factors: Understanding and Appreciation, Support and Guidance, Facilitative Decision-Making, and Patient-Centered Education. Patient-Centered Education and Facilitative Decision-Making goals received the highest mean importance ratings. Mean frequency ratings were consistently lower than importance ratings, suggesting genetic counseling goals may be difficult to achieve and/or not applicable in all situations. A number of respondents provided comments about the REM goals that offer insight into factors related to implementing the goals in clinical practice. This study presents preliminary evidence concerning the validity of the goals component of the REM.

Compassion fatigue is a state of detachment and isolation experienced when healthcare providers repeatedly engage with patients in distress. Compassion fatigue can hinder empathy and cause extreme tension. Prior research suggests 73.8 % of genetic counselors are at moderate to high risk for compassion fatigue and approximately 1 in 4 have considered leaving the field as a result Injeyan et al. (Journal of Genetic Counseling, 20, 526-540, 2011). Empirical data to establish a reliable profile of genetic counselors at risk for compassion fatigue are limited. Thus the purpose of this study was to establish a profile by assessing relationships between state and trait anxiety, burnout, compassion satisfaction, selected demographics and compassion fatigue risk in practicing genetic counselors. Practicing genetic counselors (n = 402) completed an anonymous, online survey containing demographic questions, the State-Trait Anxiety Inventory, and the Professional Quality of Life scale. Multiple regression analysis yielded four significant predictors which increase compassion fatigue risk (accounting for 48 % of the variance): higher levels of trait anxiety, burnout, and compassion satisfaction, and ethnicity other than Caucasian. Additional findings, study limitations, practice implications, and research recommendations are provided.

Genetic counselor self-disclosure is a complex behavior that lacks extensive characterization. In particular, data are limited about genetic counselors' responses when patients ask them to self-disclose. Accordingly, this study investigated genetic counseling students' (n = 114) and practicing genetic counselors' (n = 123) responses to two hypothetical scenarios in which a female prenatal patient requests self-disclosure. Scenarios were identical except for a final patient question: "Have you ever had an amniocentesis?" or "What would you do if you were me?" Imagining themselves as the counselor, participants wrote a response for each scenario and then explained their response. Differences in disclosure frequency for students vs. counselors and disclosure question were assessed, and themes in participant responses and explanations were extracted via content and thematic analysis methods. Chi-square analyses indicated no significant differences in frequency of student versus counselor disclosure. Self-disclosure was significantly higher for, "Have you ever had an amniocentesis?" (78.5 %) than for, "What would you do if you were me?" (53.2 %) (p < .001). Types of self-disclosures included personal, professional, and mixed disclosures. Prevalent explanations for disclosure and non-disclosure responses included: remain patient focused and support/empower the patient. Additional findings, practice and training implications, and research recommendations are presented.

Objective: Studies showing the efficacy and accuracy of chromosomal microarray analysis (CMA) in prenatal diagnosis may position it as a first-tier prenatal test. This study seeks to characterize the practices and attitudes of North American prenatal genetic counselors regarding CMA., Method: Genetic counselors (N = 196) in Canada and the USA responded to an anonymous online survey. Completed surveys were analyzed (n = 160)., Results: Most respondents viewed CMA as useful (73%), presented CMA to patients (84%), and had ordered CMA at least once (69%). The use of full versus targeted arrays varied. Logistic regression analyses identified three significant predictors for the view that prenatal CMA is useful: more prenatal counseling experience, younger age, and previously presenting CMA to a patient. Three factors predicted the likelihood of offering CMA to prenatal patients: percentage of time spent in prenatal practice, belief that CMA is useful, and practicing in the USA (versus Canada). Reasons cited for not using CMA included financial concerns, the possibility of ambiguous results, and ethical concerns. Most respondents (n = 111) believed that ambiguous results are an ethical issue., Conclusion: Clinical guidelines for prenatal CMA, further research on specific copy number variants, and broader availability of targeted arrays to reduce ambiguous results are needed., (© 2013 John Wiley & Sons, Ltd.)

Stress is an inevitable part of daily life. Studies of graduate student stress exist, but none include genetic counseling students. The present mixed-methods study investigated 225 genetic counseling students' stress and anxiety levels using the State-Trait Anxiety Inventory (STAI; Spielberger et al. 1983), frequency and intensity of stressors associated with their graduate experience, positive and challenging aspects of their experience, and their stress management advice for prospective students. Principal axis factor analysis yielded five conceptual factors underlying the stressors: Professional Uncertainty, Personal Life Events, Interpersonal Demands, Academic Demands, and Isolating Circumstances. Exploratory model fitting using regression yielded four significant predictors accounting for 19% of the variance in state anxiety: (1) trait anxiety, (2) the Interpersonal Demands factor, (3) the Isolating Circumstances factor, and (4) the interaction between the Professional Uncertainty factor and advanced student status. Content analysis of open-ended responses identified several themes. For instance, most students enjoyed what they were learning, interactions with colleagues, and affirmation of their career choice, while certain academic and professional challenges were particularly stressful (e.g., workload, time constraints, clinical rotations). Additional findings, program implications, and research recommendations are provided.

Two prior studies suggest genetic counselors self-disclose primarily because patients ask them to do so (Peters et al., 2004; Thomas et al., 2006). However, scant research has investigated effects of counselor disclosure on genetic counseling processes and outcomes. In this study, 151 students (98 undergraduates, 53 graduates) completed one of three surveys describing a hypothetical genetic counseling session in which a patient at risk for FAP was considering whether to pursue testing or surveillance procedures. Dialogue was identical in all surveys, except for a final response to the question: "What would you do if you were me?" The counselor either revealed what she would do (Personal Disclosure), what other patients have done (Professional Disclosure), or deflected the question (No Disclosure). Imagining themselves as the patient, participants wrote a response to the counselor and indicated their perceptions of her. Participants rated the non-disclosing counselor significantly lower in social attractiveness than either disclosing counselor, and less satisfying than the professional disclosing counselor. Analysis of written responses yielded four themes: Made Decision, Sought Information, Expressed Thoughts/Feelings, and No Decision. Practice implications and research recommendations are provided.

Professional development is an important goal for professionals in human service fields such as counseling, teaching, and nursing. However, there are relatively few published papers on this topic specific to genetic counselors, and no studies systematically examine the outcomes of their professional development. This study was designed to investigate genetic counselors' perceptions of their post-degree learning and to compare themes in their learning to those of psychotherapist professional development models. Two hundred ninety-three genetic counselors completed the demographics portion of an anonymous online survey, and of these, 185 also responded to at least one of two open-ended items: What is the most important thing you have learned about yourself in your practice as a genetic counselor? and What advice would you give to genetic counseling students just starting their career? An interpretative content-analysis method was used to extract three major themes: Intrapersonal lessons, Interpersonal lessons, and Professional lessons. Training and practice implications and research recommendations are provided.

Inferior petrosal sinus sampling (IPSS) of ACTH with CRH stimulation helps distinguish pituitary ACTH-dependent Cushing's syndrome from the ectopic ACTH syndrome (EAS). The usefulness of the paradoxical response of other pituitary hormones including prolactin to CRH remains controversial. Data from 33 IPSS procedures carried out at the Walton Centre for Neurology and Neurosurgery in Liverpool were analyzed. Patients were selected for this procedure if they had been diagnosed with ACTH dependent Cushing's syndrome and the majority had no obvious pituitary adenoma on Magnetic Resonance Imaging. Satisfactory simultaneous bilateral catheterization was accomplished in 23/33 (success rate 70%). The diagnostic sensitivity of a basal central/peripheral ACTH ratio >2.0 and >3 post-CRH was 94%. In two patients with subsequently confirmed EAS the maximal central/peripheral ACTH ratio was <2.0 on basal samples and did not change following CRH. The maximal central/peripheral prolactin ratio was noted at 5 min post-CRH, coinciding with the maximal central/peripheral ACTH ratio. The intersinus gradient (ISG) of ACTH was paralleled by a consistent ISG of prolactin and in 7 out of 9 patients (with successful bilateral IPSS and unilateral adenomas) the ISG of prolactin correctly lateralized the microadenoma whereas the ISG of ACTH correctly lateralized in 8 out of 9 patients. Neither of the patients with EAS achieved a central/peripheral prolactin ratio >2 in the basal state and >3 post-CRH. Bilateral catheterization of inferior petrosal sinuses can be successful in up to 70% of cases. Prolactin measurements do not have superior lateralizing capability compared with ACTH but may be useful in the differential diagnosis of pituitary-driven from EAS.

Thyrotropin (TSH)-secreting pituitary adenomas (TSHomas) are rare tumours. It has been suggested that thyroid surgery or radioiodine treatment should not be considered in patients with such tumours as these treatments may facilitate rapid tumour expansion. We studied the effects of thyroid ablative treatment on tumour size and thyroid status in two patients with TSHomas. Patients studied were: (1) a female with a TSHoma who declined to undergo pituitary surgery and underwent a total thyroidectomy instead and (2) a male patient who opted for radioiodine treatment for his recurrent TSHoma. Changes in tumour size on serial magnetic resonance imaging scans, and restoration of euthyroidism were studied. No marked changes in tumour size or features of aggressiveness occurred in these patients over periods of 8 and 12 years. Euthyroidism was restored and maintained in both patients. Ablative thyroid treatment can be a safe and successful option to treat TSHomas.

Context: Obesity is a common sequel to hypothalamic tumors and their treatment, but the underlying mechanisms are not fully established., Objective: Our objective was to evaluate the role of ghrelin and peptide-YY (PYY) in human hypothalamic obesity., Setting: The study took place at a University Medical Center., Participants: Subjects included 14 adult patients (six male, eight female) with tumors of the hypothalamic region and 15 healthy controls (six male and nine female) matched for age, body mass index, and percentage of body fat., Interventions: Plasma ghrelin and total PYY were measured using RIAs after an overnight fast and 15, 30, 60, 120, and 180 min after a mixed meal., Main Outcome Measures: We assessed ghrelin, PYY, and appetite ratings., Results: The fall in ghrelin levels after the test meal was similar in the two groups. There was no statistically significant change postprandially in circulating PYY in the patients with hypothalamic damage. Fasting leptin levels and postprandial insulin responses were also similar in the two groups. Patients with hypothalamic damage reported higher hunger ratings at 3 h after the meal (P = 0.01) and a stronger desire to eat at 2 h (P = 0.01) and 3 h (P = 0.02) compared with the control group., Conclusions: Adult patients with structural hypothalamic damage show impaired satiety, but the changes observed in circulating ghrelin and PYY concentrations in response to a test meal do not indicate a central role for these gut hormones in the control of appetite and the pathogenesis of obesity in these patients.