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Summary Background Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation. Objective The purpose of this study was to examine TART screening and fertility counseling practices among boys with CAH. Study design An IRB-approved retrospective chart review was conducted of all males with ICD-9/10 codes for CAH (2007–2016) at a large pediatric academic center to examine: age and indication for diagnosis; age at first and last documented pediatric endocrinology and urology visit; history of ultrasound examinations; and documentation of fertility counseling. Results Forty-six patients were included, of whom 38 had 21-hydroxylase deficiency. Median age at diagnosis was 2 weeks (range 7 days–10 years). Median age at the most recent pediatric endocrinology clinic visit was 14 years (range 2–42 years). Twenty-nine patients were >11 years old (63% of the sample) at the time of the study and 14 of these were >18 years old (30% of the sample). Seven patients (15%) had a screening ultrasound at some point in their care, of whom three had TARTs. Fertility was mentioned in the records of six subjects (13% of the sample). Six of the subjects (13%) had any mention of fertility in their records. None of the patients had biochemical testing or semen analysis to assess gonadal function, and none were offered fertility preservation. Only one patient was seen by a pediatric urologist. Discussion Despite the limitations of a single-center retrospective design, our findings highlight that TART screening and fertility counseling remain underutilized in boys with CAH. There is a need for increased awareness and development of practice guidelines within pediatric urology and endocrinology to address this common and understudied problem. Conclusion In addition to a screening ultrasound in puberty and consideration of semen analysis after puberty, these boys may benefit from seeing a pediatric urologist independently or in an interdisciplinary program. Boys with CAH and their families should be educated about infertility risk and potential interventions, with the goal of improving reproductive outcomes in this population.

Summary Short introduction/Background Children affected by differences/disorders of sex development (DSDs) and their families are vulnerable to significant risks across developmental stages that threaten quality of life and psychosocial functioning. Accordingly, both experts in DSD treatment and patient advocacy groups have endorsed the incorporation of psychosocial care into interdisciplinary management of DSD conditions. Objective This study assessed psychosocial needs and received services reported by parents of children with DSD treated at two large US academic medical centers. Specifically, differences in parents' perceptions of psychosocial service needs were compared between those who received or did not receive interdisciplinary care that included psychology/social work professionals. Study design In a cross-sectional study, sixty-four parents of children with DSD aged 0–19 years attending two major academic centers with interdisciplinary teams completed a questionnaire about their receipt and perception of 12 individual psychosocial services throughout their child's DSD treatment. Results Receipt of individual psychosocial services ranged from 27 to 81%. Most commonly, parents reported having a psychosocial provider explain medical terms and answer questions after talking with a doctor (81%), assist with words and terms to describe the condition and treatment (69%), and help navigate the hospital system (63%). Families positively endorsed psychosocial services, with 91–100% of services received rated as helpful. Parents of children who received care as part of an interdisciplinary team were significantly more likely to receive psychosocial services than those treated by single providers (e.g., urologists). Specific gaps in psychosocial care were noted in regard to access to mental health providers familiar with DSD, fertility counseling, and support with community advocacy (e.g., arranging for accommodations at the school or advocating on patient's behalf with the insurance company). Among families who had not received them, services most desired were assistance with words and terms to describe condition or treatment; explanation of medical terms and answering questions after meeting with a doctor; connection to resources such as books, pamphlets, websites, and support groups; and a central care coordinator for the medical team. Discussion and Conclusion Families value psychosocial services but are far less likely to receive services if they are not seen in an interdisciplinary clinic visit that includes a psychosocial provider. Families desire but often lack mental health, advocacy, and fertility-related support. This study highlights the need for sustained psychosocial follow-up across development, even in the absence of pressing medical concerns, to provide support and anticipatory guidance as needs and issues evolve. Extended Summary Table . Psychosocial services received by DSD interdisciplinary clinic visit (yes/no). Psychosocial service received Interdisciplinary DSD clinic visit p-value Yes No n % n % Emotional support for the family at diagnosis 24 63.2 4 15.4 0.0002 Strategies for talking with others about diagnosis 22 57.9 6 23.1 0.006 Ways to help the family talk with the child about diagnosis 26 68.4 6 23.1 0.0004 Central contact person or care coordinator 21 55.3 7 26.9 0.03 Emotional support as the child aged 26 68.4 4 16.0 Patient and family advocacy to the community (e.g., school, insurance company) 15 39.5 2 7.7 0.005 Connection to resources (e.g., books, support groups) 26 68.4 7 26.9 0.001 Mental health services with a provider who is knowledgeable about the condition 22 57.9 2 7.7 Individual to talk with the child about fertility 15 39.5 2 7.7 0.005 DSD, difference or disorder of sex development.

Summary Introduction Patients with gonadal dysgenesis (GD) with a Y chromosome have an increased risk of gonadal neoplasm. Few data exist on the ability of imaging to detect malignancy in intra-abdominal gonads in these patients. Objective We aimed to determine the correlation between preoperative imaging findings and gonadal pathology in GD patients with Y chromosome material. Methods A retrospective review was performed of patients with XY or XO/XY GD who underwent gonadectomy at our institution from 2003 to 2017. Patients were assessed preoperatively with ultrasonography; some additionally underwent MRI. Results The series consisted of 10 patients, all with female gender and non-palpable gonads. Median age was 13.1 years (range 2.4–18.3 years). Overall, four of the ten patients (40%) had a tumor (gonadoblastoma or dysgerminoma) on final pathology. Four patients had a gonad or gonads that were definitively seen on ultrasonography. All visualized gonads were described as “normal” or “small” with the exception of one patient, who had a normal MRI. Three of the four patients in this group had a tumor on final pathology. The remaining six patients had a gonad or gonads that were not definitively visualized on ultrasound; one patient in this group had a tumor on final pathology. Overall, five of seven gonads (71%) definitively visualized on ultrasound had tumor on final pathology, and two of thirteen gonads (15%) not visualized on ultrasound had tumor on final pathology; this difference was statistically significant (p = 0.012). Three patients were imaged with MRI. Of the gonads that could be visualized on MRI, no definitive abnormalities were seen. All patients imaged with MRI had tumors on final pathology. Discussion Both ultrasound and MRI are relatively poor at identifying and characterizing intra-abdominal gonads in GD patients. The majority of patients who had a neoplasm had normal imaging findings. Gonads that were definitively visualized on ultrasound were more likely to contain neoplasms that could not be visualized, which perhaps because of tumor growth. No other consistent imaging findings of malignancy were found. Our study included ultrasound evaluations that were completed over 10 years ago and not performed by pediatric ultrasonographers, which may have biased the results. However, results suggest that when discussing gonadectomy with GD patients, one should not be reassured by “normal” imaging findings. Neither ultrasound nor MRI should be relied on for surveillance in GD patients who decide against gonadectomy. Conclusion A normal ultrasound or MRI does not rule out neoplasm in GD patients with intra-abdominal gonads.