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Purpose The aim of this study was to explore the time-course of hospitalization due to hyponatremia associated with omeprazole and esomeprazole. Methods In this register-based case–control study, we compared patients hospitalized with a main diagnosis of hyponatremia (n = 11,213) to matched controls (n = 44,801). We used multiple regression to investigate time-related associations between omeprazole and esomeprazole and hospitalization because of hyponatremia. Results The overall adjusted OR (aOR) between proton pump inhibitor (PPI) exposure, regardless of treatment duration and hospitalization with a main diagnosis of hyponatremia, was 1.23 (95% confidence interval CI 1.15–1.32). Exposure to PPIs was associated with a prompt increase in risk of hospitalization for hyponatremia from the first week (aOR 6.87; 95% CI 4.83–9.86). The risk then gradually declined, reaching an aOR of 1.64 (0.96–2.75) the fifth week. The aOR of ongoing PPI treatment was 1.10 (1.03–1.18). Conclusion The present study shows a marked association between omeprazole and esomeprazole and hyponatremia related to recently initiated treatment. Consequently, newly initiated PPIs should be considered a potential culprit in any patient suffering from hyponatremia. However, if the patient has had this treatment for a longer time, the PPI should be considered a less likely cause.

Purpose Review the literature concerning adrenal insufficiency (AI) and adrenal crisis (AC) in adolescents and young adults. Methods Searches of PubMed identifying relevant reports up to March 2022. Results AI is rare disorder that requires lifelong glucocorticoid replacement therapy and is associated with substantial morbidity and occasional mortality among adolescents and young adults. Aetiologies in this age group are more commonly congenital, with acquired causes, resulting from tumours in the hypothalamic-pituitary area and autoimmune adrenalitis among others, increasing with age. All patients with AI are at risk of AC, which have an estimated incidence of 6 to 8 ACs/100 patient years. Prevention of ACs includes use of educational interventions to achieve competency in dose escalation and parenteral glucocorticoid administration during times of physiological stress, such as an intercurrent infection. While the incidence of AI/AC in young children and adults has been documented, there are few studies focussed on the AC occurrence in adolescents and young adults with AI. This is despite the range of developmental, psychosocial, and structural changes that can interfere with chronic disease management during this important period of growth and development. Conclusion In this review, we examine the current state of knowledge of AC epidemiology in emerging adults; examine the causes of ACs in this age group; and suggest areas for further investigation that are aimed at reducing the incidence and health impact of ACs in these patients.

Purpose Bilateral adrenalectomy (BA) still plays an important role in the management of Cushing's disease (CD). Nelson’s syndrome (NS) is a severe complication of BA, but conflicting data on its prevalence and predicting factors have been reported. The aim of this study was to determine the prevalence of NS, and identify factors associated with its development. Data sources Systematic literature search in four databases. Study Selection Observational studies reporting the prevalence of NS after BA in adult patients with CD. Data extraction Data extraction and risk of bias assessment were performed by three independent investigators. Data synthesis Thirty-six studies, with a total of 1316 CD patients treated with BA, were included for the primary outcome. Pooled prevalence of NS was 26% (95% CI 22–31%), with moderate to high heterogeneity (I2 67%, P Conclusions Every fourth patient with CD treated with BA develops NS, and every fifth patient requires pituitary-specific treatment. The risk of NS may persist for up to four decades after BA. Life-long follow-up is essential for early detection and adequate treatment of NS.

The association between glucocorticoid replacement therapy for adrenal insufficiency (AI) and osteoporosis is unclear. Fracture is a major cause of morbidity in patients with osteoporosis. This study aims to determine if patients on glucocorticoid replacement therapy for AI have an increased rate of fractures compared to the general population. We included all studies with adult patients receiving glucocorticoid replacement therapy for either congenital adrenal hyperplasia (CAH), primary adrenal insufficiency (PAI), or secondary adrenal insufficiency (SAI). Studies without fracture data were excluded, as well as meeting abstracts. Studies with fractures but without a control group were eligible to be included in the systematic review but not in the meta-analysis. The primary outcome was the number of fractures, which was further differentiated into osteoporotic fractures. In addition, the glucocorticoid dose equivalents used were noted whenever possible. Seventeen studies were included in the systematic review. Seven were used in the meta-analysis of any fracture and six were used for osteoporotic fracture. The reported fracture rate ranged between no fracture to 60.8% in the patient group and no fracture to 43.8% in the control group. The odds ratio (OR) for any fracture was 2.71 (95%CI: 1.36–5.43, P = 0.005) and for osteoporotic fracture 2.76 (95%CI: 2.39–3.19 P

Patients with adrenal insufficiency (AI) are at risk of life-threatening illness. Medical jewellery is recommended for emergencies, but its uptake is unknown. This study assessed the use of medical jewellery among Australian AI patients aged 25 years and under. Data on the age, sex, region, and diagnosis of subscribers to the largest medical jewellery provider in Australia were analysed. Subscription rates were calculated using 2017 Australian population data. There were 666 patients aged 25 years and under in the database but only 358 (53.8%) had an active (up to date) subscription, corresponding to a subscription rate of 43.67/million or approximately 14.6% of the estimated patient population. The majority (n = 238, 66.5%) had primary AI; followed by secondary AI (n = 82, 22.9%); and the remaining patients (n = 38, 10.6%) could not be classified. Congenital adrenal hyperplasia (CAH) was the most frequent diagnosis (n = 153, 42.7%), corresponding to a subscription rate of 18.67/ million or 28.9% of the estimated number of patients with CAH. The mean age of subscribers was 15.9 (SD = 5.8) years. Only 18 (5%) patients were aged under 5 years. More females (n = 199, 55.9%) than males were active subscribers and subscription rates differed significantly by geographic area. Inactive (lapsed) subscriptions increased with age and were highest in the 20–25 year age group. Subscription rates were lower than recommended; increased with age; and were more common in females. Older age was associated with higher levels of lapsed subscriptions. Factors leading to low use and discontinuation in young adults should be addressed.

Parathyroid lipoadenomas (PLAs) are rare tumors, and case descriptions are limited, 50% fat on histologic examination with preoperative evidence of primary hyperparathyroidism (PHPT). A total of 8 bona fide PLA cases and 2 equivocal PLAs (close to 50% fat) were included. As approximately 4000 conventional parathyroid adenomas were diagnosed at our department during the same time interval, the prevalence of PLA was 0.20%. PLA patients were predominately female (63%) and presented with classical PHPT-related symptoms. Majority of cases were successfully located preoperatively and had an average tumor weight of 445 mg. Histologically, all PLAs consisted of > 50% mature adipose tissue, except a single case with brown fat. Of note, PLA patients exhibited a body mass index in line with PHPT patients in general, but a relatively high, near-significant prevalence of arterial hypertension was observed when compared to tumors with less fat (P = 0.0584). Future studies on this finding might be warranted. To summarize, we present one of the largest institutional PLA case series to date, and conclude that PLAs are rare, sporadic tumors mirroring many clinical aspects of conventional adenomas—with a potential coupling to hypertension worthy of follow-up studies. Electronic supplementary material The online version of this article (10.1007/s12022-020-09616-3) contains supplementary material, which is available to authorized users.

Purpose Several studies have reported an association between hyponatremia and lethality. However, it remains elusive whether hyponatremia independently contributes to lethality. The aim of the study was to investigate associations between hyponatremia and lethality and differences in lethality between men and women hospitalized due to hyponatremia. Methods Four registries were utilized in this population-based retrospective study: The National Patient Registry, the Cause of Death Register, the Swedish Prescribed Drug Register and the Total Population Register (NPR) from which the controls were sampled. All hospitalized patients with a first-ever principal ICD10 diagnosis of hyponatremia or syndrome of inappropriate ADH secretion in the NPR between 1 October 2005 and 31 December 2014 were defined as cases. Cox regression with adjustment for potential confounders was used. Results 14,359 individuals with a principal diagnosis of hyponatremia, and 57,382 matched controls were identified. Median age was 76 years and the majority were women (72%). Median age for women and men was 79 and 68 years, respectively. Adjusted hazard ratios (and 95% CI) for lethality in those with hyponatremia compared with controls were for the entire population 5.5 (4.4–7.0) and in the subgroup free from previously known underlying disease 6.7 (3.3–13.3). Lethality in women with hyponatremia was lower compared with men: HR: 0.56 (0.49–0.64). In the healthier group the lethality remained lower for women: HR: 0.49 (0.34–0.71). Conclusions Patients hospitalized due to hyponatremia faced an increased subsequent lethality that was independent of concomitant disease. This increase was nearly twice as large among men compared with women.

Background Poorly differentiated anal neuroendocrine carcinomas (ANECs) are rare lesions with poor prognosis, and the molecular etiology is only partially understood. Case presentation At our institution, we have treated and followed a patient with such a rare ANEC. He had primarily surgery followed by three rounds of repeated surgery for loco-regional recurrences. He also received three different combinations of chemotherapy and external beam radiation. At last follow-up 13 years since the primary diagnosis, the patient had been in complete remission for nine years. The patient’s medical files were re-examined, including laboratory, radiology and clinical examinations. Histopathology was re-assessed, and expanded immunohistochemistry was performed from tissue specimens from the four surgical procedures. In addition, the molecular genetic status was evaluated through next-generation sequencing. The initial tumor was consistent with a 59 mm small cell neuroendocrine cancer with a Ki-67 index of 80%. Regional lymph node metastases were evident, and immunohistochemistry supported a neuroendocrine origin. A PCR screening detected human papilloma virus type 45 DNA (high-risk subtype), and focused next-generation sequencing found a missense mutation in the Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha (PIK3CA) gene. In tissues representing subsequent recurrences, the Chromogranin A expression was lost, and the Ki-67 index increased to 90%. Conclusions For the first time, we report the detection of HPV45 in a case of ANEC. To our belief, PIK3CA mutations have also not been previously demonstrated in this tumor entity. In highly malignant ANECs, cure can in rare cases be achieved. Although speculative, expression of HPV45 and/or the PIK3CA mutation may have contributed to the favorable outcome.

Background Abscess in the thyroid gland is a rare but severe infectious disease. The condition can have anatomic or iatrogenic underlying causes. If untreated it could be fatal. Pathogens vary considerably. Treatment is intravenous antibiotics, drainage, and sometimes surgery. Methods The electronic medical records of all adult patients with acute thyroiditis 2003–2017 treated at the Karolinska University Hospital (catchment area 2 million) in Sweden were systematically reviewed. Results Five patients were found in the catchment area. One patient from another region but known to us was also included. Thus, six patients (aged 28–73 years) were included in the study. Median length of hospital stay was 7.5 days (4–79 days). All were treated with antibiotics (intravenous n = 5, oral n = 1). Total antibiotic treatment duration was 13.5 days (10–41 days). Blood cultures were positive in three (streptococcus pneumonia, streptococci sanguineous, pepto streptococci), deep tissue culture in three (Escherichia coli, Candida, Hemophilic influenza) and no positive culture at all in two. Drainage was used in three patients. All patients recovered without recurrences. Surgery was performed twice in the acute phase in one. There was no recurrence during 7 years (3–12) of follow-up, but one patient died after three years (severe heart failure and pneumonia). Conclusion Thyroid abscess in adults is extremely rare nowadays in the developed world. With prompt antibiotic therapy, drainage and in some cases thyroidectomy the prognosis seems favourable.

There is a paucity of epidemiological information on treatment and imaging of pituitary adenomas in Australia. Australian data on pituitary surgery, hospital admissions for pituitary adenomas, and pituitary imaging on patients 15 years and over were obtained from administrative databases between 2000/2001 and 2014/2015. Changes over time and by age and sex were assessed. In 2014/15 there were 37.7 pituitary procedures/million population, corresponding to a 35.4% (p

Glucose-lowering medications have occasionally been reported to cause hyponatremia, but the evidence is scarce.To explore the association between glucose-lowering medications and severe hyponatremia.Subjects hospitalized with a principal diagnosis of hyponatremia (n = 14,359) were compared with matched controls (n = 57,383). Data were derived by linkage of national population-based registers. Multivariable logistic regression adjusting for co-medication, diseases, previous hospitalizations, and socioeconomic factors was used to explore the association between hospitalization for hyponatremia and the use of different glucose-lowering medications. Furthermore, newly initiated (≤90 days) and ongoing use was investigated separately.Hospitalization due to hyponatremia.The unadjusted ORs (95% CI) for hospitalization due to hyponatremia were 1.41 (1.29-1.54) for insulins, 1.38 (1.27-1.50) for metformin, and 1.22 (1.07-1.38) for sulfonylureas. However, after adjustment for confounding factors the association was consistently reversed. Thus, for any glucose-lowering medication the adjusted OR was 0.63 (0.58-0.68). For insulins, metformin and sulfonylureas, adjusted ORs (95% CI) were 0.58 (0.52-0.65), 0.81 (0.72-0.90) and 0.81 (0.69-0.94), respectively. Odds ratios for newly initated medications were overall higher while those for ongoing treatment were further decreased. Thus, adjusted ORs (95% CI) for ongoing treatment with insulins, metformin, and sulfonylureas were 0.54 (0.48-0.61), 0.82 (0.73-0.91) and 0.78 (0.66-0.92).Glucose-lowering medications did not increase the risk for hospitalization due to severe hyponatremia. In fact, the association was inverse across all investigated drugs. The association may be mediated by pharmacologic mechanisms, but the uniform effects across drug-classes suggest properties of the diabetic disease are of importance.

Background Diabetic foot ulcers (DFU) are a common problem in longstanding diabetes. However, mortality outcomes in Australian patients with DFU are still unclear. Methods All patients with DFU presenting for the first time to the Multi-Disciplinary Foot Clinic (MDFC) at Royal Darwin Hospital, Northern Territory Australia, between January 2003 and June 2015 were included in this study. These patients were followed until 2017, or death. Individual patient data was extracted from hospital and primary care information systems. Kaplan-Meier survival curves were developed. The association between various risk factors and mortality was analysed using Cox regression. Results In total 666 subjects were screened, and 513 were included in the final analysis. Of these subjects, 247 were Indigenous and 266 were non-Indigenous. The median follow-up period was 5.8 years (IQR, 3.1–9.8). The mean age at inclusion was 59.9 ± 12.3 years and 62.8% were males. The majority (93.6%) had type 2 diabetes and the median diabetes duration was 7 years (IQR, 3–12). There were 199 deaths, with a 5-year-mortality rate of 24.6%, and a 10-year-mortality rate of 45.4%. The mean age at death was 64.6 ± 11.8 years. In a multivariate analysis, the following variables were associated with mortality (adjusted HR, 95% CI): age 1.04 (1.02–1.05, P

Dopamine agonists are the first line of therapy for prolactinomas, with high rates of biochemical control and tumour shrinkage. Toxicity is considered to be low and manageable by switching of agents and dose reduction. Dopamine agonist-induced impulse control disorders are well described in the neurology setting, but further data are required regarding this toxicity in prolactinoma patients. We performed a multicenter retrospective cohort study of eight men with prolactinomas and associated central hypogonadism. The eight men had no prior history of psychiatric disease, but each developed disruptive hypersexuality whilst on dopamine agonist therapy at various doses. Cabergoline, bromocriptine and quinagolide were all implicated. Hypersexuality had manifold consequences, including relationship discord, financial loss, reduced work performance, and illicit activity. We hypothesise that this phenomenon is due to synergy between reward pathway stimulation by dopamine agonists, together with rapid restoration of the eugonadal state after prolonged hypogonadism. We refer here to this distinct drug toxicity as 'dopa-testotoxicosis'. Given the profound impact in these patients and their families, cessation of dopamine agonists should be considered in men who develop hypersexuality, and pituitary surgery may be required to facilitate this. Awareness of this distinct impulse control disorder should enable further research into the prevalence, natural history and management of dopa-testotoxicosis. The condition is likely under-reported due to the highly personal nature of the symptoms and we suggest a simple written questionnaire to screen for hypersexuality and other behavioural symptoms within the first six months of dopamine agonist treatment.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene and is often fatal in its classic forms if not treated with glucocorticoids. In contrast, non-classic CAH (NCCAH), with a prevalence from 0.1 % up to a few percentages in certain ethnic groups, only results in mild partial cortisol insufficiency and patients survive without treatment. Most NCCAH cases are never identified, but unnecessary suffering due to hyperandrogenism, especially in females, can be avoided by a correct diagnosis. A 17-hydroprogesterone (17OHP) level above 300 nmol/L indicates classic CAH while 30-300 nmol/L in adult males or females (follicular phase or if anovulatoric) indicates NCCAH. The gold standard for diagnosing NCCAH is the ACTH stimulation test. Deletion, large gene conversions, and nine microconversion-derived mutations are the most common CYP21A2 mutations. However, almost 200 rare mutations have been described. Since there is a good genotype-phenotype relationship, genotyping provides valuable diagnostic, as well as prognostic information. Neonatal screening for CAH is now performed in an increasing number of countries with the main goal of reducing mortality and morbidity due to salt-losing adrenal crises in the newborn period. In addition, screening may shorten the time to diagnosis in virilized girls. Neonatal screening misses some patients with milder classic CAH and most NCCAH cases. In conclusion, diagnosing classic CAH is life-saving, but diagnosing NCCAH is also important to prevent unnecessary suffering.

Nonclassic congenital adrenal hyperplasia (NCAH) is one of the most frequent autosomal recessive disorders in man with a prevalence ranging from 0.1 % in Caucasians up to a few percent in certain ethnic groups. Most cases are never diagnosed due to very mild symptoms, misdiagnosing as polycystic ovary syndrome, or ignorance. In contrast to classic CAH, patients with NCAH present with mild partial cortisol insufficiency and hyperandrogenism and will survive without any treatment. Undiagnosed NCAH may result in infertility, miscarriages, oligomenorrhea, hirsutism, acne, premature pubarche, testicular adrenal rest tumors, adrenal tumors, and voice problems among other symptoms. A baseline measurement of 17-hydroxyprogesterone can be used for diagnosis, but the ACTH stimulation test with measurement of 17-hydroxyprogesterone is regarded as the golden standard. The diagnosis can be verified by CYP21A2 mutation analysis. Treatment is symptomatic and usually with glucocorticoids alone. The lowest possible glucocorticoid dose should be used. Long-term treatment with glucocorticoids will improve the symptoms but will also result in iatrogenic cortisol insufficiency and may also lead to long-term complications such as obesity, insulin resistance, hypertension, osteoporosis, and fractures. Although the complications seen in NCAH patients have been assumed to be related to the glucocorticoid treatment, some may, in fact, be associated with prolonged hyperandrogenism. Different risk factors and negative consequences should be monitored regularly in an attempt to improve the clinical outcome. More research is needed in this relatively common disorder.

Adrenal incidentalomas (AI) are an escalating clinical issue due to the increasing use of imaging techniques. Occasional patients with AIs have been reported who have subsequently been diagnosed with congenital adrenal hyperplasia (CAH) due to CYP21A2 mutations (21-hydroxylase deficiency) or carrier status. The objective of this investigation was to describe a larger cohort of patients with AI suspected to be caused by 21-hydroxylase deficiency or carrier status. All patients with AI and suspected CYP21A2 mutations during the last decade at a single center in Stockholm, Sweden, were included. Nine patients were identified (54 ± 19-year-old at presentation). Two-thirds were females and two-thirds were from Sweden, while one-third was from the Middle East. Almost all (8/9) had children, but two had experienced fertility problems. Four of six women had symptoms of hyperandrogenism, and three had previously been diagnosed with polycystic ovary syndrome. The majority (7/9) had multiple AIs. In two cases, the initial suspicion had been adrenal cortical cancer, but increased urinary pregnanetriol had lead to the diagnosis of CAH. Basal serum 17-hydroxyprogesterone was 10 (1.75-338) nmol/L. Seven was diagnosed with CAH (six non-classic, one simple virilizing). Two patients were considered to be carriers. However, in four patients, no CYP21A2 mutation was found and thus no confirmation of the diagnosis could be achieved. Patient presented with multiple AIs with hyperandrogenism or a Middle East origin screening for CAH or carrier status may be indicated.

To determine quality of life (QoL) in adult males with congenital adrenal hyperplasia (CAH). CAH males with 21-hydroxylase deficiency (n = 30), 19-67 years old, were compared with controls (n = 32). QoL was assessed using questionnaires on general living conditions and sexual issues, and the psychological well-being index (PGWB) form. Fewer CAH males than controls were students (3 vs. 25 %, P = 0.028) and more had blue-collar work (57 vs. 33 %, P = 0.023). Patients were less interested in sports (47 vs. 72 %, P = 0.034) and art/literature/film (10 vs. 47 %, P = 0.004). PGWB total score was 82.7 ± 13.7 versus 87.0 ± 11.1 (P = NS), but hydrocortisone/cortisone acetate treated scored lower than controls and prednisolone treated. Glucocorticoid over-treated had lower QoL than those with poor control (PGWB total score 77.1 ± 13.5 vs. 92.4 ± 11.1, P = 0.026) and controls (P = 0.025). Total PGWB score was positively correlated with adrenal androgens and steroid precursors. Subscale scores indicated that patients with late diagnosis were more depressive (12.1 ± 2.8 vs. 13.9 ± 1.4, P = 0.011) and had a lower self-control (11.3 ± 3.6 vs. 13.1 ± 1.0, P = 0.019) compared with controls. Sexual satisfaction was similar in spite of more patients being sexually inactive (27 vs. 6 %, P = 0.040). Adult CAH males differed from controls with respect to type of occupation and spare time interests but had similar QoL despite being less sexually active. Optimizing glucocorticoid therapy might further improve QoL. Some disadvantages found in patients diagnosed late will hopefully not be seen in patients diagnosed by neonatal screening, but this has yet to be studied.

Metastases from ileal neuroendocrine tumors (NETs) to the myocardium are rare and generally seen in patients with widespread metastatic NET disease. The objectives of this investigation were to describe the frequency of intracardiac metastases in ileal NET patients examined by 68Ga-DOTA-TOC-PET/CT and to describe the cases in detail. All 68Ga-DOTA-TOC-PET/CT examinations performed at the Karolinska University Hospital since 2010 until April 2012 were reviewed. In all, 128 out of 337 examinations were in patients with ileal NETs. Four patients had seven myocardiac metastases, yielding a frequency of 4.3 % in patients with ileal NETs. One patient had cardiac surgery while three were treated with somatostatin analogs. The cardiac metastases did not affect the patients’ activity of daily life. 68Ga-DOTA-TOC-PET/CT is an established imaging modality in identifying cardiac metastases in ileal NETs. Prospective studies are needed to confirm the true clinical value of 68Ga-DOTA-TOC-PET/CT in detecting cardiac metastases in both ileal and non-ileal NETs.

Background Adrenocortical carcinoma (ACC) is a rare malignant disease with a poor prognosis. Our aims were to study survival and to explore prognostic markers. Methods We retrospectively investigated the medical records of all 50 ACC patients at a single centre diagnosed between 1985 and 2012 and followed them up until 31/12/2014. Results Of this cohort, twenty six (52 %) were females. Adrenalectomy was performed in 48 patients (96 %), and twenty seven (54 %) were treated with adjuvant cytotoxic agents. The tumor sizes ranged from 6 to 20 cm. Overall survival time was 5.5 years (0.3–19.8), the two and five-year survival was 64 and 40 %, respectively. In ENSAT stage II 25/48 patients had a median survival of 7.0 years (0.7–15.5), in stage III 8/48 this was 1.9 (0.4 – 19.8), and in stage IV 15/48 it was 1.2 (0.3–3.6) years. Seventeen patients (34 %) were still alive at the end of 2014. The total follow-up time was 8.4 (0.3–19.8) years. Cell proliferation measured with Ki-67 had a median value of 15 % (2–80) and the urinary steroid profile was clearly pathologic in 29 of 43 (67 %) tested patients. The proliferation index did not significantly predict mortality (Ki-67 ≤ 10 vs. >10 %, 9.0 vs. 3.2 years, P = 0.0833), but resection margins did (R1 vs. R2, P = 0.0066; R0 vs. R2, P

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism that most often affects young East Asian males but increasingly also in other ethnic groups. The typical presentation is acute attacks varying from mild weakness to total paralysis starting at night or in the early morning a few hours after a heavy meal, alcohol abuse or strenuous exercise with complete recovery within 72 h. Signs and symptoms of hyperthyroidism may not be obvious. The hallmark is hypokalemia from increased cellular sodium/potassium-ATPase pump activity with transport of potassium from the extracellular to the intracellular space in combination with reduced potassium output. Recently, KCNJ18 gene mutations which alter the function of an inwardly rectifying potassium channel named Kir2.6 have been detected in 0-33 % of cases. Hence, the pathophysiology in TPP includes a genetic predisposition, thyrotoxicosis and environmental influences and the relative impact from each of these factors may vary. The initial treatment, which is potassium supplementation, should be given with caution due to a high risk of hyperkalemia. Propranolol is an alternative first-line therapeutic option based on the assumption that hyperadrenergic activity is involved in the pathogenesis. If thyroid function tests are unobtainable in the acute situation the diagnosis is supported by the findings of hypokalemia, low spot urine potassium excretion, hypophosphatemia with hypophosphaturia, high spot urine calcium/phosphate ratio, and electrocardiographic abnormalities as tachycardia, atrial fibrillation, high QRS voltage, and atrioventricular block. Definitive treatment is cure of the hyperthyroidism. The underlying mechanisms of TPP remain, however, incompletely understood awaiting further studies.

Background Complete and partial trisomy 9 is the fourth most common chromosomal disorder. It is also associated with various congenital characteristics affecting the cranio-facial, skeletal, central nervous, gastrointestinal, cardiac and renal systems. Very few cases have been reported in adults. Partial trisomy 9q is also associated with short stature, poor growth and growth hormone deficiency. This is the first reported case of an extensive endocrinology investigation of short stature in trisomy 9q and the outcome of growth hormone treatment. Case Presentation The case involves a 23-year-old female of pure partial trisomy 9q. The case involves a 23-year old female with pure partial trisomy 9q involving a duplication of 9q22.1 to q32, de novo, confirmed by genetic studies using fluorescene in situ hybridization (FISH) method. The diagnosis was at 6 years of age. She did not demonstrate all the congenital morphologies identified with trisomy 9q disorders especially in relation to multi-organ morphologies. There is also a degree of associated intellectual impairment. At prepuberty, she was referred for poor growth and was diagnosed with partial growth hormone deficiency. She responded very well to treatment with growth hormone and is currently living an independent life with some support. Conclusions Trisomy 9q is associated with short stature and failure to thrive. Growth hormone deficiency should be identified in cases of trisomy 9q and treatment offered. This is the first reported case of response to growth hormone replacement in partial trisomy 9.