Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team

Validity and reliability of the Thai version of the Utrecht Gender Dysphoria Scale-Gender Spectrum (UGDS-GS) in Thai youths and young adults with gender dysphoria

Background Many people who are gender variant have undiagnosed gender dysphoria, resulting in delayed receipt of gender-affirming support and prolonged distress in living with their gender-non-conforming sex. The Utrecht Gender Dysphoria Scale-Gender Spectrum (UGDS-GS) is a newly developed tool that measures dissatisfaction with gender identity and expression. However, there is no translated version of this tool in Thai. Moreover, the sensitivity, specificity and cut-off point of the UGDS-GS to detect gender dysphoria in people who are transgender remain unknown.Aims This study translated the UGDS-GS into Thai and then examined the validity and reliability of the Thai UGDS-GS.Methods 185 participants with and without gender dysphoria were selected from the Gender Variation Clinic in Ramathibodi Hospital and from social media platforms. The UGDS-GS was translated into Thai according to the World Health Organization (WHO) guidelines on translation. The medical records of patients with gender dysphoria and semi-structured interviews were used to confirm the diagnosis of gender dysphoria. Subsequently, the validity and reliability of the instrument were analysed.Results The mean age of participants was 30.43 (7.98) years among the 51 assigned males (27.6%) and 134 assigned females (72.4%) at birth. The Thai UGDS-GS average score was 77.82 (9.71) for those with gender dysphoria (n=95) and 46.03 (10.71) for those without gender dysphoria (n=90). Cronbach’s alpha coefficient was 0.962, showing excellent internal consistency. In addition, exploratory factor analysis showed compatibility with the original version’s metrics. The value of the area under the curve was 0.976 (95% confidence interval: 0.954 to 0.998), indicating outstanding concordance. At the cut-off point of ‘60’, sensitivity and specificity were good (96.84% and 91.11%, respectively).Conclusions The Thai UGDS-GS is an excellent, psychometrically reliable and valid tool for screening gender dysphoria in clinical and community settings in Thailand. The cut-off point of ‘60’ scores suggests a positive indicator or a high chance of gender dysphoria

A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test. A small right adrenal adenoma of 0.8 cm was shown on computed tomography while magnetic resonance imaging revealed nodularity of both adrenal glands. The histological report confirmed PPNAD using laparoscopic right adrenalectomy, and subsequent left adrenalectomy was performed 6 months later. She had inherited heterozygosity of a novel germline mutation of the PRKAR1A gene (g.114213T>G or c.709-5T>G). This splice site mutation results in exon 8 skipping. Her father carrying the same mutation had no clinical features of either PPNAD or Carney complex. This novel PRKAR1A gene mutation, c.709-5T>G, is reported here for the first time manifesting as an incomplete clinical expression of the isolated form of PPNAD and being inherited with low penetrance unlike other inherited mutations of the Carney complex which have a penetrance of almost 100%

Proton pump inhibitors linked to hypomagnesemia: a systematic review and meta-analysis of observational studies

<div><p></p><p><i>Background</i>: The reported risk of hypomagnesemia in patients with proton pump inhibitor (PPI) use is conflicting. The objective of this meta-analysis was to assess the association between the use of PPIs and the risk of hypomagnesemia. <i>Methods</i>: A literature search of observational studies was performed using MEDLINE, EMBASE and Cochrane Database of Systematic Reviews from inception through September 2014. Studies that reported odd ratios or hazard ratios comparing the risk of hypomagnesemia in patients with PPI use were included. Pooled risk ratios (RRs) and 95% confidence interval (CI) were calculated using a random-effect, generic inverse variance method. <i>Results</i>: Nine observational studies (three cohort studies, five cross-sectional studies and a case-control study) with a total of 109,798 patients were identified and included in the data analysis. The pooled RR of hypomagnesemia in patients with PPI use was 1.43 (95% CI, 1.08–1.88). The association between the use of PPIs and hypomagnesemia remained significant after the sensitivity analysis including only studies with high quality score (Newcastle–Ottawa scale score ≥ 8) with a pooled RR of 1.63 (95% CI, 1.14–2.23). <i>Conclusions</i>: Our study demonstrates a statistically significant increased risk of hypomagnesemia in patients with PPI use. The finding of this meta-analysis of observational studies suggests that PPI use is associated with hypomagnesemia and may impact clinical management of patients who are taking PPIs and at risk for hypomagnesemia related cardiovascular events.</p></div