Low hormone levels during an attack of systemic capillary leak syndrome normalizing after treatment.

We report herein the case of a patient with low blood levels of different hormones during a systemic capillary leak syndrome (Clarkson's disease) attack.

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

The G-protein-coupled receptor accessory protein MRAP2 is implicated in energy control in rodents, notably via the melanocortin-4 receptor1. Although some MRAP2 mutations have been described in people with obesity1-3, their functional consequences on adiposity remain elusive. Using large-scale sequencing of MRAP2 in 9,418 people, we identified 23 rare heterozygous variants associated with increased obesity risk in both adults and children. Functional assessment of each variant shows that loss-of-function MRAP2 variants are pathogenic for monogenic hyperphagic obesity, hyperglycemia and hypertension. This contrasts with other monogenic forms of obesity characterized by excessive hunger, including melanocortin-4 receptor deficiency, that present with low blood pressure and normal glucose tolerance4. The pleiotropic metabolic effect of loss-of-function mutations in MRAP2 might be due to the failure of different MRAP2-regulated G-protein-coupled receptors in various tissues including pancreatic islets.

Comparative assessment of five serum antimüllerian hormone assays for the diagnosis of polycystic ovary syndrome.

OBJECTIVE: To determine whether the different antimüllerian hormone (AMH) immunoassays on the market offer the same performance for the diagnosis of polycystic ovary syndrome (PCOS). DESIGN: A total of 95 serum AMH samples were retrospectively evaluated for a period of 3 months in the same laboratory. SETTING: Academic center laboratory. PATIENT(S): Forty-eight control women with regular menses and no hyperandrogenism and 47 patients with classic PCOS (i.e., hyperandrogenism plus oligoanovulation) attending our department for infertility. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): AMH measurement using five commercial assays. Method comparison and evaluation of the diagnostic performance by receiver operating characteristic analysis. RESULT(S): Values obtained with Gen II and AL-105i ELISAs were similar to those provided by EAI AMH/MIS, whereas automatic assays generated lower values. A significant mean difference was observed between Access Dxi (1.35 ng/mL) or Cobas (1.73 ng/mL) and EIA AMH/MIS ELISA. By ROC analysis each assay displayed similar efficiency for PCOS diagnosis. Sensitivities varied from 49% to 74% when setting the specificity at 92%. Cluster analysis run in the control group identified a subgroup of asymptomatic women with polycystic ovary morphology (PCOM). After exclusion of PCOM, the 95th percentile of controls was 4.2 ng/mL (30 pmol/L) with the automatic assays and 5.6 ng/mL (40 pmol/L) with the manual assays. CONCLUSION(S): Performance of the different AMH assays for PCOS diagnosis is comparable, providing that different threshold values are used for manual and automatic assays. Measurement of serum AMH level appears as a robust tool for the definition of PCOM.