Endocrine Abstracts

ACTH resistance syndromes (ARS) are rare, severe and heterogeneous diseases that include either familial glucocorticoid deficiency (FDG) or Allgrove syndrome (AS). FDG is a rare autosomal recessive disorder resulting from mutation in genes encoding either the ACTH-receptor (ACTHR) in FDG1, or its accessory protein MRAP, in FDG2. AS is characterized by adrenal insufficiency due to ACTH resistance, alacrimia, and achalasia secondary to mutations in the AAAS gene, which ...

Isolated central hypothyroidism (ICH) is a rare disease whose pathogenesis is so far linked to germinal mutations of TSHβ (several cases) or TRH receptor (TRHR) genes (only two cases). Here, we report the studies performed to elucidate the pathogenesis of idiopathic ICH in five cases (two men, three women) with low/normal TSH levels and low freeT4 levels (3–8 pmol/l). One male, negative at neonatal TSH screening, showed signs of severe hypothyroidism at 44...

Introduction: Hypothalamic–pituitary anomalies are well proven in Prader–Willi syndrome (PWS). In this context, it has been previously reported that central adrenal insufficiency (CAI) may be part of the PWS phenotype. However, the diagnostics of CAI is critical and debated, due to the lack of fully reliable tests. Several studies have looked at the clinical usefulness of the low dose (1 μg) short Synacthen test (LDSST) compared to the conventional dose (250 &#9...