Endocrine Abstracts

Triple A syndrome (also known as Allgrove’s syndrome, MIM #231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, alacrima and achalasia. Neurological features may also be present. Various combinations of these features may be present which evolve over time. Triple A syndrome is caused by mutations in the AAAS gene which encodes for the protein ALADIN, a member of the nuclear pore complex, whose function is incompletely under...

Background: PPNAD is a rare form of bilateral adrenal hyperplasia associated with Carney complex and PRKAR1A mutation. We report the experience of monitoring disease activity in two patients with PPNAD.Both patients (case 1: a 7.4-year-old boy and case 2: a 6.1-year-old girl) presented with rapid onset of cushingoid symptoms, weight gain and hypertension together with multiple freckles and lentigines.Biochemical analysis on both pa...

Exaggerated adrenarche (EA) has been linked with low birth weight (LBW) and future development of hyperinsulinaemia and ovarian hyperandrogenism. The Scottish Paediatric Endocrine Group conducted a 3-year prospective study (2004–07) to examine the auxology, insulin status and steroid biochemistry of patients with a clinical diagnosis of EA. Fifty-one patients (43F:8M) were recruited. A 10 ml blood sample (fasted) was taken for biochemical analysis. Pubertal status was ass...