Endocrine Abstracts

Steroid 17α-hydroxylase (CYP17A1) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH). Both, 17-hydroxylase and 17,20-lyase reactions are catalysed by CYP17A1. Here, we analysed the structural and functional consequences of 3 novel CYP17A1 mutations found in 3 patients suffering from 17OHD. Two individuals with 46,XY DSD, presented with tall stature and one with arterial hypertension. Mutation screening of the CYP17A1 gene revealed comp...

Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...

Objectives: To determine the prevalence and clinical significance of pituitary dysfunction following moderate/severe childhood traumatic brain injury (TBI).Subjects and methods: We recruited 25 survivors of childhood TBI (19 males). Age at study was 5.4–18.9y (median 13.0y). Median time since TBI: 4.4y (2.3–6.7y). Subjects provided an early morning urine sample for osmolality and underwent basal hormone evaluation at 0800–1000h, followed b...

We have previously shown that obese children with prior fracture have a lower bone mass for body size. We further hypothesised that obese children would fail to gain bone mass in relation to body size over a one-year period compared to lean controls.Methodology: Out of 103 children recruited into obese (BMI>98th percentile) and control (BMI<98th percentile) groups at baseline, 66 children aged 6.5–18 years returned at one year. Total body an...