Endocrine Abstracts

Introduction: Chromosome 18 rearrangements are postulated to be associated with short stature, of uncertain pathophysiology.Methods: Retrospective case review (short stature with chromosome 18 rearrangement), investigation for GH deficiency (peak GH <7 μg/l on glucagon or ITT, unless otherwise indicated) and determining response to GH treatment.Results: In 13 year six such cases were referred from the geneticists, mean ref...

We report a non-obese 14-year old white female who initially presented to the paediatric endocrine service aged 7 years with adrenarche. She was born small for gestational age (2nd centile) but was otherwise developmentally normal with no significant past medical history. There was maternal history of polycystic ovarian syndrome (PCOS) but no family history of type 2 diabetes (T2DM). A GnRH test showed a pre-pubertal response and she was discharged after 1 year of follow-up wi...

We present two families illustrating complex management issues introduced by mutational analysis in CAH.Family 1. A female index case presented at birth with ambiguous genitalia and was diagnosed with severe salt losing CAH. She is a compound heterozygote with two severe mutations: 659G (intron 2 splice site mutation) from her mother and CYP21 deletion from her father. Mother and mother's identical twin sister have compound heterozygosity for the mild mu...

Physiology shows vitamin D has a role in the immune system and glucose metabolism. Experimental and epidemiological studies demonstrate associations between type 1 diabetes mellitus (T1DM) and vitamin D levels. Vitamin D deficiency appears undesirable in T1DM, although its significance in aetiology and progression is controversial.We reviewed the outcome of implementing vitamin D screening at T1DM diagnosis. Methods were review of diabetes register, hosp...

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neuro-endocrine tumour (ROHHAD-NET) is a rare syndrome associated with high morbidity and mortality. With no clear aetiology, diagnosis is based on constellation of clinical features. Management is supportive, although various immunosuppressive agents have been used with variable benefits. We present 3 cases of ROHHAD with heterogeneous presentations and clinical feat...