Anthropometric and Pubertal Outcomes in Girls With Classical Congenital Adrenal Hyperplasia

Objective: To evaluate the anthropometric and pubertal outcomes, over a spectrum of treatment regimens and compliance. Methods: We reviewed records of the patients with classical CAH seen at the endocrinology clinic of a tertiary care center between 1995 and 2016. Results: 25 females were included in the study, the majority (80%) with simple virilizing variant. All patients had genital ambiguity since birth, yet 40% (10/25) presented much later with menstrual complaints. All patients received hydrocortisone, but some switched to dexamethasone (n=7) or prednisolone (n=4). 7/9 (77.9%) girls who achieved target height, were on hydrocortisone. Menarche occurred with corticosteroid treatment in 60% (15/25) patients at a median (IQR) age of 16 (12-22) years. Conclusion: Hydrocortisone seems to have a beneficial effect on linear growth. Once target height is achieved, dexamethasone may be considered as an alternative.

Differential loss of fat in polycystic ovary syndrome: A welcome or warning sign?

Lipodystrophy syndrome is a rare disorder characterized by selective deficiency of adipose tissue and severe insulin resistance resulting in metabolic complications. Its presentation as polycystic ovary disease (PCOD) is even rarer. We present a 23-year-old woman who came with complaints of oligomenorrhoea and hirsutism. When specifically asked, she accepted noticing loss of fat from some areas of her body. Examination showed loss of fat from the face, buttocks and thighs. Her investigations revealed deranged blood sugars, transaminitis, dyslipidaemia and elevated serum testosterone; ultrasonography showed fatty liver and polycystic ovary. Fat composition measurement revealed loss of fat from lower limbs and increased ratio of trunk-to-leg fat. Based on these findings, a diagnosis of lipodystrophy was made. She was started on metformin, statins and ursodeoxycholic acid. Blood sugars, lipid profile and dyslipidaemia improved over a period of 6 months. We suggest that in lean patients with PCOD, lipodystrophy becomes a differential diagnosis, so attention should be paid to body fat distribution in them. Despite normal body mass index (BMI), these patients tend to develop metabolic complications as in our patient (BMI 21.5). This diagnosis has long-term implications in view of its association with metabolic complications.