Endocrine Abstracts

The Prader Willi syndrome (PWS) is a complex, neurodevelopmental disorder resulting from absence of expression of imprinted genes in the 15q 11–13 region, usually due to deletion in the paternal chromosome (pd15q) or disomy of the maternal chromosome 15 (upd). Prompt diagnosis of PWS is beneficial for counselling families, managing the hypotonia and poor feeding that characterise the perinatal period and facilitating early interventions that may improve body composition a...

Anti-Mullerian hormone (AMH) is produced by the ovarian granulosa cells in immature follicles from around week 36 of gestation to the menopause. Expression is highest in pre-antral and early antral follicles. AMH has a generally inhibitory effect on early follicle development and possibly on the responsiveness of growing follicles to FSH. Serum AMH is markedly elevated in women with PCOS and increased concentrations have also been reported in the healthy prepubertal daughters ...

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...