Endocrine Abstracts

A 70 yr old man presented with an episode of syncope and complaints of leg weakness. He was hypogonadal with coarse facial features and a marked proximal myopathy. Hypopituitarism was confirmed biochemically: serum FT4 7.7 pmol/l (9.7-25.7), TSH 1.65 mIU/l (0.05-5.00), FSH 1.8 IU/l (1.6-18.0), LH 1.0 IU/l (2.0-18.0), testosterone 1.13 nmol/l (5.70-28.8) and 9am cortisol 122 nmol/l. Treatment with hydrocortisone and thyroxine was commenced. Further investigation revealed elevat...

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...

Disorders of sex development (DSD) are a collection of rare congenital conditions with diverse features and pathophysiology. Patients usually present at birth with atypical genitalia or with delayed puberty in adolescence. Biochemical and cytogenetic investigations may provide guidance on the underlying cause, however molecular genetic analysis is usually required to provide a definitive diagnosis and allows for personalised management of the patient. The current diagnostic se...