Endocrine Abstracts

Familial hypopituitarism is a heterogeneous group of disorders with variable clinical, biochemical and genetic characteristics. X-linked forms have been described in rare kindreds, though clinical and molecular features are not well defined. We present a case of X-linked hypopituitarism in a young male.The patient, currently 39 years, had an early course complicated by neonatal jaundice, seizures and subsequent failure to thrive. Hypothyroidism was diagn...

Hormonal therapies in the form of oestrogens, anti-androgens and progestogens are often used in the treatment of male-to-female transsexuals. We present the case of a 36 year old phenotypic male with karyotype 46XY who presented with normoprolactinaemic galactorrhoea likely to be related to prior oestrogen administration. He had been self-administering oestrogen and progesterone preparations continuously for 7 years (aged 26 - 33 years) in an attempt to develop female phenotyp...

An ovo-testis (a gonad showing aspects of both ovarian and testicular function) occurs in some 60% of true hermaphrodites. They may be located in the labio-scrotal folds, inguinal canal or abdomen and are often removed prior to or shortly after the onset of puberty. Though the potential for ovulatory function within such a gonad is acknowledged, it is rarely witnessed and there are few detailed descriptions of the phenomenon. We describe serial observations of this process in ...

Polycystic ovary syndrome (PCOS) is characterised by reproductive, hyperandrogenic and dysmetabolic features (including insulin resistance). There remain major questions about the basis of the metabolic dysfunction in PCOS and about its genetic aetiology. Having genotyped samples from >460 PCOS cases and >1300 female controls, I recently successfully identified the first genome-sequence variant (the FTO gene) to be implicated in susceptibility to PCOS (Barber <i...

Introduction/background: Hypothalamic Amenorrhea (HA), or stress-induced anovulation, is one of the most common causes of secondary amenorrhea (1,2) and accounts for the reproductive dysfunction seen in under nutrition, excessive exercise, sever emotional stress and chronic disease. From a teleological standpoint, in the face of nutritional or physical stress, it is adaptive for an organism to allocate energy resources for its own survival rather than the costly process of rep...