Endocrine Abstracts

Case history: FK is an 18 year old female, who attended the Turner’s syndrome clinic in our tertiary centre with primary amenorrhoea. Her family are originally from Ghana but she was born in Italy and lived there until moving to the UK in 2016. She was born full-term by normal delivery and Turner’s syndrome was diagnosed at 3 months of age due to characteristic phenotypic features. She was managed by the paediatric endocrinologists in Italy and was on growth hormone ...

Functional hypothalamic amenorrhoea (FHA) is an endocrine disorder secondary to a deficiency of pulsatile gonadatrophin-releasing hormone (GnRH) secretion. It is not related to hypothalamus-pituitary organic lesions, endocrine or systemic disease. The clinical profile is dependant on the degree of GnRH suppression – it can range from an inadequate luteal phase to hypothalamic amenorrhoea. The incidence of FHA ranges from 15% to 48% of the secondary amenorrheas. We present...

A three year old boy was referred for surgical correction of an undescended right testis. Intra-operatively he was found to have a hyperplastic right gonad which was in continuation with a unilateral fallopian tube, prompting analysis of his karyotype. This showed 46XX/XY mosaicism with 88% of the cells being XX and 12% XY. The post-operative histology confirmed mixed testicular and ovarian tissue in the right gonad. He appeared phenotypically male and had blaschko lines consi...

A 27 year old was referred to endocrine clinic for investigation of longstanding gynaecomastia. He had noticed loss of early morning erections. He never fully grew a beard and had no children. This was associated with temporal hair recession and intermittent headaches. On examination he appeared to be of asthenic built and youthful. He was tall with his upper body being longer than lower. He had widely spaced breasts and long arms. His testicular volume on examination was 1&#1...