Endocrine Abstracts

Introduction: We report a rare case of hyperandrogenism associated with portal hypertension as a result of Alagille syndrome.Case report: 21-yr old female presented with primary amenorrhoea and mild hirsutism. There was no history of delayed puberty or acne. Past medical history: Alagille syndrome (biliary tree hypoplasia, liver disease, portal hypertension, splenomegaly, Barrett’s oesophagus and pulmonary stenosis). Drug ...

Introduction: We report a rare case of hyperandrogenism associated with portal hypertension as a result of Alagille syndrome.Case report: 21-yr old female presented with primary amenorrhoea and mild hirsutism. There was no history of delayed puberty or acne. Past medical history: Alagille syndrome (biliary tree hypoplasia, liver disease, portal hypertension, splenomegaly, Barrett’s oesophagus and pulmonary stenosis). Drug ...

Background: TS, resulting from partial or complete loss of an X-chromosome, is a rare diagnosis1. In addition to its well-described phenotypic features2, a number of multi-systemic conditions may develop over the lifespan of a Turner female that require long-term surveillance which is challenging to deliver in today’s ‘specialised’ services NHS.Aim: To evaluate UHL service provision against the only guidelines for the...