Endocrine Abstracts

Introduction: 46,XX gonadal dysgenesis without the phenotype of Turner’s syndrome is described as ‘pure’ and is not usually associated with other anomalies with the exception of the rare Perrault syndrome (46,XX-GD with sensori-neural deafness). We describe a girl in whom tall stature was a dominant feature.Case report: A girl was referred aged 15.6 years with primary amenorrhoea and slim build. Examination showed height 172.5 cm (+1.56 <s...

Introduction: Arthrogryposis multiplex congenita is a rare congenital disorder characterised by multiple joint contractures. The association with hypopituitarism has only been reported once before. We report two further children with multiple pituitary hormone deficiencies (MPHD) and arthrogryposis.Case reports: Case 1: this 12-year-old girl was born to consanguineous parents; a previously affected sibling had died. She was dysmorphic with multiple joint...

Introduction: Prader–Willi syndrome (PWS) is characterised by hypotonia, obesity, short stature, and hypogonadism probably due to hypothalamic dysfunction (hypogonadotropic hypogonadism (HH)). Exaggerated adrenarche is however commonly noted in these patients. Early puberty is rarely described: we report two girls with PWS diagnosed with premature sexual maturation.Case reports: Case 1: this 8-year-old girl was neonatally diagnosed with PWS (materna...

Introduction: Measurement of the anterior pituitary hormone prolactin is often performed in patients with pituitary pathology. Mild hyperprolactinemia occurs in subjects with hypothalamic disorders and/or pituitary stalk dysfunction, and is also described in patients with isolated optic nerve hypoplasia (ONH), this is proposed to be due to decreased dopaminergic tone.Objective: To assess prolactin levels in patients with septo-optic dysplasia (SOD) (with...