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...

Vandetenib has been used as novel treatment of locally invasive medullary carcinoma of thyroid. We report the use of Vandetenib in a paediatric patient with inoperable medullary carcinoma of thyroid gland. Our patient presented to the dental surgeons at age 12 years with tongue and lip swellings. Biopsy demonstrated mucosal neuromas suggestive of MEN2B. He was clinically euthyroid but had a firm goitre. Ultrasound showed a large heterogenous thyroid mass encasing the common ca...

Introduction: As there are scarce data on the clinical case load and multidisciplinary input provided for patients with osteogenesis imperfecta (OI), we performed a survey of patients with OI attending bone and genetic clinics in Glasgow.Methods: Clinical details of 53 children(M:28) and 23 adults(M:9) were obtained by a review of case records.Results: The median age at presentation in children was 4.5 yrs (range 0.2–13.5), wi...