Endocrine Abstracts

Joanne has two adolescent daughters with salt wasting CAH. Her talk will focus on CAH during this stage of transition and aims to inform on three areas: direct insight from her daughters on key matters for adolescents living with CAH and what they need; the changes for parents; and reflections on the long-term impact on parents raising children with CAH - how can professionals help?...

Women with Turner Syndrome should be followed up at a dedicated clinic which provides multidisciplinary input to offer holistic care. Any young person who has been under the care of a specialised paediatric clinic since early childhood will be anxious about the transition to adult services, and this is particularly so for girls with Turner Syndrome. A consultant-based clinic with familiar staff provides reassurance that one person or team is aware of their health needs and can...

Lesions of the hypothalamus and pituitary stalk are rare in adolescence. Congenital and acquired, benign and malignant lesions occur, and the spectrum of diagnoses differs from that in adults, with inflammatory conditions occurring less frequently.Lesions that develop in the hypothalamus may extend to the pituitary and present with features of pituitary hormone deficiencies, including arrest of growth and puberty in the adolescent age group, or visual di...

Lesions of the hypothalamus and pituitary stalk are rare in adolescence. Congenital and acquired, benign and malignant lesions occur, and the spectrum of diagnoses differs from that in adults, with inflammatory conditions occurring less frequently.Lesions that develop in the hypothalamus may extend to the pituitary and present with features of pituitary hormone deficiencies, including arrest of growth and puberty in the adolescent age group, or visual di...

Salivary androgens (testosterone, androstenedione, 17-hydroxyprogesterone, 11-ketotestosterone and 11-hydroxyandrostenedione) are currently analysed on samples collected by passive drool. Other saliva analyses such as cortisol are often collected using swabs such as Sarstedt Salivettes, therefore multiple samples are required if both cortisol and androgen analysis is requested. The aim of this study was to determine whether salivary androgen analysis could be performed on samp...

73 year old lady with metastatic pancreatic cancer referred to diabetes clinic with worsening of her diabetes control. She was primarily under care of Gastroenterology department, for her symptoms of weight loss, abdominal pain, diarrhoea, sweating and anaemia. Her scan showed metastatic pancreatic cancer arising from tail of pancreatic with metastasis to liver. The liver biopsy of secondary liver deposit was not conclusive. She had borderline diabetes at her presentation wors...

A 61-year-old ex-smoker with a background of chronic obstructive pulmonary disease, bilateral cataracts and advanced retinitis pigmentosa presented in April 2014 with a 5 months history of feeling generally unwell and weight loss. He was found thyrotoxic with TSH suppressed to less than 0.01 mU/l, free T4 of 38 pmol/l and free T3 of 26 pmol/l. On examination there was tunnel vision bilaterally and diplopia in all directions with no evidence of thyroid eye...

Background: Plasma metanephrine analysis is widely accepted as the test of choice for phaeochromocytomas and sympathetic extra-adrenal paragangliomas. It is important to analyse 3-methoxytyramine along with metanephrine and normetanephrine as 3-MT measurement has been shown to be useful in tumour localisation and also in determining whether metastasis has taken place. 3-MT analysis is challenging as the concentrations of 3MT of interest are very low, and the sensitivity of man...

Background: Hyponatraemia is the most common electrolyte abnormality, encountered in up to 30% of inpatients. Plasma sodium levels <125 mmol/l are classed as severe and can be associated with drowsiness, confusion, ataxia and personality change. In mild hyponatraemia, the patient is usually asymptomatic, although studies have shown chronic low sodium of any level may be associated with increased mortality and longer hospital stays. Vasopressin receptor antagonist (tolvapta...

Background: 22q11.2 deletion syndrome (22q11DS) displays a wide phenotypic spectrum and is the most common deletion syndrome with an estimated incidence of one in 4000 children. Short stature is a phenotypic feature of the spectrum; uncommonly, GH deficiency (GHD) has been identified as a cause of short stature within this population.Patients and methods: We describe a case series of four 22q11DS patients with concurrent GHD that have been followed up in...