Endocrine Abstracts

Stem cell transplants are used to treat and cure many types of haematological malignancies as well as rare solid-organ tumours. The conditioning regimes, medications and potential graft vs host disease can have effects on many organ systems in the body. The Endocrinology Department has designed a follow-up service over the past 3 years for patients in remission due to increasing awareness of the potential endocrinological and metabolic effects of allogenic stem cell transplant...

A 71-year-old male ex-publican presented to the Medical Emergency Unit suffering from lethargy, weight loss, dizziness on standing and dyspnoea on exertion. He had a past medical history of hypertension, ischaemic heart disease and alcoholic liver disease and he admitted to drinking 100 units of beer per week. His anthihypertensive medications included lisinopril and hydrochlorthiazide. On examination BMI was 35 kg/m2, blood pressure 85/65 mmHg and there was no bucc...

36-year-old gentleman referred by his GP with poor libido and erectile dysfunction associated with hypogonadotrophic hypogonadism. 0900 h testosterone 0.3 nmol/l (10–35), LH <0.2 IU/l, FSH 0.1 IU/l, prolactin 71 mIU/l (50–500).Symptoms started at time of break up of his marriage in 2011. No other symptoms of hypogonadism or of pituitary disease. Previously fit and well. Teetotal. On no medication. Patient an avid fitness fanatic. He had nev...

Background: Untreated hypothyroidism may be associated with cutaneous signs including coarse, dry skin and hair loss. Myxoedema (also known as thyroid dermopathy) is usually associated with Graves’ thyrotoxicosis but has been reported in patients with hypothyroidism. We describe an unusual skin disorder in a patient with autoimmune hypothyroidism, initially misdiagnosed as myxoedema.Case: A 41-year-old female with an extensive medical history includ...

Introduction: The management of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency is challenging and clinical practice is known to vary. Clinical guidelines were published in the Consensus Statement in 2002 encompassing evidence for best practice.Aims: To compare the management of paediatric patients with severe 21-OH deficiency in South East and West of Scotland (SE and WoS) with consensus guidelines. To determine the nature ...

Introduction: We evaluated the Lothian Adolescent Diabetes Service (LADS) to assess the service at the introduction of a clinical psychologist, to help guide service redevelopment and evaluate areas where psychological support would be most beneficial.Methods: Over 13 weeks, all adolescents with type 1 diabetes mellitus attending LADS clinics were invited to complete a questionnaire about their clinic experience and support with diabetes management. Cons...

Objective: To audit GH deficiency in the transition service at our institution.Methods: Patients between 19–25 years old were identified from the database of patients having GH replacement. Data were obtained from case notes and electronic records.Results: Twenty-four patients in the transition service were identified to be GH deficient, 13 female and 11 male. 14/24 had CNS or pituitary tumours treated in childhood, 11 having ...

ACTH insensitivity or familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder first described in 1959. We demonstrated in 1993 that about 25% of affected patients have nonsense or (more commonly) missense mutations in the ACTH receptor (melanocoprtin 2 receptor, MC2R). Functional analysis of these mutations had been especially difficult until our discovery in 2005 that the receptor requires an essential accessory factor – the melanocortin 2 recepto...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. Known genetic causes account for up to 30% of patients with KS, with FGFR1 mutations being identified in 10%. FGFR1-related KS has an autosomal dominant inheritance with incomplete penetrance. We present a family with KS due to a novel variably penetrant FGFR1 mutation, where the presenting features included cleft lip/palate and anosmia...

Case history: Hereditary paragangliomas (PGLs) associated with loss of function mutations in SDHx and VHL genes have revealed a remarkable connection between these conditions and the hypoxia signalling pathway: with a ‘pseudohypoxic profile’ driving hypoxia inducible factor (HIF) activity and tissue-limited cellular proliferation. We present a case of sporadic, multiple PGL mediated by HIF activation through true hypoxia. A 32 year old female was re...