Endocrine Abstracts

A 1 month old baby boy presented at a local district general hospital with failure to thrive. He was born to non-consanguineous Eastern European parents, with an 18 month old healthy sister. The term birth was unremarkable, with nil of note from the antenatal history. Initial clinical examination revealed a slightly low but stable blood pressure for age, but was otherwise normal.Investigations: Biochemistry results showed low plasma sodium (125 mmol/l) a...

Case history: A 61-year-old gentleman first presented to A&E following a collapse at work. After missing lunch, he became combative towards his colleagues and was found to be hypoglycaemic with capillary blood glucose of 2.5 mmol/l. Symptoms rapidly improved after oral glucose intake. The patient reported similar episodes in the past, usually occurring before meals and mainly if missing or delaying a meal. The patient did not have any past medical history of note, did not ...

17alpha hydroxylase deficiency accounts for less than 1% of all patients diagnosed with congenital adrenal hyperplasia. Almost 100 mutations in the CYP17A1 gene causing 17-hydroxylase/17,20-lyase deficiency (17OHD) have been described (OMIM 609300). CYP17A1 is expressed in both the adrenals and gonads. Hallmarks of 17OHD include hypertension, hypokalaemia, primary amenorrhoea and absence of secondary sexual characteristics. Most patients with 17OHD remain infertile.</...

Introduction: Adolescents with persistent gender dysphoria (GD) receive GnRH analogues to achieve pubertal arrest. It is unclear whether this is adequate to achieve biochemical suppression of gonadotrophin (LH, FSH) and sex hormone production.Methods: Gonadotrophins, testosterone and oestradiol were measured in GD patients (15–18 years) before and after monthly Gonapeptyl treatment (3.75 mg i.m.). Patients administered other analogues and/or cross-s...

Introduction: Neuroendocrine tumours (NET) are a diverse group of neoplasms originating from cells within the diffuse endocrine system. Urine 5-HIAA is commonly used in the diagnosis and monitoring of patients with NET in particular small intestinal neuroendocrine tumour with carcinoid syndrome. Urine 5-HIAA collection over a 24 hour period and the potential exposure to acid preservative in the sample container, limit the use of urine 5-HIAA.Methods: Sam...

We present a 32-year-old woman with recurrent hypoglycaemic episodes and a history of juvenile onset SLE. Over months, she experienced severe hypoglycaemic episodes with unconsciousness, occuring mainly in the early morning resulting in several hospital admissions. The patient had to take precautions like eating snacks between meals and before going to bed, and even setting an alarm clock to eat a bowl of porridge at 0200 h. She was of normal weight, did not present with any h...