Endocrine Abstracts

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant negative disorder characterised by the occurrence of multiple adenomas including hyperplasia and/or neoplasm of the parathyroid glands, pancreatic islets and pituitary glands. Germline mutations in the menin gene predispose to the MEN1 syndrome; however, about 10–20% of patients with MEN1 do not have a detectable menin mutation. Recently, a mouse strain with a MEN1-like phenotype has been re...

Introduction: We present the outcome for the first 21 patients undergoing neuronavigation–guided, endoscopic transphenoidal surgery for pituitary dependent Cushing’s disease in our centre since August 2001. All operations were consecutive, and undertaken by the same neurosurgeon and endoscopic nasal surgeon.Methods: Records are available for 20 cases. Pre and post operative management of cases was led by the endocrine team with standard assessm...

Previous studies investigating steroidogenic enzymes in the brain have often focused on only a few genes at a time, using animal models or pooled human RNA to investigate their expression. For this study, we obtained RNA from individual archived human brain tissue samples in order to analyse the transcription of twelve genes involved with steroid biosynthesis and metabolism within the cerebellum and hippocampus.We developed realtime RT-PCR assays for twe...

A 67 year old female presented with hypertension, oedema and cough. A CT scan of her abdomen showed an enlarged left adrenal gland. Urinary free cortisols were grossly elevated and low dose dexamethasone suppression testing confirmed Cushing’s Syndrome. 24 hour catecholamines were also elevated consistent with a diagnosis of phaeochromocytoma. ACTH levels were high (690 pg/ml) but pituitary MRI was normal. She was commenced on alpha and beta blockade in preparation for su...

(This poster is based on OC19)...

The two primary functions of the adult testis (sperm production and hormone production) need to be co-ordinated because sperm production is completely dependent on appropriate hormone (primarily testosterone) production. However, it is equally evident from animal studies that Leydig cell (LC) development and function are also affected by developmental and functional status of the seminiferous tubules. For example, development of the adult LC population is dependent on reduced ...

Historically, acute neurosurgical decompression has been considered treatment of choice for pituitary apoplexy with some studies advocating a conservative approach. We describe a patient, with reduced consciousness due to apoplexy of a gonadotroph adenoma, in whom there was spontaneous tumour shrinkage. A 68-year-old gentleman presented following a collapse with hypothermia, bradycardia and bitemporal hemianopia. Initial investigations showed low plasma sodium and glucose. Ove...

Smoking by women during pregnancy can result in a 30–48% reduction in sperm count and testis size in the exposed offspring in adulthood, probably because of a decrease in the number of Sertoli cells. Until recently Sertoli cell proliferation was thought to be androgen independent because fetal Sertoli cells do not express the androgen receptor, but new evidence suggests that androgens may play the lead role in regulating Sertoli cell proliferation in fetal (Tan et al.<...

Disorders of male reproductive health, including testicular cancer, cryptorchidism, hypospadias and low sperm counts, are common and may be increasing in incidence. These conditions manifest at different life stages (low sperm counts and testicular cancer in adulthood; cryptorchidism and hypospadias at birth) but are proposed to originate in fetal life. These disorders have therefore been hypothesized to comprise a ‘testicular dysgenesis syndrome’ (TDS), which result...

A 22 year old lady, in her third pregnancy, presented at 35 weeks gestation with modest hypertension (BP 130/90). She was known to carry a high risk mutation for Von Hippel Lindau syndrome with no prior disease manifestations. Urinary catecholamine levels were normal at 18 weeks gestation and she remained asymptomatic throughout her pregnancy. Repeat measurement at 35 weeks demonstrated elevated noradrenaline and normetadrenaline values (1761 nmol/24h and 9.69 micromol/24h res...