Endocrine Abstracts

GATA3 mutations cause the congenital autosomal dominant Hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extract...

Classical congenital adrenal hyperplasia (CAH) usually presents at birth with ambiguous genitalia or adrenal failure. Non-classical forms can present later with precocious puberty or may only present, in early adult life, with hyperandrogenism and amenorrhoea.An 86 year old lady presented with a toxic confusional state, male pattern balding and hirsuitism. Little history was available. The provisional diagnosis was an androgen secreting tumour, however, a history taken fro...

Fatty liver (Hepatic Steatosis) is common in men with type 2 diabetes mellitus (T2DM). Furthermore there is a high prevalence of testosterone deficiency (up to 40%) in this population. Testosterone replacement therapy (TRT) has been shown to reduce elevated serum liver transaminase levels in hypogonadal men. The testicular feminised (Tfm) mouse exhibits a non-functional androgen receptor (AR) and low circulating testosterone levels. We have previously shown that a high-fat die...

Background: CYP11B2 encodes a steroid 11/18-β-hydroxylase that functions in mitochondria in the zonaglomerulosa of the adrenal cortex to synthesize the mineralocorticoid aldosterone. The enzyme catalyzes three necessary reactions: 11-β-hydroxylation of 11-deoxycorticosterone (11-DOC) to corticosterone, 18-hydroxylation of corticosterone to 18-hydroxycorticosterone (18-OHB); and 18-oxidation of 18-hydroxycorticosterone to aldosterone. Aldosterone synthase (<e...

IntroductionFamilial hypocalciuric hypercalcemia (FHH) is an autosomal dominant trait comprising hypercalcemia, hypophosphatemia and an unusually low renal clearance of calcium. The vast majority of FHH is caused by loss-of-function mutations in the gene CASR, which codes for the calcium-sensing receptor (CASR). CASR is a G-protein coupled membrane receptor expressed in the parathyroid glands and the kidneys, among other tissues. It is generally asymptom...

Background: Mutations in POU1F1/PIT1 gene, a pituitary-specific transcription factor, affect the development and function of the anterior pituitary and lead to combined pituitary hormone deficiency (CPHD).Objective: The clinical and genetic analysis of the twin patients presenting with mild form of CPHD and functional characterization of identified mutation.Cases: Five-year-old identical twin brothers were referred to determine the...

Background. Males with coronary disease have lower levels of endogenous testosterone than unaffected males. It is not known if low testosterone is a cause, effect or an epi-phenomenon of ischaemic heart disease.We hypothesised that androgen deficient men treated surgically with complete resolution of their symptoms would have a higher subsequent testosterone than men with persistent angina.Methods. Subjects were recruited after angiography. All subjects were biochemically ...

Introduction: Active acromegaly is associated with increased mortality, which has been attributed largely to cardiovascular disease.Aims: To evaluate the effects of chronic excess of GH and IGF1 on lipid metabolism in patients with active acromegaly.Subjects and methods: Ninety-seven patients (37 men and 60 women; aged 18–76 years) with macroadenoma of hypophysis (67 – somatotropinoma, 30 – somatomammotropinoma) were...

We present a diagnostically challenging case of a 22-year old female with short stature and recurrent admissions with severe hypokalaemia, hypocalcaemia and hypomagnesaemia since infancy.Case: Our patient was born at 38 weeks gestation following a pregnancy complicated by intrauterine growth restriction since 28 weeks. She had low birthweight of 2.4 kg and significantly shorter length and lower head circumference than expected. Mild dysmorphic features o...

We present a diagnostically challenging case of a 22-year old female with short stature and recurrent admissions with severe hypokalaemia, hypocalcaemia and hypomagnesaemia since infancy.Case: Our patient was born at 38 weeks gestation following a pregnancy complicated by intrauterine growth restriction since 28 weeks. She had low birthweight of 2.4 kg and significantly shorter length and lower head circumference than expected. Mild dysmorphic features o...