Endocrine Abstracts

A 56-year-old woman presented with progressive swelling of her face and fatigability. Investigating for Cushing’s, her 24-hour Urine Free Cortisol was negative at 43 and 70nmol/24hr (Reference interval or R.I. < 146 nmol/24hr) with overnight dexamethasone suppression test showing full suppression of cortisol to 34nmol/l. Her short synacthen test was normal at 30-minute cortisol of 753nmol/l (R.I.>420); on Zumenon. Other pituitary function tests were unremarkable b...

Background: The displacement of cortisol from its binding globulin (CBG) in the Abbott Alinity immunoassay assumes an average concentration of CBG in all individuals. Displacement buffer volume, and/or composition, is frequently insufficient to displace cortisol where higher concentrations of CBG are present (e.g. with higher oestrogen concentrations). To address this bias, the Eastern Pathology Alliance (EPA) introduced a 1:2 dilution step on all serum cortisol specimens in D...

Introduction: Pallister–Hall syndrome (PHS) is characterized by a spectrum of anomalies which includes polydactyly, hypothalamic hamartoma, laryngotracheal cleft, bifid epiglottis, imperforate anus, and renal abnormalities. Hypoplastic cochlea is an infrequently reported association of PHS. The association of PHS with hyperinsulinaemic hypoglycaemia (HH) has not been previously reported in the literature.Case report: A baby girl was born by elective...

Introduction: Pallister-Hall syndrome (PHS) is a very rare congenital syndrome, and its exact prevalence is still unknown. The clinical diagnosis is usually made when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations consist of hypopituitarism, hypopituitarism, which can affect one or more pituitary axes, and precocious puberty. Here, we report the case of an 18-year-old young man in whom the diagnosis of PHS was delayed until his hospitalizatio...

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?...

Congenital hyperinsulinism of infancy (CHI) is a rare disorder of insulin dysregulation, resulting in persistent hypoglycaemia and its sequelae. More than half of patients have loss-of-function mutations in ABCC8 or KCNJ11 genes encoding subunits of ATP-sensitive potassium (KATP) channels. Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic loss of maternal heterozygos...

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Endocrinopathy is common in patients with HIV and presents a distinct series of challenges. Polypharmacy is common (both of prescribed and non-prescribed drugs) with the potential for drug-drug interactions and endocrine adverse effects of longterm medication. Structural pathology is also commoner than in the general population with the potential for both tumours and atypical infections affecting endocrine organs. Altered binding proteins are common, particularly high SHBG, af...

The true prevalence of clinically significant endocrine disease in HIV is difficult to get a handle on as the literature is in many cases Declaration of interesting or insufficiently illuminating. There is clearly potential for endocrine dysfunction, via many mechanisms including directly due to HIV, due to atypical infections and the drugs used to treat them, side effects of both prescribed and non-prescribed medications and structural pathology. Probably the best described e...

A 28-year-old lady who was born with ambiguous genitalia. A decision was made to rear the patient as male, and was subsequently registered as a boy. Investigations demonstrated a chromosomal mosaic pattern 45XO/46XY fitting the category of mixed gonadal dysgenesis. Internal organs were more suggestive of a female type: uterus, vagina, and fallopian tubes, gonads were variable but typically an ovary on one side and a testis on the other. HCG test showed a brisk rise in serum te...