Endocrine Abstracts

A 29 year old female presented with a two year history of recurrent numbness and tingling in her hands. Trousseau’s sign was positive. Investigations confirmed hypocalcaemia with serum calcium 1.64 nmol/L (2.10–2.60), phosphate 1.23 nmol/L (0.80–1.55), alkaline phosphatase 82 U/L (35–120). Parathyroid hormone was inappropriately normal at 36 pg/ml (10–65), Vitamin D 78 nmol/L (50–75). Her mother reported a history of hypocalcaemia when she was two...

20% of cases of FIPA have AIP gene mutations. These adenomas are often large and invasive. Our index case presented aged 13 with pituitary apoplexy. Histology showed necrotic tissue. He continued to grow and was 195 cm 4 y later. GH excess was confirmed. After treatment with octreotide and radiotherapy remission was achieved. His first cousin had also been successfully treated for acromegaly. This led to the original familial diagnosis. Subsequently, the c.910C>T, p.R304X ...

Background: Head and neck paragangliomas (HNPGL) are rare, usually benign slow-growing tumours arising from neural crest-derived tissue. Definitive treatment strategies for HNPGL have not been clearly defined.Aims: To provide a comprehensive review of our institutional experience of the clinical features, investigations, management and follow up of this cohort.Methods: Baseline clinical information was taken from a prospectively ma...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

Approximately 25% of the reported cases of MTC are familial. Familial MTC can occur as part of MEN2-syndrome or as familial MTC alone (fMTC) defined as more than ten carriers in the kindred, or multiple carriers or affected members over the age of 50 with an adequate medical history excluding pheochromocytoma. The vast majority of MEN2 families (98%), as well as fMTC kindreds (88%) harbour a RET mutation. In MEN2A, mutations at codon-634 (exon-11) account for 85% of all mutati...

Mutations in the co-chaperone molecule AIP account for a predisposition to pituitary tumours in some families with familial isolated pituitary adenomas (FIPA). We now report on four apparently-unrelated families with the same mutation and originating from the same geographical area, suggesting a possible founder mutation.The index patient had gigantism (19 years, 208 cm) and had a female 4th cousin, once removed (13 years, 191 cm) with a large pituitary ...

Introduction: Approximately 25% of medullary thyroid cancer (MTC) cases arise in a familial setting, either as MEN2 or fMTC. While most of these are caused by mutations in the RET gene, a few families have unidentified mutations. Recently, a frameshift mutation in the ESR2 gene (coding oestrogen receptor beta) was found in a family with RET-negative fMTC associated with C-cell hyperplasia. In vitro, transfection of mutant ESR2 led t...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by lifelong elevation of serum calcium concentrations with inappropriately low urinary calcium excretion. Three types referred to as FHH1, FHH2 and FHH3 and located on chromosomes 3q21.1, 19p and 19q13.3, respectively, have been reported. FHH1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), accounts for >65% of FHH patients. To identify the gen...

Familial hypocalciuric hypercalcaemia (FHH) comprises three types: FHH1, FHH2, and FHH3, which are due to mutations of the calcium-sensing receptor (CaSR), G-protein α 11 subunit (Gα11), and adaptor protein-2 sigma subunit (AP2σ), respectively. The aims of this study were: to assess for genotype–phenotype correlations among the three reported FHH3-causing AP2σ mutations, which all involve the Arg15 residue, and comprise Arg15Cys, Arg15His, and Arg15Leu...