Endocrine Abstracts

Introduction: Around 15–20% of patients suffering from familial isolated pituitary adenoma (FIPA) possess heterozygous germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. AIP carriers are predisposed to pituitary adenomas with a penetrance of approximately 20%. No other tumours have been observed in subjects with AIP mutations, hence the name “isolated”. AIP is acting as a tumour suppressor gene in the p...

Introduction: Two childhood cases of somatotroph pituitary adenomas caused by aryl hydrocarbon receptor interacting protein (AIP) mutations highlight the importance of screening for familial isolated pituitary adenoma (FIPA) genes and wider family implications.Case 1: A 13.5-year-old girl presented with 5 years growth acceleration and size ten feet, with no headache or visual disturbance. Examination: coarse facial features, large hands and feet...

Introduction: Acromegaly is usually not a difficult condition to diagnose if the possibility of this diagnosis has been raised. However, there are a few conditions presenting with some aspects of acromegaly or gigantism but without growth hormone excess. Such cases are described as ‘pseudoacromegaly’ (acromegaloidism).Methods: A female patient was first investigated for GH excess at 10 y for tall stature since infancy (over 97th perc...

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...

Introduction: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPA). We report a 4-generation FIPA kindred with a heterozygous AIP gene deletion in exon 2, highlighting the benefits of genetic screening and management challenges in affected subjects and asymptomatic carriers.Patients: A 45y woman died of a spinal ependymoma (obligate carrier)...

Case history: A 63-year-old female presented with bi-temporal hemianopia. Pituitary MRI demonstrated a macroadenoma with suprasellar extension. Her medical history included a glomus tumour of the right ear treated with external beam radiotherapy (EBRT) 25 years previously. She had no evidence of pituitary hormone abnormality and had normal urinary metanephrines levels. She underwent transsphenoidal surgery with total resection and full recovery of her visual fields. Immunohist...

Introduction: Heterozygous mutations in the AIP gene are associated with young-onset pituitary adenomas while homozygous loss of AIP in animal models is lethal. As early diagnosis could lead to better outcomes, family members of AIP mutation-positive patients need follow up. The R304Q variant is commonly described as pathogenic based on clinical assessment. However, it is also present in the general population (minor-allele-frequency (MAF) 0.0007&#15...

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...

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...