Endocrine Abstracts

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Aryl hydrocarbon receptor interacting protein (AIP) is a multifunctional co-chaperone protein: it behaves as a tumour suppressor in the pituitary, but may have other roles including oncogenic function in other tissues. Protein phosphorylation is an important posttranslational modification that regulates protein activity, which is crucial for understanding protein function. To understand the molecular pathways altered in AIP deficient cells, we have performed glob...

Background: Aryl hydrocarbon receptor-interacting protein (AIP) has been identified as a tumour suppressor gene in pituitary gland, causing 10% of all familial isolated pituitary adenoma. Patients with heterozygous loss-of-function germline mutation of AIP develop young-onset growth hormone and/or prolactin-secreting pituitary tumours. Homozygous loss of AIP leads to embryonic lethality in several animal models (mouse, fruit fly, round worm). Mouse e...

Background: Gigantism is a rare condition with accelerated growth in childhood when the epiphyseal plates are not fused. Most cases are due to growth hormone (GH) secretion from a pituitary adenoma. Rarer causes of GH-related gigantism include somatotroph hyperplasia as part of McCune-Albright syndrome, Carney complex, X-linked acrogigantism or ectopic GHRH production.Case presentation: An 18-year-old male with c.249_252delGTCT;p.I85Sfs MEN1 mut...

Aim: The aim of investigation to study of the features of the Cushing’s subclinical syndrome in women (CS) with metabolic syndrome (MS)Material and methods: Under our supervision in the Department of neuroendocrinology of the Center of Endocrinology of MPH out-patient clinics with primary or secondary infertility in the period from September 2015 to July 2016 were examined 120 patients of childbearing age with metabolic syndrome in polycystic ovary ...

Background: Patients with heterozygote germline mutations in the aryl-hydrocarbon receptor interacting protein (AIP) gene (AIPpos) develop often aggressively growing tumours in early teenage years. The mechanism of this behaviour is not clear.Aim: The role of the microenvironment in the invasive phenotype of AIPpos pituitary tumours.Methods and results: We established that AIPpos GH-secreting tumours are infiltrated by a large numb...

Olfactory neuroblastoma (ONB) is a rare neuroendocrine tumour arising within the sino-nasal cavity. It occurs world wide, affecting both sexes, all ages and all races with no underlying predilection having yet been identified. ONB exhibits a range of phenotypes from indolent to very aggressive, and up to 5% cases are associated with ectopic hormone secretion. Despite current gold-standard treatment of surgical resection (either endoscopic or craniofacial resection) followed by...

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...

Introduction: Chromosome Xq26.3 microduplications have recently been identified, and explained this 11-year-old girl’s marked tall stature. Her severe phenotype illustrates X-linked acrogigantism (X-LAG) and demonstrates therapeutic benefit from growth hormone receptor blockade.Case: A 5.6-year-old girl presented with growth acceleration from 3 years and appearance of secondary dentition, greasy skin and blackheads from age 4. Past medical and famil...

A 31-year-old female was referred to Endocrinology clinic for review of her hypergonadotrophic-hypogonadism. She had cleft palate operation at age 3. At age 15y lack of pubertal signs prompted investigations showing XX genotype, FSH:120 IU/L, LH:32 IU/L and low E2. She was started on cyclo-progynova (elsewhere). She has tall stature, span 2.5 cm longer than height, bifid uvula, arachnodactyly with positive ‘wrist sign’, mild scoliosis, pectus excavatum and reduced mu...