Endocrine Abstracts

Background: Pituitary carcinoma is extremely rare and constitute only 0.1−0.2% of all pituitary tumors. Diagnosis is on evidence of metastasis, although these criteria has been challenged. Majority of pituitary carcinomas are functioning tumours, usually secreting ACTH (42%) or prolactin (33%). Common sites of metastasis include the brain, spinal cord, leptomeninges, bone, liver, lymph nodes and lung. Mean survival after detection of metastasis is around 1−2 years....

Introduction: Somatotroph adenomas are GH producing pituitary adenomas. There are two main types based on granulation pattern: sparsely and densely granulated. Each type also has their own fibrous body pattern. Sparsely granulated (SG) have a ‘dot-like’ fibrous body pattern and the densely granulated (DG) have a ‘perinuclear’ fibrous body pattern. The fibrous bodies are mainly composed of keratin 8. Previous microarray analysis revealed six differentially e...

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: Patients with aryl hydrocarbon receptor-interacting protein (AIP) gene mutations are predisposed to large, invasive, GH- or PRL-secreting pituitary tumours, occurring at a younger age and poorly responsive to treatment. The zebrafish (ZF) model provides anatomical and functional similarities to human neuroendocrine system.Methods: AIP knock down (KD) ZF embryos were generated using antisense morpholino oligonucleotides injected at one-cell ...

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...

Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 30% of pituitary gigantism cases. However, pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes. We report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation-positive GH-secreting pi...

A 34-year-old male with two decades of gender identity issues considered gender reassignment and attended pre-orchidectomy sperm-banking when he was found to be azoospermic. He described a history of difficulty learning to play the piano and of deep-vein thrombosis at 19 years. He was 187 cm tall with a span of 189.7 cm, and exhibited L-sided undescended testis, R testis 1.8×2.5×3.7 cm, bilateral prominent gynaecomastia, a female body habitus, micropenis, bimanual sy...

Background: Familial isolated pituitary adenoma (FIPA) is recently identified autosomal dominant condition with incomplete penetrance. Heterozygote mutations have been identified in the aryl-hydrocarbon receptor interacting protein (AIP) gene in 20–30% of FIPA families. AIP mutation positive patients have distinct phenotype: the disease is occurring at a younger age and have more aggressive tumours.Aims: The aim of this study was to perform comparat...

Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene predispose to early onset pituitary adenoma, with a preponderance of somatotrophinomas. Patients harbouring an AIP mutation respond poorly to somatostatin analogue (SSA) treatment. On the other hand, a subset of sporadic somatotrophinomas with no AIP mutations show low AIP protein expression and exhibit a decreased response to SSA treatment as well. microRNAs are small...

A 29y female presented with an 8y history of hypomagnesaemia. It was noted incidentally when hospitalised with mumps-related pancreatitis. Subsequently symptomatic hypomagnesaemia, with headaches and lethargy, was treated with magnesium glycerol phosphate 4 mg TDS, but she remained symptomatic with occasional need of IV Mg2+. It was thought that she was poorly compliant with her oral Mg2+ supplements. At presentation to our department for follow-up of her...