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Familial Isolated Pituitary Adenomas
adenomas to contact us if they are interested in taking part in the
study. Early-onset sporadic pituitary adenomas, especially
Harvinder S Chahal, MBBS, MRCP, is a Specialist Registrar in
somatotroph adenomas, have an increased chance of harboring
Endocrinology at the Centre for Endocrinology at St
germline
Bartholomew’s Hospital in London, and is a member of
AIP mutations, so genetic testing should be considered in
Professor Korbonits’ research group. He has obtained a
these index cases.
Medical Research Council (MRC) clinical research training
fellowship to undertake a PhD on the clinical, genetic, and
Conclusions
molecular aspects of familial isolated pituitary adenoma.
AIP has been identified as a novel gene involved in the development of
FIPA, especially in those cases involving growth-hormone-secreting
VK Ajith Kumar, MD, DHC, MRCP, MRCPCH, is Consultant in
tumors, and is probably a tumor-suppressor gene. Mutations in
Clinical Genetics in the Clinical Genetics Department at
AIP have
Great Ormond Street Hospital (North East Thames Regional
been found in ~20–40% of families with FIPA. This number will likely
Genetics Service). His areas of interest include endocrine
increase if all families are tested for large gene deletions. Patients with
disorders, dysmorphology, and cancer genetics. Dr Kumar
trained in Clinical Genetics at St George’s Hospital Medical
AIP mutations are diagnosed at younger ages, and their pituitary tumors
School and Guy’s Hospital and obtained his Certificate of
tend to be larger and more aggressive and respond less well to
Completion of Training (CCST) in 2005.
somatostatin analogs.
Márta Korbonits, MD, PhD, is a Professor of Endocrinology
Apparently unaffected relatives who are possible carriers require full
and Metabolism and a Clinical Academic Endocrinologist in
the Department of Endocrinology at St Bartholomew’s
clinical and biochemical investigation.
2
As the majority of FIPA patients
Hospital, Barts and the London School of Medicine. She has
do not harbor a special interest in pituitary adenomas, pituitaryAIP mutations, and the clinical phenotype (primarily the
age at onset and the pituitary tumor type) is different in the
tumorigenesis, and familial isolated pituitary adenomas as
AIP-
well as in the hormone ghrelin, which can stimulate growth
mutation-negative families, we think there is a strong possibility that
hormone release. She graduated in Budapest and gained
another gene, or genes, may be involved in the pathogenesis of these an MRC Clinician Scientist Fellowship in 2000.
FIPA cases. n
1. Daly AF, Rixhon M, Adam C, et al., High prevalence of hydrocarbon receptor-interacting protein gene mutations, syndromic features, Proceedings of the 90th Annual Meeting
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US ENDOCRINOLOGY 107
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