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Pituitary Disorders
somatotroph adenomas, have an increased chance of harbouring
germline AIP mutations, so genetic testing should be considered in Harvinder S Chahal is a Specialist Registrar in
these index cases. If no
Endocrinology at the Centre for Endocrinology at St
AIP mutation is found, all family members
Bartholomew’s Hospital in London, and is a member
with a 50% chance of inheriting the disease should be regularly
of Professor Korbonits’ research group. He has
tested. Currently, we are searching for gene(s) causing the disease obtained a Medical Research Council (MRC) clinical
in
research training fellowship to undertake a PhD on
AIP-negative families and would like patients with a family
the clinical, genetic and molecular aspects of familial
history of pituitary adenomas to contact us if they are interested in
isolated pituitary adenoma.
taking part in the study.
Conclusions
VK Ajith Kumar is Consultant in Clinical Genetics in
the Clinical Genetics Department at Great Ormond
AIP has been identified as a novel gene involved in the Street Hospital (North East Thames Regional Genetics
development of FIPA, especially in those cases involving growth-
Service). His areas of interest include endocrine
disorders, dysmorphology and cancer genetics.
hormone-secreting tumours, and is probably a tumour-suppressor
Dr Kumar trained in Clinical Genetics at St George's
gene. Mutations in AIP have been found in ~15–40% of families with Hospital Medical School and Guy’s Hospital and
FIPA. This number will likely increase if all families are tested for
obtained his CCST in 2005. He qualified in medicine
from Calicut Medical College in India, and his post-
large gene deletions. Patients with AIP mutations are diagnosed at
graduate qualifications include an MD in paediatrics (Calicut, 1994), an MRCPCH
younger ages, and their pituitary tumours tend to be larger and (1998), an MRCP (UK) and an MSc in medical genetics (Glasgow, 2001).
more aggressive and respond less well to somatostatin analogues.
Márta Korbonits is a Professor of Endocrinology and
To assess the penetrance of the disease in patients with Metabolism and a Clinical Academic EndocrinologistAIP
mutations, apparently unaffected relatives who are carriers need
in the Department of Endocrinology at St
Bartholomew’s Hospital, Barts and the London School
full clinical and biochemical investigation.
2
Germline AIP mutations
of Medicine. Professor Korbonits has a special interest
have been found in ‘apparently’ sporadic tumours. As the majority in pituitary adenomas, pituitary tumorigenesis and
of FIPA patients do not harbour
familial isolated pituitary adenomas as well as in
AIP mutations, and the clinical
the hormone ghrelin, which can stimulate growth
phenotype (primarily the age at onset and the pituitary tumour
hormone release. Professor Korbonits is the Program
type) is different in the Secretary for the Society of Endocrinology. She graduated in Budapest and receivedAIP-mutation-negative families, we think
there is a strong possibility that another gene, or genes, may be
an MRC Clinician Scientist Fellowship.
involved in the pathogenesis of these FIPA cases. n
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58 EUROPEAN ENDOCRINOLOGY
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