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Hedgehog signaling: Endocrine gland development and function
Author(s) -
Cohen M. Michael
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32917
Subject(s) - holoprosencephaly , diabetes insipidus , endocrine system , biology , endocrinology , medicine , pituitary gland , hedgehog , posterior pituitary , anterior pituitary , median eminence , fetus , hypothalamus , pregnancy , genetics , gene , hormone
The role of hedgehog signaling is analyzed in relation to the developing endocrine glands: pituitary, ovary, testis, adrenal cortex, pancreas, prostate, and epiphyseal growth. Experimental and pathological correlates of these organs are also discussed. The second section addresses a number of topics. First, the pituitary gland, no matter how hypoplastic, is present in most cases of human holoprosencephaly, unlike animals in which it is always said to be absent. The difference appears to be that animal mutations and teratogenic models involve both copies of the gene in question, whereas in humans the condition is most commonly heterozygous. Second, tests of endocrine function are not reported with great frequency, and an early demise in severe cases of holoprosencephaly accounts for this trend. Reported tests of endocrine function are reviewed. Third, diabetes insipidus has been recorded in a number of cases of holoprosencephaly. Its frequency is unknown because it could be masked by adrenal insufficiency in some cases and may not be recognized in others. Because of the abnormal hypothalamic‐infundibular region in holoprosencephaly, diabetes insipidus could be caused by a defect in the supra‐optic or paraventricular hypothalamic nuclei or in release of ADH via the infundibulum and posterior pituitary. © 2009 Wiley‐Liss, Inc.