The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency1
نویسندگان
چکیده
منابع مشابه
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
OBJECTIVE Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS A multicentric study involving 46 cases of CPHD (17 familial cases belonging to s...
متن کاملA 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome.
The persistent müllerian duct syndrome, characterized by the lack of regression of müllerian derivatives, uterus and tubes in otherwise normally masculinized males, is a genetically transmitted disorder implicating either anti-müllerian hormone (AMH), a member of the transforming growth factor-beta superfamily, or its type II receptor, a serine/threonine kinase homologous to the receptors of ot...
متن کاملMolecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.
UNLABELLED Combined Pituitary Hormone Deficiency (CPHD) is a prevalent disease in Neuroendocrinology services. The genetic form of CPHD may originate from mutations in pituitary transcription factor (PTF) genes and the pituitary image in these cases may give a clue of what PTF is most probably mutated: defects in LHX4 are usually associated with ectopic posterior pituitary (EPP); defects in LHX...
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BACKGROUND Folate is critical for cell division, a major feature of in utero development. Dihydrofolate reductase (DHFR) is required to convert the folic acid used in supplements and for food fortification and the dihydrofolate produced by thymidylate synthase during DNA synthesis to the reduced folate forms used by the cell. OBJECTIVE We aimed to determine whether a common, recently discover...
متن کاملDeficiencies in the homeobox transcription factors LHX4 and PROP1 cause pituitary
The pituitary gland is known as the master gland because it controls the release of hormones that affect diverse processes including growth, metabolism and fertility. Many of the genes necessary for normal development and function of the specialized hormone producing cells of the anterior pituitary lobe have been identified (Dasen and Rosenfeld, 2001; WatkinsChow and Camper, 1998) The key genes...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1998
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.83.9.5142