Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency
نویسندگان
چکیده
منابع مشابه
Novel mutations associated with combined pituitary hormone deficiency.
The pituitary gland produces hormones that play important roles in both the development and the homeostasis of the body. A deficiency of two or several of these pituitary hormones, known as combined pituitary hormone deficiency, may present in infants or children due to an unknown etiology and is considered congenital or idiopathic. Advancements in our understanding of pituitary development hav...
متن کاملFrequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency.
Mutations in the prophet of Pit-1 (PROP-1) gene are responsible for most of the cases of combined pituitary hormone deficiencies (CPHD). We performed this study to determine the prevalence of PROP-1 mutations in a group of Turkish children with CPHD. Fifty-three children with the diagnosis of CPHD were included in this study. Clinical data were obtained from medical files, and hormonal evaluati...
متن کاملCentral hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene.
BACKGROUND One of the causes of combined pituitary hormone deficiency (CPHD) is represented by Prophet of Pit-1 (PROP-1) gene inactivating mutations. This disorder is generally characterized by GH, TSH, prolactin (PRL), and gonadotropin deficiency, but recent papers have described a concomitant alteration of the corticotrope function. OBJECTIVE To make a detailed investigation of the hypothal...
متن کاملMultiple pituitary hormone deficiency: beware of combined hormones deficiency
Multiple Pituitary Hormone Deficiency (MPHD) is an endocrine disorder due to combination of pituitary hormones deficiencies. Clinical manifestations vary due to the combination of individual hormone deficiencies. The diagnosis is established based on history, signs and symptoms, hormonal and radiological examination. MPHD should be managed by hormones replacement according hormone abnormalities...
متن کاملNovel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency
OBJECTIVE Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reporte...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2005
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2005-0570