A Novel Frame Shift Mutation in the GHRH Receptor Gene in Familial Isolated GH Deficiency: Early Occurrence of Anterior Pituitary Hypoplasia | Zendy

Rugia Shohreh | Zendy; Rosa SherafatKazemzadeh | Zendy; Youn Hee Jee | Zendy; Ari M. Blitz | Zendy; Roberto Salvatori | Zendy

Open Access

A Novel Frame Shift Mutation in the GHRH Receptor Gene in Familial Isolated GH Deficiency: Early Occurrence of Anterior Pituitary Hypoplasia

Author(s) -

Rugia Shohreh,

Rosa SherafatKazemzadeh,

Youn Hee Jee,

Ari M. Blitz,

Roberto Salvatori

Publication year - 2011

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-1031

Subject(s) - ighd , exon , genetics , biology , anterior pituitary , mutation , hypoplasia , gene , endocrinology , growth hormone deficiency , anatomy , growth hormone , hormone

Mutations in the genes encoding for GHRH receptor (GHRHR) and GH (GH1) are the most common cause of familial isolated GH deficiency (IGHD). GHRHR mutations are often associated with anterior pituitary hypoplasia (APH), but this has been reported almost exclusively in children older than 8 yr. We analyzed the GHRHR and measured pituitary size in a consanguineous family with the father and three of the five siblings with IGHD.

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