X-linked panhypopituitarism

Definition:

X-linked panhypopituitarism is a rare genetic condition characterized by hypopituitarism, delayed pubertal development, and short stature. Duplications and deletions of Xq26-27 including SOX3 have been implicated in the etiology of this disease.

References:

[1]. Anne M Jelsig, et al. A complex phenotype in a family with a pathogenic SOX3 missense variant. Eur J Med Genet. 2018 Mar;61(3):168-172. [Content Brief]

[2]. F A Hol, et al. Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics. 2000 Oct 15;69(2):174-81. [Content Brief]

[3]. Kathryn S Woods, et al. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet. 2005 May;76(5):833-49. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.