A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1.
J Endocr Soc
; 1(4): 278-282, 2017 Apr 01.
Article
en En
| MEDLINE
| ID: mdl-29264484
ABSTRACT
CONTEXT Genetic defects affecting the expression and function of factors involved in pituitary development have been found to be associated with congenital hypopituitarism (CH). However, for most cases of CH, the etiology remains unknown. CASE DESCRIPTION We present an unusual case of an infant with CH, associated with septo-optic dysplasia with an absent anterior pituitary and an ectopic posterior pituitary gland, resulting from a de novo 8.04-Mb interstitial deletion of chromosome 1p31.1-1p31.3. The deleted region includes several genes that might be involved in pituitary development, including LEPR and JAK1. CONCLUSIONS:
Haploinsufficiency of LEPR and/or JAK1 might be associated with CH. This finding suggests a role for LEPR-mediated glycoprotein 130 signaling in human pituitary development.
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1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
J Endocr Soc
Año:
2017
Tipo del documento:
Article