Severe congenital hypopituitarism with low levels and age-dependent anterior pituitary hypoplasia: A clue to a PIT-1 mutation

被引：22

作者：

Ward, L

Chavez, M

Huot, C

Lecocq, P

Collu, R

Decarie, JC

Martial, JA

Van Vliet, G

机构：

[1] Univ Montreal, Hop St Justine, Dept Pediat & Imagerie Med, Montreal, PQ H3T 1C5, Canada

[2] Univ Liege, Lab Biol Mol & Genie Genet, Liege, Belgium

来源：

JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(98)70405-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 20-month-old boy presented with severe congenital growth hormone, thyrotropin, and prolactin deficiencies resulting from a de novo mutation of the PIT-1 gene. This form of congenital hypopituitarism should be suspected if pituitary anatomy is normal, especially if prolactin levels are low and, in boys, if the external genitalia are normal. Pituitary atrophy appears to be an age-dependent phenomenon in this condition.

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页码：1036 / 1038

页数：3

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