Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita

被引：34

作者：

Kaiserman, KB ^{[1
]}

Nakamoto, JM ^{[1
]}

Geffner, ME ^{[1
]}

McCabe, ERB ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Childrens Hosp, Dept Pediat, Div Endocrinol & Genet, Los Angeles, CA 90095 USA

来源：

JOURNAL OF PEDIATRICS | 1998年 / 133卷 / 02期

关键词：

D O I：

10.1016/S0022-3476(98)70242-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

An infant and his uncle, both with adrenal hypoplasia congenita, shared the same DAXI mutation. The adolescent uncle had hypogonadotropic hypogonadism, but the infant had a normal minipuberty of infancy. These observations suggest differences in the physiologic mechanisms regulating the hypothalamic-pituitary-gonadal axis in infancy and adolescence.

引用

收藏

页码：300 / 302

页数：3

相关论文

共 21 条

[1] MICROPENIS - MEDICAL AND SURGICAL IMPLICATIONS [J].

AARONSON, IA .

JOURNAL OF UROLOGY, 1994, 152 (01) :4-14

[2]

[Anonymous], 1992, MENDELIAN INHERITANC

[3] GNRH AND HCG TESTS ARE BOTH NECESSARY IN DIFFERENTIAL-DIAGNOSIS OF MALE DELAYED PUBERTY [J].

DUNKEL, L ;

PERHEENTUPA, J ;

VIRTANEN, M ;

MAENPAA, J .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1985, 139 (05) :494-498

[4] HYPOPHYSIO-GONADAL FUNCTION IN HUMANS DURING FIRST YEAR OF LIFE .1. EVIDENCE FOR TESTICULAR ACTIVITY IN EARLY INFANCY [J].

FOREST, MG ;

SIZONENKO, PC ;

CATHIARD, AM ;

BERTRAND, J .

JOURNAL OF CLINICAL INVESTIGATION, 1974, 53 (03) :819-828

[5] GLYCEROL KINASE-DEFICIENCY WITH NEUROMUSCULAR, SKELETAL, AND ADRENAL ABNORMALITIES [J].

GUGGENHEIM, MA ;

MCCABE, ERB ;

ROIG, M ;

GOODMAN, SI ;

LUM, GM ;

BULLEN, WW ;

RINGEL, SP .

ANNALS OF NEUROLOGY, 1980, 7 (05) :441-449

[6] Genomic sequence of the DAX1 gene: An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism [J].

Guo, WW ;

Burris, TP ;

Zhang, YH ;

Huang, BL ;

Mason, J ;

Copeland, KC ;

Kupfer, SR ;

Pagon, RA ;

McCabe, ERB .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (07) :2481-2486

[7] EXPRESSION OF DAX-1, THE GENE RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM, IN THE HYPOTHALAMIC-PITUITARY-ADRENAL GONADAL AXIS [J].

GUO, WW ;

BURRIS, TP ;

MCCABE, ERB .

BIOCHEMICAL AND MOLECULAR MEDICINE, 1995, 56 (01) :8-13

[8] DIAGNOSIS OF X-LINKED ADRENAL HYPOPLASIA CONGENITA BY MUTATION ANALYSIS OF THE DAX1 GENE [J].

GUO, WW ;

MASON, JS ;

STONE, CG ;

MORGAN, SA ;

MADU, SI ;

BALDINI, A ;

LINDSAY, EA ;

BIESECKER, LG ;

COPELAND, KC ;

HORLICK, MNB ;

PETTIGREW, AL ;

ZANARIA, E ;

MCCABE, ERB .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1995, 274 (04) :324-330

[9] Adrenal hypoplasia congenita with hypogonadotropic hypogonadism - Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production [J].

Habiby, RL ;

Boepple, P ;

Nachtigall, L ;

Sluss, PM ;

Crowley, WF ;

Jameson, JL .

JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (04) :1055-1062

[10]

KATSUMATA K, 1997, 79 ANN M END SOC JUN