Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita

被引：33

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

页码：300 / 302

页数：3

共 21 条

[1] MICROPENIS - MEDICAL AND SURGICAL IMPLICATIONS
AARONSON, IA
[J]. 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
DUNKEL, L
PERHEENTUPA, J
VIRTANEN, M
MAENPAA, J
[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
FOREST, MG
SIZONENKO, PC
CATHIARD, AM
BERTRAND, J
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1974, 53 (03) : 819 - 828
[5] GLYCEROL KINASE-DEFICIENCY WITH NEUROMUSCULAR, SKELETAL, AND ADRENAL ABNORMALITIES
GUGGENHEIM, MA
MCCABE, ERB
ROIG, M
GOODMAN, SI
LUM, GM
BULLEN, WW
RINGEL, SP
[J]. 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
Guo, WW
Burris, TP
Zhang, YH
Huang, BL
Mason, J
Copeland, KC
Kupfer, SR
Pagon, RA
McCabe, ERB
[J]. 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
GUO, WW
BURRIS, TP
MCCABE, ERB
[J]. BIOCHEMICAL AND MOLECULAR MEDICINE, 1995, 56 (01) : 8 - 13
[8] DIAGNOSIS OF X-LINKED ADRENAL HYPOPLASIA CONGENITA BY MUTATION ANALYSIS OF THE DAX1 GENE
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
[J]. 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
Habiby, RL
Boepple, P
Nachtigall, L
Sluss, PM
Crowley, WF
Jameson, JL
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (04) : 1055 - 1062
[10] KATSUMATA K, 1997, 79 ANN M END SOC JUN

← 1 2 3 →