Etiologic Evaluation of Male Pseudohermaphroditism in Infancy and Childhood

Gary D. Berkovitz, Peter Lee, Terry R. Brown, Claude J. Migeon

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

We outlined a diagnostic scheme for use with prepubertal patients with male pseudohermaphroditism that included karyotyping, a genitourethrogram, a human chorionic gonadotropin stimulation test with plasma hormone level determinations, and determination of 5α-reductase activity and androgen receptor binding in genital skin fibroblasts. A thorough evaluation is warranted in all patients since the correct diagnosis may assist in determining gender assignment and providing appropriate genetic counseling. We studied 25 patients by the prescribed diagnostic scheme: seven of them had a partial gonadal dysgenesis, two were deficient in 5α-reductase activity, two showed partial androgen insensitivity, four had multiple congenital malformations, one had a Wilms' tumor, and nine were considered as having an idiopathic form of MPH.

Original languageEnglish (US)
Pages (from-to)755-759
Number of pages5
JournalAmerican Journal of Diseases of Children
Volume138
Issue number8
DOIs
StatePublished - Jan 1 1984

Fingerprint

XY Disorders of Sex Development 46
Oxidoreductases
Gonadal Dysgenesis
Androgen-Insensitivity Syndrome
Karyotyping
Wilms Tumor
Genetic Counseling
Androgen Receptors
Chorionic Gonadotropin
Fibroblasts
Hormones
Skin

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Berkovitz, Gary D. ; Lee, Peter ; Brown, Terry R. ; Migeon, Claude J. / Etiologic Evaluation of Male Pseudohermaphroditism in Infancy and Childhood. In: American Journal of Diseases of Children. 1984 ; Vol. 138, No. 8. pp. 755-759.
@article{d42134c639fb47598011a9742af20af5,
title = "Etiologic Evaluation of Male Pseudohermaphroditism in Infancy and Childhood",
abstract = "We outlined a diagnostic scheme for use with prepubertal patients with male pseudohermaphroditism that included karyotyping, a genitourethrogram, a human chorionic gonadotropin stimulation test with plasma hormone level determinations, and determination of 5α-reductase activity and androgen receptor binding in genital skin fibroblasts. A thorough evaluation is warranted in all patients since the correct diagnosis may assist in determining gender assignment and providing appropriate genetic counseling. We studied 25 patients by the prescribed diagnostic scheme: seven of them had a partial gonadal dysgenesis, two were deficient in 5α-reductase activity, two showed partial androgen insensitivity, four had multiple congenital malformations, one had a Wilms' tumor, and nine were considered as having an idiopathic form of MPH.",
author = "Berkovitz, {Gary D.} and Peter Lee and Brown, {Terry R.} and Migeon, {Claude J.}",
year = "1984",
month = "1",
day = "1",
doi = "10.1001/archpedi.1984.02140460047017",
language = "English (US)",
volume = "138",
pages = "755--759",
journal = "JAMA Pediatrics",
issn = "2168-6203",
publisher = "American Medical Association",
number = "8",

}

Etiologic Evaluation of Male Pseudohermaphroditism in Infancy and Childhood. / Berkovitz, Gary D.; Lee, Peter; Brown, Terry R.; Migeon, Claude J.

In: American Journal of Diseases of Children, Vol. 138, No. 8, 01.01.1984, p. 755-759.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Etiologic Evaluation of Male Pseudohermaphroditism in Infancy and Childhood

AU - Berkovitz, Gary D.

AU - Lee, Peter

AU - Brown, Terry R.

AU - Migeon, Claude J.

PY - 1984/1/1

Y1 - 1984/1/1

N2 - We outlined a diagnostic scheme for use with prepubertal patients with male pseudohermaphroditism that included karyotyping, a genitourethrogram, a human chorionic gonadotropin stimulation test with plasma hormone level determinations, and determination of 5α-reductase activity and androgen receptor binding in genital skin fibroblasts. A thorough evaluation is warranted in all patients since the correct diagnosis may assist in determining gender assignment and providing appropriate genetic counseling. We studied 25 patients by the prescribed diagnostic scheme: seven of them had a partial gonadal dysgenesis, two were deficient in 5α-reductase activity, two showed partial androgen insensitivity, four had multiple congenital malformations, one had a Wilms' tumor, and nine were considered as having an idiopathic form of MPH.

AB - We outlined a diagnostic scheme for use with prepubertal patients with male pseudohermaphroditism that included karyotyping, a genitourethrogram, a human chorionic gonadotropin stimulation test with plasma hormone level determinations, and determination of 5α-reductase activity and androgen receptor binding in genital skin fibroblasts. A thorough evaluation is warranted in all patients since the correct diagnosis may assist in determining gender assignment and providing appropriate genetic counseling. We studied 25 patients by the prescribed diagnostic scheme: seven of them had a partial gonadal dysgenesis, two were deficient in 5α-reductase activity, two showed partial androgen insensitivity, four had multiple congenital malformations, one had a Wilms' tumor, and nine were considered as having an idiopathic form of MPH.

UR - http://www.scopus.com/inward/record.url?scp=0021263018&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021263018&partnerID=8YFLogxK

U2 - 10.1001/archpedi.1984.02140460047017

DO - 10.1001/archpedi.1984.02140460047017

M3 - Article

C2 - 6331153

AN - SCOPUS:0021263018

VL - 138

SP - 755

EP - 759

JO - JAMA Pediatrics

JF - JAMA Pediatrics

SN - 2168-6203

IS - 8

ER -