Familial hypersecretion of adrenal androgens transmitted as a dominant, non-hla linked trait

Peter Lee, Claude J. Migeon, Wilma B. Bias, Georgeanna S. Jones

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Clinical evidence of adrenal androgen hyperfunction (premature pubarche, hirsutism, amenorrhea) occurred in the studied proband, her mother, maternal aunt (twin sisters), and maternal great-grandmother. The basal levels of androgen in the first three were variably elevated. In all the members of this family who were tested, the response of 17-hydroxyprogesterone and progesterone to adrenocorticotropic hormone stimulation was either normal or of the type seen in heterozygotes for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Of particular importance is the fact that neither the proband nor her mother or maternal aunt had the type of response seen in homozygotes presenting the attenuated form of congenital adrenal hyperplasia. The disorder appears to be a familial condition resulting in excessive levels of adrenal androgens beginning during childhood years, causing hirsutism and amenorrhea and interfering with normal pubertal and adult ovarian function. Glucocorticoid therapy suppresses adrenal androgen levels; in two individuals, conception occurred twice in each during such treatment in otherwise amenorrheic individuals. The pattern of transmission of the disorder appears to be either autosomal or X-linked dominant, and not linked to the homologous leucocytic antibodies (HLA) region of the sixth chromosome.

Original languageEnglish (US)
Pages (from-to)259-264
Number of pages6
JournalObstetrics and Gynecology
Volume69
Issue number2
StatePublished - 1987

Fingerprint

Mothers
Androgens
Hirsutism
Amenorrhea
17-alpha-Hydroxyprogesterone
Homozygote
Heterozygote
Adrenocorticotropic Hormone
Glucocorticoids
Progesterone
Siblings
Chromosomes
Familial hypersecretion of adrenal androgens
Antibodies
Therapeutics
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology

Cite this

Lee, Peter ; Migeon, Claude J. ; Bias, Wilma B. ; Jones, Georgeanna S. / Familial hypersecretion of adrenal androgens transmitted as a dominant, non-hla linked trait. In: Obstetrics and Gynecology. 1987 ; Vol. 69, No. 2. pp. 259-264.
@article{fa2f1ccb811b407bb6abef81085a1945,
title = "Familial hypersecretion of adrenal androgens transmitted as a dominant, non-hla linked trait",
abstract = "Clinical evidence of adrenal androgen hyperfunction (premature pubarche, hirsutism, amenorrhea) occurred in the studied proband, her mother, maternal aunt (twin sisters), and maternal great-grandmother. The basal levels of androgen in the first three were variably elevated. In all the members of this family who were tested, the response of 17-hydroxyprogesterone and progesterone to adrenocorticotropic hormone stimulation was either normal or of the type seen in heterozygotes for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Of particular importance is the fact that neither the proband nor her mother or maternal aunt had the type of response seen in homozygotes presenting the attenuated form of congenital adrenal hyperplasia. The disorder appears to be a familial condition resulting in excessive levels of adrenal androgens beginning during childhood years, causing hirsutism and amenorrhea and interfering with normal pubertal and adult ovarian function. Glucocorticoid therapy suppresses adrenal androgen levels; in two individuals, conception occurred twice in each during such treatment in otherwise amenorrheic individuals. The pattern of transmission of the disorder appears to be either autosomal or X-linked dominant, and not linked to the homologous leucocytic antibodies (HLA) region of the sixth chromosome.",
author = "Peter Lee and Migeon, {Claude J.} and Bias, {Wilma B.} and Jones, {Georgeanna S.}",
year = "1987",
language = "English (US)",
volume = "69",
pages = "259--264",
journal = "Obstetrics and Gynecology",
issn = "0029-7844",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

Familial hypersecretion of adrenal androgens transmitted as a dominant, non-hla linked trait. / Lee, Peter; Migeon, Claude J.; Bias, Wilma B.; Jones, Georgeanna S.

In: Obstetrics and Gynecology, Vol. 69, No. 2, 1987, p. 259-264.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Familial hypersecretion of adrenal androgens transmitted as a dominant, non-hla linked trait

AU - Lee, Peter

AU - Migeon, Claude J.

AU - Bias, Wilma B.

AU - Jones, Georgeanna S.

PY - 1987

Y1 - 1987

N2 - Clinical evidence of adrenal androgen hyperfunction (premature pubarche, hirsutism, amenorrhea) occurred in the studied proband, her mother, maternal aunt (twin sisters), and maternal great-grandmother. The basal levels of androgen in the first three were variably elevated. In all the members of this family who were tested, the response of 17-hydroxyprogesterone and progesterone to adrenocorticotropic hormone stimulation was either normal or of the type seen in heterozygotes for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Of particular importance is the fact that neither the proband nor her mother or maternal aunt had the type of response seen in homozygotes presenting the attenuated form of congenital adrenal hyperplasia. The disorder appears to be a familial condition resulting in excessive levels of adrenal androgens beginning during childhood years, causing hirsutism and amenorrhea and interfering with normal pubertal and adult ovarian function. Glucocorticoid therapy suppresses adrenal androgen levels; in two individuals, conception occurred twice in each during such treatment in otherwise amenorrheic individuals. The pattern of transmission of the disorder appears to be either autosomal or X-linked dominant, and not linked to the homologous leucocytic antibodies (HLA) region of the sixth chromosome.

AB - Clinical evidence of adrenal androgen hyperfunction (premature pubarche, hirsutism, amenorrhea) occurred in the studied proband, her mother, maternal aunt (twin sisters), and maternal great-grandmother. The basal levels of androgen in the first three were variably elevated. In all the members of this family who were tested, the response of 17-hydroxyprogesterone and progesterone to adrenocorticotropic hormone stimulation was either normal or of the type seen in heterozygotes for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Of particular importance is the fact that neither the proband nor her mother or maternal aunt had the type of response seen in homozygotes presenting the attenuated form of congenital adrenal hyperplasia. The disorder appears to be a familial condition resulting in excessive levels of adrenal androgens beginning during childhood years, causing hirsutism and amenorrhea and interfering with normal pubertal and adult ovarian function. Glucocorticoid therapy suppresses adrenal androgen levels; in two individuals, conception occurred twice in each during such treatment in otherwise amenorrheic individuals. The pattern of transmission of the disorder appears to be either autosomal or X-linked dominant, and not linked to the homologous leucocytic antibodies (HLA) region of the sixth chromosome.

UR - http://www.scopus.com/inward/record.url?scp=0023109899&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023109899&partnerID=8YFLogxK

M3 - Article

C2 - 3808511

AN - SCOPUS:0023109899

VL - 69

SP - 259

EP - 264

JO - Obstetrics and Gynecology

JF - Obstetrics and Gynecology

SN - 0029-7844

IS - 2

ER -