An attenuated form of congenital virilizing adrenal hyperplasia. 1979

Z Rosenwaks, and P A Lee, and G S Jones, and C J Migeon, and A C Wentz

The families of two patients with hirsutism and oligomenorrhea were studied with iv ACTH (Cortrosyn) stimulation. The parents responded with a combined incremental rise of progesterone and 17-hydroxyprogesterone greater than 6.5 ng/dl.min, a response seen in the heterozygote parents of patients with congenital virilizing adrenal hyperplasia (CVAH). One sibling in one family responded as do heterozygous subjects, while two other siblings responded normally. The abnormal response of the two pairs of parents and the sibling along with the pattern of steroid secretion observed in the propositi suggest that the so-called adult-onset CVAH is a mild form of the homozygous state of CVAH.

UI MeSH Term Description Entries
D008297 Male Males
D009839 Oligomenorrhea Abnormally infrequent menstruation. Oligomenorrheas
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011374 Progesterone The major progestational steroid that is secreted primarily by the CORPUS LUTEUM and the PLACENTA. Progesterone acts on the UTERUS, the MAMMARY GLANDS and the BRAIN. It is required in EMBRYO IMPLANTATION; PREGNANCY maintenance, and the development of mammary tissue for MILK production. Progesterone, converted from PREGNENOLONE, also serves as an intermediate in the biosynthesis of GONADAL STEROID HORMONES and adrenal CORTICOSTEROIDS. Pregnenedione,Progesterone, (13 alpha,17 alpha)-(+-)-Isomer,Progesterone, (17 alpha)-Isomer,Progesterone, (9 beta,10 alpha)-Isomer
D003348 Cortisone A naturally occurring glucocorticoid that has been used in replacement therapy for ADRENAL INSUFFICIENCY and as an anti-inflammatory agent. Cortisone itself is inactive; it is converted in the liver to the active metabolite HYDROCORTISONE. (From Martindale, The Extra Pharmacopoeia, 30th ed, p726) 17-Hydroxy-3,11,20-trioxopregn-4-en-21-yl acetate,Adreson,Cortisone Acetate,Cortone Acetate
D005260 Female Females
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006908 Hydroxyprogesterones Metabolites or derivatives of PROGESTERONE with hydroxyl group substitution at various sites.
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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