Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test.
Heterozygosity for 21-hydroxylase deficiency (21-OHD) was investigated in 174 adult hirsute women by using the sum of the incremental responses of serum 17 alpha-hydroxyprogesterone (17 alpha-OHP) and progesterone (P) (delta 17 alpha-OHP + P), 60 minutes after a 0.25 mg intravenous (IV) bolus of synthetic adrenocorticotropic hormone (ACTH). The distribution of 17 alpha-OHP + P in hirsute women was bimodal, allowing two subgroups to be distinguished. In one subgroup including 137 patients, the mode was similar to controls and all values were lower than 3 ng/ml. Thirty-seven (21%) patients constituted another subgroup with values higher than 3 ng/ml and could a priori have been considered as heterozygotes for 21-OHD. However, human leukocyte antigen genotyping provided no conclusive evidence that this subgroup included exclusively heterozygotes for the 21-OHD.
Dewailly
D
D
Service d'Endocrinologie et de Diabétologie, Centre Hospitalier Regional de Lille, France.
Vantyghem
M C
MC
Lemaire
C
C
Dufosse
F
F
Racadot
A
A
Fossati
P
P
D019326:17-alpha-Hydroxyprogesterone; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D000328:Adult; D000735:Androstenedione / Q000097:blood; D003687:Dehydroepiandrosterone / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening; D006680:HLA Antigens / Q000235:genetics; D006628:Hirsutism / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D008875:Middle Aged; D011374:Progesterone / Q000097:blood; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013739:Testosterone / Q000097:blood
D006680:HLA Antigens; D006908:Hydroxyprogesterones; D013739:Testosterone; D000735:Androstenedione; D003687:Dehydroepiandrosterone; D011374:Progesterone; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase