Subnormal cortisol response to adrenocorticotropin in isolated partial 17,20-lyase deficiency.
We describe three male children from a Bedouin clan, two of whom are siblings, who have various degrees of incomplete virilization due to isolated 17,20-lyase deficiency. The patients have low (basal and post ACTH or hCG stimulation) plasma testosterone and androstenedione levels. An abnormally high plasma 17-hydroxyprogesterone concentration was detected. A favorable response following local testosterone administration was seen in two patients. Surprisingly, an unexplained flat cortisol response to ACTH test was also noted. Although no biochemical model can yet adequately explain the impairment in cortisol response to ACTH in these patients, it seems prudent to take this lack of cortisol response into consideration. We therefore recommend hydrocortisone supplement during moderate to severe stress.
Leiberman
E
E
Pediatric Endocrine Unit, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Hershkovitz
E
E
Lauber-Biason
A
A
Phillip
M
M
Zachmann
M
M
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D000735:Androstenedione / Q000097:blood; D018912:Arabs; D006063:Chorionic Gonadotropin; D003241:Consanguinity; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D006854:Hydrocortisone / Q000097:blood* / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010413:Penis / Q000473:pathology; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics; D013312:Stress, Physiological / Q000188:drug therapy; D013739:Testosterone / Q000097:blood / Q000627:therapeutic use
D006063:Chorionic Gonadotropin; D013739:Testosterone; D000735:Androstenedione; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D013254:Steroid 17-alpha-Hydroxylase; D006854:Hydrocortisone