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LATE ONSET ADRENAL HYPERPLASIA IN A GROUP OF IRISH FEMALES WHO PRESENTED WITH HIRSUTISM, IRREGULAR MENSES AND/OR CYSTIC ACNE
Author(s) -
MCLAUGHLIN B.,
BARRETT P.,
FINCH T.,
DEVLIN J. G.
Publication year - 1990
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1990.tb03750.x
Subject(s) - hirsutism , hyperandrogenism , acne , congenital adrenal hyperplasia , medicine , endocrinology , menstrual cycle , androstenedione , blood sampling , polycystic ovary , hormone , androgen , insulin resistance , insulin , dermatology
SUMMARY The aims of this study were to determine the frequency of late‐onset adrenal hyperplasia due specifically to 21‐hydroxylase deficiency in a group of Irish women who presented at a Dublin Clinic with symptoms of hyperandrogenism, including hirsutism, menstrual irregularities and/or cystic acne, and to determine if those with 21‐hydroxylase deficiency showed particular HLA associations. 119 women had blood samples taken basally and 1 h after an injection of 0.25 mg synacthen with the following hormones profiled: 17‐hydroxyprogester‐one, 11‐deoxycortisol, androstenedione, testosterone, DHEAS and Cortisol. Blood sampling was carried out between 0900 and 1000 h during the early follicular phase of the menstrual cycle (when applicable). Ninety‐six subjects were new referrals to the Clinic for investigation of hyperandrogenism and 23 were acting as controls. In this study, 6% of patients showed evidence of partial 21‐hydroxylase deficiency. In addition, 3 of the 6 with partial 21‐hydroxylase deficiency had normal baseline levels of 17‐hydroxyprogesterone, with the biochemical abnormality becoming manifest only on synacthen stimulation. Late‐onset adrenal hyperplasia due to partial deficiency of this enzyme should always be considered as a possible diagnosis in women who present with symptoms of hyperandrogenism. Synacthen stimulation is an important diagnostic tool in elucidating partial enzyme deficiency as baseline 17‐hydroxyprogesterone may be normal in such patients.