THE INCIDENCE OF NONCLASSICAL 21-HYDROXYLASE DEFICIENCY IN HIRSUTE ADOLESCENT GIRLS

被引：13

作者：

AKINCI, A

YORDAM, N

ERSOY, F

ULUSAHIN, N

OGUZ, H

机构：

[1] Pediatric Endocrinology Unit, Dr Sami Ulus Children's Hospital, Ankara

[2] Pediatric Endocrinology Unit and Department of Immunology, Hacettepe University, Child Health Institute, Ankara

来源：

GYNECOLOGICAL ENDOCRINOLOGY | 1992年 / 6卷 / 02期

关键词：

NONCLASSICAL; 21-HYDROXYLASE DEFICIENCY; 17-ALPHA-HYDROXYPROGESTERONE; ACTH STIMULATION TEST; DEHYDROEPIANDROSTERONE SULFATE; ANDROSTENEDIONE; TESTOSTERONE; CORTISOL; HIRSUTISM;

D O I：

10.3109/09513599209046392

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Non-classical adrenal hyperplasia due to 21-hydroxylase enzyme deficiency (NC21OHD) causes hirsutism, acne and menstrual irregularities in women. Clinically, patients with NC21OHD may be indistinguishable from other hyperandrogenic women, as they all present with similar symptoms. An elevated response of cortisol precursors like 17-alpha-hydroxyprogesterone (17-OHP) to ACTH stimulation is a valuable diagnostic criteria. In this study, 32 hirsute adolescent girls, aged 13-19 years, underwent i.v. adrenocorticotrophic hormone (ACTH) (Synacthen(R) 0.25 mg) stimulation test. The results were compared with those of the controls. The plasma levels of 17-alpha-hydroxyprogesterone, cortisol, dehydroepiandrosterone sulphate (DHEA-S), androstenedione, testosterone, follicle stimulating hormone (FSH), luteinizing hormone (LH) and prolactin were established before, and 60 min after the infusion of ACTH to both patients and controls. Six patients demonstrated an increase in both the 17-alpha-hydroxyprogesterone levels and the 17-alpha-hydroxyprogesterone/cortisol ratio on ACTH stimulation, almost twice that of the mean +/- 2SD in the control group and ten times that in one patient. Six patients with abnormal elevation of 17-alpha-hydroxyprogesterone were considered heterozygotes for 21-hydroxylase enzyme deficiency, and one patient was presumed to have NC21OHD. Human leukocyte antigen (HLA) analysis supported these diagnoses. In this study, the incidence of NC21OHD in hirsute adolescent girls in our population was investigated, and NC21OHD was found in only one of 32 patients.

引用

页码：99 / 106

页数：8

共 34 条

[1]

Schwartz F.L., Flink E.B., Hirsutism: pathophysiology, clinical evaluation, treatment, Post. Grad. Med., 77, (1985)

[2]

Rittmaster R.S., Loriaux D.L., Hirsutism, Ann. Intern. Med., 165, (1987)

[3]

New M.I., White P.C., Pang S., Dupont B., Speiser P.W., The adrenal hyperplasias, The Metabolic Basis of Inherited Disease, 6th edn., 2, (1989)

[4]

Huges I.A., Congenital and acquired disorders of the adrenal cortex, Clin. Endocrinol. Metab., 11, (1982)

[5]

Lobo R.A., Goebelsmann U., Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease, Am. J. Obstet. Gynecol., 138, (1980)

[6]

Blankstein J., Faiman C., Reyes F.I., Et al., Adult-onset familial adrenal 21-hydroxylase deficiency, Am. J. Med., 68, (1980)

[7]

Speiser P.W., Dupont B., Rubinstein P., Piazza A., Kastelan A., New M.I., High frequency of nonclassical steroid 21-hydroxylase-deficiency, Am. J. Hum. Genet., 37, (1985)

[8]

Chrousos G.P., Loriaux D.L., Mann D.L., Gutler G.B., Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsuasm or polycystic ovarian disease, Ann. Intern. Med., 96, (1982)

[9]

Chetkowski R.J., DeFazio J., Shamonki I., Et al., The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women, J. Clin. Endocrinol. Metab., 58, (1984)

[10]

Morris D.V., Hirsutism, Clin. Obstet. Gynecol., 12, (1985)

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