Diagnosis and management of gestational hyperandrogenism
- Howard D McClamrock, MD
Howard D McClamrock, MD
- Clinical Associate Professor of Obstetrics and Gynecology
- University of Maryland School of Medicine
- Section Editors
- Robert L Barbieri, MD
Robert L Barbieri, MD
- Editor-in-Chief — Obstetrics, Gynecology and Women's Health
- Section Editor — General Gynecology and Female Reproductive Endocrinology
- Kate Macy Ladd Professor of Obstetrics, Gynecology and Reproductive Biology
- Harvard Medical School
- William F Crowley, Jr, MD
William F Crowley, Jr, MD
- Section Editor — Female Reproductive Endocrinology
- Daniel K Podolsky Professor of Medicine
- Harvard Medical School
Hyperandrogenism in pregnant women may cause hirsutism and virilization in the woman and virilization of female fetuses. The major causes of gestational hyperandrogenism and some of their clinical characteristics are shown in the tables (table 1 and table 2). These disorders are discussed in detail elsewhere (see "Causes of gestational hyperandrogenism"). This topic will review the clinical manifestations, diagnosis, and treatment of hyperandrogenism in pregnant women.
SYMPTOMS AND SIGNS
The possibility of androgen excess usually arises when a pregnant woman presents with the rapid onset of masculinization. Affected women may have a variety of symptoms including hirsutism (at times requiring shaving), acne, temporal balding, clitoromegaly, and deepening of the voice.
There may also be a palpable abdominal mass due to a tumor or cyst. Causes of the masses include luteomas, theca-lutein cysts, other ovarian tumors, and adrenal tumors. No masses would be expected when the etiology is exposure to exogenous hormones or placental aromatase deficiency. (See "Causes of gestational hyperandrogenism".)
At other times, gestational hyperandrogenism is first suspected at the time of delivery of a virilized female infant. If the investigation begins after delivery, one must keep in mind that luteomas and theca-lutein cysts undergo spontaneous regression after delivery.
When evaluating a woman with gestational hyperandrogenism, the possibility that a masculinizing lesion may be malignant is sufficient to warrant a thorough evaluation (algorithm 1) [1,2]. Examples of malignant tumors associated with gestational hyperandrogenism include Sertoli-Leydig cell tumors, granulosa-theca cell tumors, Krukenberg tumors, ovarian mucinous cystadenocarcinomas, and adrenocortical carcinomas. Although very rare in pregnancy, Cushing's syndrome should also be considered.
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- McClamrock HD, Adashi EY. Gestational hyperandrogenism. In: Reproductive Endocrinology, Surgery, and Technology, Adashi EY, Rock JA, Rosenwaks Z (Eds), Lippincott-Raven, Philadelphia 1996. p.1612.
- Chen CH, Chen IC, Wang YC, et al. Boy born after gender preselection following successive gestational androgen excess of maternal luteoma and female disorders of sex development. Fertil Steril 2009; 91:2732.e5.
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- Lo YM, Patel P, Wainscoat JS, et al. Prenatal sex determination by DNA amplification from maternal peripheral blood. Lancet 1989; 2:1363.
- Bianchi DW, Simpson JL, Jackson LG, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn 2002; 22:609.
- Johnson KL, Dukes KA, Vidaver J, et al. Interlaboratory comparison of fetal male DNA detection from common maternal plasma samples by real-time PCR. Clin Chem 2004; 50:516.
- Jorgez CJ, Dang DD, Wapner R, et al. Elevated levels of total (maternal and fetal) beta-globin DNA in maternal blood from first trimester pregnancies with trisomy 21. Hum Reprod 2007; 22:2267.
- Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011; 306:627.
- SYMPTOMS AND SIGNS
- DIAGNOSTIC APPROACH
- Hormone determinations
- Percutaneous umbilical blood sampling
- Cell-free fetal DNA
- PROGNOSIS AND THERAPY
- Gestational ovarian theca-lutein cysts
- Other tumors
- Exogenous hormone therapy
- Placental aromatase deficiency
- SUMMARY AND RECOMMENDATIONS