CAH Fertility and Health Sequelae

Androgen excess disorders in female youth are causally linked to anovulation and infertility in adult women. The most common etiologies are Polycystic Ovarian Syndrome (PCOS) and Congenital Adrenal Hyperplasia (CAH), respectively reflecting the ovarian and adrenal origins of androgen excess. Functional Ovarian Hyperandrogenism (FOH) is the ovarian androgenic precursor that under1ies the majority of adolescent PCOS, frequently persisting into adulthood. By contrast, far less is known about direct and/or indirect effects of adrenal-derived androgen excess on ovarian function in females with CAH, further confounded by the considerable phenotypic over1ap between CAH and PCOS. Adult women with CAH (classical and non-classical) frequently demonstrate ultrasonographic evidence of cystic ovarian morphology,and women with non-classical CAH (NCAH) are known to exhibit increased ovarian area. Irregular menses are also prevalent in women with both types of CAH, due to the effects of excess androgen on the hypothalamic-pituitary-ovarian axis, and high progesterone levels. However, ovarian function in late adolescent and young adult women must be considered relative both to time of CAH diagnosis (e.g., neonatal vs childhood/adolescence) as well as the duration of treatment with androgen-suppressive glucocorticoid. We are therefore interested in studying the extent of ovarian dysfunction and menstrual irregularity in older adolescents and young adults with CAH. We will study retrospective data in 25 NCAH females of gynecological age = 2 post-menarchal years, examining medical records for menstrual history, 17-hydroxyprogesterone, androstenedione, and testosterone at the time of a clinic visit. We will document skeletal advancement = 2 S.D. as a clinical surrogate of significant androgen exposure. We will stratify NCAH subgroups based on timing of clinical presentation (pre- vs. post-pubertal), treated vs. untreated, and degree of androgen exposure, to then correlate with ovarian performance. We will also subgroup based on 2nd-to-4th digit ratios (2D:4D) as an index of prenatal androgen exposure.

We will evaluate similar outcome measures in 25 classical CAH females: bone age, 2D:4D, Prader score, neonatal anogenital ratio and clitoral index, and genotype. Our long-term goal is to extend preliminary findings to a prospective study of reproductive function in classical and non-classical CAH, utilizing more sophisticated markers including pelvic ultrasonography (follicular size, ovarian volume), and blood and urine analytes (e.g., AMH). These findings could impact clinical care of patients across the spectrum of androgen excess disorders.

You may be eligible for this study if you meet the following criteria:

• Conditions: polycystic ovarian syndrome,congenital adrenal hyperplasia
• Age: 100 years or below
• Gender: All