ABSTRACT Objective The aim of this study was to evaluate the efficacy of a self-assessment questionnaire for hirsutism using the latest cutoff values recommended by the Endocrine Society (ES) for Latin-American women and by the European Society for Human Reproduction and Embryology (ESHRE). Subject and methods Female premenopausal outpatients (n = 188) completed a self-assessment questionnaire, scoring hair presence across the nine areas evaluated by the modified Ferriman-Gallwey (mFG) scale. The results were compared with clinician-assessed scores rated independently by […]

ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone CYP21A2 molecular analysis. Subjects and methods: Retrospectively, we have analyzed the clinical records of […]

OBJECTIVE: This study sought to examine corticosteroidogenic enzyme activities in normo- and hyperandrogenic polycystic ovary syndrome (PCOS) patients. SUBJECTS AND METHODS: This cohort study included 81 patients with biochemical hyperandrogenism and 41 patients with normal androgen levels. Enzyme activities were assessed according to the serum steroid product/precursor ratios at baseline and after adrenal stimulation. RESULTS: At baseline, in the delta 4 (?4) pathway, hyperandrogenic patients showed greater 17-hydroxylase and 17,20 lyase activities in converting progesterone (P4) into 17-hydroxyprogesterone (17-OHP4) and […]

Polycystic ovarian syndrome (PCOS) is a lifelong disorder characterized by hyperandrogenism and ovulatory dysfunction, with a wide spectrum of clinical symptoms and signs. Three different sets of diagnostic criteria have been established in order to define this disease in adult women, but there is controversy regarding the use of these criteria in adolescence. During puberty, the adult criteria for ovulatory dysfunction does not seem applicable, because an irregular menstrual pattern and a decreased ovulatory rate is a physiologic event during […]

Screening for non-classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is performed with baseline 17-hydroxyprogesterone (17OHPb) and confirmed with the ACTH test. Because the cutoff level of 17OHPb that prompts an ACTH testing is still a matter of discussion, we evaluated the levels of 17OHPb in diagnosing CAH caused by 21OHD. An ACTH (0.25 mg IV) test was performed in 87 hyperandrogenic women, 24.8±0.8 years old. 17OHP levels greater than 1,500 ng/dL, 60min after administration of ACTH were […]

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. PCOS is a heterogeneous clinical condition, characterized by hirsutism, acne and/or androgenetic alopecia, irregular menstrual cycles and infertility. Moreover, a considerable percentage of PCOS women present insulin resistance, in particular those with obesity. The pathogenesis of the syndrome is still unclear, but neuroendocrine mechanisms have been studied in the last years. Although an inappropriate GnRH/LH secretion is well established, some obese and hyperinsulinemic women with […]