Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Abstract

Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], P < .001), shorter vaginal length (121 mm [100–155] versus 128 [112–153], P = .12), lower uterine volumes (29.1 ml [7.5–56.7] versus 47.4 [15.9–177.5], P = .009), and higher ovarian volumes (4.4 ml [1.3–10.8] versus 2.8 [0.6–10.8], P = .09) than controls. Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (rs = ≤−0.39, P ≤ .05). More patients had never had intercourse (P = .001), and age at 1st intercourse was higher (18 yrs versus 16 yrs, P = .02). Conclusion. Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients.

Management framework paradigms for disorders of sex development

“…Extensive research on hormonal influences started appearing as important determinants of gender behavior and identity in patients with DSD (21)(22)(23)(24)(25)(26)(27)(28)(29), as well as reviews of long-term consequences for patients treated under the previously presented regimen, showing that many of them were not satisfied with their treatment or their assigned sex (30)(31)(32)(33)(34)(35)(36)(37)(38). Until then, the policy used to justify the designation of a child as being a female was based on the technical limitations of the surgery, that is, on the belief that it was "easier" to construct a vagina than a penis.…”

“…The child's wellbeing and love should guide the treatment conducts, so that in the future the parents can tell their children why they made those decisions. This way, the partnership among teams and families should be the closest possible, bearing in mind that all of them are tending a central aspect of the child's personality -the development of sexuality and gender identity (12,18,34,48,(58)(59)(60)(61).…”

Expression of estrogen and androgen receptors in tissues of external genitalia of girls with congenital adrenal hyperplasia

“…Доста-точно большой процент пациенток после интроито-пластики (несмотря на хороший косметический ре-зультат) имеют узкий для возможности полового акта диаметр влагалища, что связано с рубцеванием постоперационной поверхности, приводящим к стенозу. Это осложнение встречается чаще ( в 36-100% случаев) после одноэтапной пластики в ран-нем детском возрасте [3,[7][8][9]. Неудовлетворитель-ные результаты интроитопластики требуют повтор-ных оперативных вмешательств или многократных бужирований [9,10].…”

Risk factors of impaired fertility in the patients presenting with congenital adrenal cortical hyperplasia

“…Гипоэстрогенемия в период пубертата проявля-ется уменьшением размеров матки [35,36]. Недо-статочное развитие матки может способствовать низкой фертильности у женщин с ВДКН [12,13], а также объяснять высокую распространенность у них выкидышей и преждевременных родов.…”

“…Недо-статочное развитие матки может способствовать низкой фертильности у женщин с ВДКН [12,13], а также объяснять высокую распространенность у них выкидышей и преждевременных родов. Интересно, что размеры матки у женщин с этим заболеванием остаются меньше популяционной нормы даже по-сле нормально протекавшей беременности и родов [35]. Причиной таких изменений может быть дисба-ланс андрогенов и эстрогенов в период полового со-зревания.…”