Disorders of Sexual Development in Adult Women

Abstract

Disorders (differences) of sexual development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity and Turner syndrome. Obstetrician–gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine and anatomical considerations of the most common conditions in order to provide optimal care. As women with these conditions transition to adult care, the gynecologist needs to assess the patient's understanding and educate her regarding her diagnosis and ongoing medical care. All of these conditions may affect self-perception, mental health, fertility, sexual function, and bone and cardiovascular health. Women with congenital adrenal hyperplasia need lifelong endocrine management and require genetic counseling prior to pregnancy. Women with androgen insensitivity syndrome require counseling regarding gonadectomy and hormone replacement therapy, and may require vaginal elongation for intercourse. Most women with Turner syndrome experience premature ovarian insufficiency and require long-term estrogen replacement. Women with Turner syndrome often have congenital anomalies and autoimmune disorders which require regular monitoring and care during adulthood. The purpose of this review is to provide the obstetrician gynecologist who cares for adult women with the most common DSD conditions an outline of the current recommendations for screening and ongoing health care, with particular emphasis on the underlying genetics, management of subfertility, infertility and sexual concerns, approach to hypogonadism, and understanding of associated comorbidities.

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

“…Besides obvious hyperplasia of the adrenal cortex, imaging exams did detect neither the female (uterus, the ovaries, and the Fallopian tubes) nor the male (prostate, seminal vesicles, and vas deferens) genitalia. This picture confirms that both the 17-hydroxylase and the 17,20-lyase activity are essential for gonadal steroidogenesis [ 21 ].…”

Challenges and Opportunities in Adolescent Gynecology Patients with Surgically-Treated Congenital and Acquired Anomalies: Transition of Care from Pediatric to Adult Surgery

“…The transition of care of these patients will encompass a multistep process. One of the first steps in preparation for 19,22 There is no evidenced-based information regarding how to transition patients with reproductive issues. However, on the basis of the American Academy of Pediatrics general recommendations for transition of care in the context of chronic illness, 13,14 Hullman et al 10 suggests a strategy for transitioning cognitively normal DSD patients from pediatric to adult providers that involves a sequential process beginning at ages 12-13 years and concluding between the ages of 18-21 years.…”

Isochromosome Mosaic Turner Syndrome: A Case Report

“…However, patients must be counseled that deaths may occur with pregnancies due to the cardiovascular complications such as aortic dissection. 23 …”