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Disorders of Sex Development (DSD) Center

Disorders of Sex Development (DSD) Treatment

Our team has the expertise to treat all types of disorders of sex development (DSD). Treatment options will vary based on the specific diagnosis and issues involved. Treatment and services may include:

  • Diagnostic evaluation, including examination, blood tests such as chromosome analysis and other genetic testing, and imaging (X-ray, ultrasound, MRI)
  • Psychosocial support
  • Genetic counseling
  • Medical management, including hormone treatment
  • Surgical procedures when indicated

Details

Medical management of patients with DSD may include hormone treatment, such as:

  • Hormone replacement − Indicated for patients who are unable to make or use their own hormones. Examples of replacement hormones include the life-sustaining hormones hydrocortisone and fludrocortisone for patients with congenital adrenal hyperplasia (CAH).  Estrogen and testosterone are used for development of secondary sex characteristics in females and males.
  • Hormone suppression − Indicated for patients who over-produce sex hormones

Routine follow-up appointments, blood work and serial imaging may also be a part of your child’s long-term medical treatment plan.

Not all disorders of sex development require surgical treatment.  However, when surgery is an appropriate treatment option, our expert gynecologists and urologists can provide surgical treatment with optimal functional and cosmetic outcomes.

A few examples of conditions where surgery may be indicated are congenital adrenal hyperplasia (CAH) and disorders of vaginal development.

We have the expertise to perform simple and complex surgical procedures, including:

Cystoscopy

A procedure to visualize the internal structure of the urinary bladder and lower urinary tract by means of a cystoscope (thin, flexible tube with a light and video camera attached).

Vaginoscopy

A procedure to visualize the vaginal canal by means of an endoscope (thin, flexible tube with a light and video camera attached) to assess length, diameter and patency.

Feminizing Genitoplasty / Genital Reconstruction

Surgery to normalize the appearance and function of the female external genitalia. Feminizing genitoplasty may incorporate one or all of the following procedures:

  • Clitoroplasty (clitoral reduction) to reduce the size of the clitoris, the structure that provides female sensation during intercourse
  • Vaginoplasty to achieve satisfactory cosmetic appearance and a vagina with enough depth to allow for intercourse. (This procedure depends on each patient’s anatomy.)
  • Labiaplasty to achieve satisfactory cosmetic appearance of the labia
  • Creation of a vagina using bowel or skin
  • Introitoplasty to sufficiently open the vaginal outlet to allow pain-free sexual intercourse

Masculinizing Genitoplasty / Genital Reconstruction

Surgery to improve the appearance and function of the male external genitalia.  Masculinizing genitoplasty may include:

  • Repair of penile chordee (curvature of the penis)
  • Hypospadias repair, a surgical repair of the penis, to bring the urethral opening to the tip of the penis. This allows a controlled stream of urine while standing, improves the appearance of the penis and diverts fertility issues later in life.  This repair may be completed in multiple stages.

Resources for Parents

Accord Alliance

Read and download “Clinical Guidelines for the Management of Disorders of Sex Development in Childhood” or the “Handbook for Parents.”

Book

Disorders of Sex Development: A Guide for Parents and Physicians (A Johns Hopkins Press Health Book). Information at Amazon.com.

Improving Care for Patients

Cincinnati Children’s is a member of the Disorders of Sex Development Translational Research Network, a national consortium of pediatric hospitals working to standardize care for patients across the country.

Learn More

Tara Schafer-Kalkhoff, MA, CCRP
Clinical Research Coordinator IV
Disorders of Sex Development Center at Cincinnati Children’s
tara.schafer-kalkhoff@cchmc.org