Center for Congenital Adrenal Hyperplasia (CAH) and Disorders of Sex Development (DSD)

The Center for Congenital Adrenal Hyperplasia (CAH) and Disorders of Sex Development (DSD), is a multidisciplinary clinical care and research facility that is built upon a unique collaboration between healthcare professionals at the M Health Fairview Masonic Children's Hospital and the Minnesota Department of Health Newborn Screening program (MDH-NBS). 

Clinical research participation opportunities are available to eligible subjects for new monitoring and treatment modalities. The Center also serves as a resource for educational materials geared toward patients, parents and primary care providers.

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Conditions We Treat

The Center addresses the varied and long-term spectrum of clinical needs for patients with CAH and other rare disorders of sex development:

  • Congenital Adrenal Hyperplasia
  • Turner Syndrome
  • Ambiguous Genitalia
  • 5-Reductase Deficiency
  • Androgen Insensitivity Syndrome
  • Gonadal Dysgenesis
  • Kallmann Syndrome
  • Klinefelter Syndrome
  • Leydig Cell Hypoplasia
  • Mayer, Rokitansky, Kuster, Hauser Syndrome
  • Ovotesticular DSD
  • Persistent Müllerian Duct Syndrome
  • Sex-Chromosome Mosaicism
  • Ovarian Failure
  • Hypospadius
  • Testosterone Synthesis Defects
  • XX Testicular DSD

Visit Details

A typical visit may include one-on-one consultations with the following specialists:

  • Pediatric Endocrinologist/Geneticist for evaluation/diagnosis of disorder; monitoring of disease control, growth, puberty, and other concerns; treatment options; and provide medical information about the disorder.
  • Genetic Counselor who will obtain the family pedigree; provide genetic counseling; facilitate the collection of DNA testing; make plans to review and discuss the results at the next visit.
  • Psychologist who specializes in disorders of sex development to assess the patient's and family's ability to cope with issues associated with the various disorders (which may include delayed puberty; gender issues; options for medical and surgical treatment).
  • OB-GYN for evaluation, monitoring and treatment, if necessary.
  • Nurse Practitioner who will explain and initiate the Emergency Medical Plan (including web based plan for physicians at other hospitals in case of emergency); provide additional material about the disorder and discuss any other concerns the patient or parent may have.
  • Pediatric Urology Surgeon, if surgery is being considered.
    The patient and family meet with the team to review findings and recommendations. Ask questions and make a plan for follow-up.

Two weeks later:

  • The patient and family receive a comprehensive clinic report, which includes recommendations of all of the specialists and health care professionals who saw the patient and family at the center.