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About disorders of sexual development (DSD)

DSD is a broad term that covers many conditions that reflect variations and irregularities in human sexual development, including problems recognized at birth in which the genitalia are abnormal in relation to the chromosomes or the primary reproductive organs of the infant (in some cases referred to as ambiguous genitalia).

Our approach

Our Pediatric Urogenital Reproductive Endocrine Disorders (PURE) Program is a highly specialized team of dedicated physicians, surgeons and health professionals committed to excellence in the diagnosis and care of patients with DSD. Our team members have combined decades of experience and are experts at handling the sensitive nature of these conditions, providing comprehensive, effective and compassionate care.

The PURE team offers individualized treatment programs, reaching across specializations to address the interrelated medical, surgical, psychological and social needs of the patients and their families. Our team is composed of pediatric endocrinologists, pediatric surgeons, pediatric gynecologists, pediatric urologists, geneticists, child and adolescent psychiatrists and social workers—all committed to the long-term health and well-being of your child.

Due to the complexity of sexual development, medical care is initiated in the neonatal period or at the time of initial diagnosis and continues through puberty, adolescence and into adulthood. Pubertal development, sexual function, fertility and reproductive health are all addressed.


Neonatal diagnosis

The neonatal diagnostic team is on call 24 hours a day to assist with neonatal diagnosis and treatment for children born with ambiguous genitalia. For more information, call (516) 472-3750.

Pediatric pelvic reconstruction surgery

The Pediatric Urogenital Reconstructive Pelvic Surgery (PURPoSe) Program combines the highly specialized skills of pediatric gynecology, pediatric urology and pediatric colorectal surgery to provide minimally invasive diagnostic and treatment approaches to DSD and other congenital malformations of the pelvis, such as:

  • Cystoscopy/vaginoscopy
  • Vaginoplasty
  • Introitoplasty
  • Clitoroplasty
  • Mobilization of persistent urogenital sinus
  • Gonadectomy
  • Laparoscopic reconstruction
  • Posterior sagital approaches

Vaginal dilation program

We offer a noninvasive approach to treatment for vaginal agenesis or vagina atresia in a structured and nurturing environment where proper technique is emphasized and social support is provided. For more information, call (516) 466-6953.

Gynecological care

Care for our young female patients is performed in a positive, supportive, healing environment with an interdisciplinary team approach. Gynecological problems in the pediatric and adolescent population are unique to this age group and require different physician skills than those used in adults. In addition to DSD, gynecologic specialists from our PURE team treat:

  • Cloacal malformations
  • Congenital adrenal hyperplasia
  • Gonadal dysgenesis
  • Vaginal agenesis
  • 46, XX testicular disorder of sexual development
  • 5 alpha reductase deficiency
  • Androgen insensitivity

Support groups

The PURE program places a strong emphasis on connecting patients and their families with the latest resources and support networks available. Support groups enable patients to connect with their peers and communicate their concerns on sexuality, body image and reproduction in a safe environment with a professional group facilitator. We also offer guest speakers, patient testimonials and mentoring for patients with new diagnoses. For more information, call (516) 572-3726.