About our service
Our Pediatric Urogenital Reproductive Endocrine (PURE) Disorders Program is a highly specialized team of dedicated physicians, surgeons and health professionals committed to excellence in the diagnosis and care of patients with disorders of sexual development (DSD). Our team members have decades of experience and are accomplished in handling the sensitive nature of such conditions, providing comprehensive, effective and compassionate care.
A multidisciplinary, long-term approach
Pediatric patients and young adults exhibiting differences in their sexual development can greatly benefit from our multidisciplinary program team, composed of endocrinology, genetics, gynecology, urology, psychiatry and surgical services. Along with a licensed social worker, the PURE Program addresses the distinctive medical, psychological and social needs of patients and their families in a nurturing environment.
Starting at the prenatal (or neonatal) period, or at the time of initial diagnosis, PURE delivers long-term medical care through puberty, adolescence and young adulthood. Pubertal development, sexual functioning, fertility and reproduction are all addressed.
A world-renowned network
As part of Cohen Children’s Medical Center Northwell Health Physician Partners, our team operates proudly within the framework of one of the largest health systems in the country. Cohen Children’s Medical Center is part of the Disorders of Sex Development Translational Research Network (DSD-TRN), a National Institutes of Health-supported group of medical centers working to educate about DSD and provide both sensible and sensitive care for patients with such diagnoses.
Philosophy & ethical stance
Our physicians have led the way in advocating for individualized treatment with input from a variety of highly experienced clinicians. This includes soliciting opinions from mental health professionals and ethicists to validate the plan of care and ensure we adhere to established practice guidelines.
Our team works closely with families to provide exceptional clinical care that respects the dignity and individuality of our patients. We serve local, national and international families to provide:
- Initial diagnosis and assessment
- Comprehensive, interdisciplinary care, with specialists remaining in close communication when devising treatment plans
- Personalized medical, psychosocial and/or surgical treatment, and support services
- Coordination of care (referrals, appointments, tests, treatment) in a single, convenient setting
- Education and empowerment of patients and families to receive the best holistic care possible with optimal short- and long-term outcomes
- Referral to family support groups
- Congenital adrenal hyperplasia and related steroidogenic disorders
- 5-alpha reductase deficiency
- Gonadal dysgenesis (complete or partial)
- Disorders resulting from abnormal number or appearance of X and Y sex chromosomes, including Klinefelter syndrome
- Androgen insensitivity (complete or partial, CAIS or PAIS)
- Malformation of the vagina, cervix and uterus
- Malformation of the penis, scrotum, testicles
- DSD associated with other chromosomal anomalies
Treatment options will vary based on each patient’s specific diagnosis. Treatment and services may include:
- Psychosocial support throughout the treatment period
- Diagnostic evaluation (including examination), specialized hormone blood tests, detailed chromosome analysis, and imaging (X-ray, ultrasound, MRI)
- Family-oriented discussion with all specialists of treatment options
- Genetic counseling
- Medical management as indicated, including hormone treatment
- Surgical procedures when indicated