Improving the Diagnosis and Management of Disorders of Sex Development

Toward a Continuum of Care

Clinicians are recognizing that patients with DSD need lifelong multidisciplinary care from pediatric endocrinologists, urologists, gynecologists, psychologists, nurses, social workers, geneticists, and medical ethicists.² Adults with DSD will require periodic monitoring for bone mineral density, and in patientswith gonadal dysgenesis, surveillance of germ cell cancer.² Congenital disorders may also affect other organs, including the heart and kidneys.²

Autoimmune disorders such as type 1 diabetes and thyroid disease are prevalent in patients with sex chromosome DSD.² In women with 46,XX DSD, metabolic disturbances such as obesity and insulin resistance are common.² Psychiatric disorders frequently occur in men and women with DSD, including anxiety and substance abuse.²

Recognizing the lifelong needs of patients with DSD, experts revisited the consensus statement on the diagnosis and management of children and adults with DSD to foster the following goals:

● Reduce psychosocial and physical risk

● Preserve fertility potential

● Maintain individual patient’s rights

● Avoid irreversible surgery until patient can consent

● Offer psychosocial support

● Support healthy sexual and gender identity

● Implement shared decision making for patients and parents

● Respect parent-child relationships

● Educate patients with age-appropriate information.⁴

Routine Newborn Testing Key to Earlier Treatment

In countries with less robust pediatric endocrine networks, patients are often diagnosed with DSD at later developmental stages.⁵ Such was the case in a study of 41 patients who presented with suspected DSD to a tertiary care center in India.⁵ The patients ranged in age from neonates to 16 years; mean age at presentation was 7.25 years.⁵ The most prevalent DSD was congenital adrenal hyperplasia (CAH), which occurred in 51% of the children.⁵

“As congenital adrenal hyperplasia was the most common and easily treatable cause of DSD in our study, we advised the introduction of 17-OHP estimation in early newborn screening in the country,” said co-investigator Mudasir Nazir, MD, a neonatologist from the Sher-i-Kashmir Institute of Medical Sciences in Srinagar, Jammu and Kashmir, India.