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.