development is a complex process that typically leaves a baby girl with two X chromosomes,
and a baby boy with an X and a Y. Sex chromosomes are a major driver of
gender-specific genitalia, hormones, and developmental timelines.
Few conditions underscore the importance of bedside manner quite like
differences and disorders of sex development (DSD). Doctors faced with
DSD patients must collaborate to recommend tailored and timely
management plans covering medical, psychological, and social cofactors
of the most intimate nature.
‘The varied causes of disorders of sex development (DSD), complete with clinical vignettes and appropriate management plans have been assembled by researchers.’
Standards of care are ever evolving, but
now front-line pediatricians from Case Western Reserve University School
of Medicine have assembled the latest data about the varied causes of
DSD, complete with clinical vignettes and appropriate management plans.
Their comprehensive review was included in a special issue of Birth Defects Research Part C: Embryo Today
The review's lead author is Naveen Uli, associate professor of
pediatrics at Case Western Reserve University School of Medicine. "Our
aim was to provide an overview of the complexity of the medical
decisions, investigations, and treatment approaches involved in the
diagnosis and management of this spectrum of disorders," said Uli. "We
wanted to highlight a variety of disorders, as well as presentation
during the newborn period, and later."
In the review, researchers outline the complex process of sex
development. But as
Uli explains, an abnormal number of sex chromosomes can have
consequences that are not immediately apparent.
"DSD comprise a wide range of molecular etiologies, with great
variation in presentation," said Uli. "Diagnosis in individuals may
occur any time from the newborn period to adulthood."
Management plans for DSD can require very stressful, life-altering
decisions, including gender assignment. In one case study in the review,
a baby born with ambiguous genitalia completes many rounds of testing
before a DSD is identified. Although the baby leaves the hospital after
birth without a gender, doctors work with the family to follow up with
hormone therapy and reparative surgery before he reaches one year old.
An included discussion offers support for medical professionals faced
with similar situations. The authors provide strategies to balance
proper psychological development, clinical findings, and family concerns - all within in a tight timeline.
Said Uli, "These conditions have wide ranging implications on health,
behavior, psychosocial function, family dynamics, and society as a
whole. Appropriate recognition is key to optimizing evaluation,
intervention, and outcomes."
Diagnostic tools have evolved substantially for DSD over the past
decade, lowering costs and testing turn-around times. According to Uli,
as molecular diagnostic technology advances, the science underlying DSD
will become more precise which will inform treatment plans. Until then,
the review article offers a comprehensive resource for doctors
navigating these changes to treat the spectrum of individuals living