From
StayCurrentMD
Disorders of Sexual Develpment with Dr. Kathy Graziano
With Dr. Kathy Graziano · hosted by Dr. Todd Ponsky
Chapter 1 of 10 · Fundamentals
DSD overview
Introduction and Overview of Disorders of Sexual Development
Expert statements on this page
No expert statements were drawn from this page.
Host summaries · secondary, not cited in answers
Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
Video
Intestinal Atresia Types Explained: Grossfeld Classification for Pediatric Surgery
1 min · Published Sep 2026
Video
Derivation and validation of the Pediatric Community-Acquired Pneumonia Severity (PedCAPS) score: A prospective cohort study
50 s · Published Sep 2026
Video
FETO for Late-Diagnosed Severe Congenital Diaphragmatic Hernia (CDH) at Cincinnati Children's with Dr. Beth Rymeski
4 min · Published Sep 2026
Video
Severe Congenital Diaphragmatic Hernia (CDH) Case: FETO Management & Unexpected Findings with Dr. Beth Rymeski
3 min · Published Sep 2026
Video
Fetoscopic Endoluminal Tracheal Occlusion (FETO) Procedure: Step-by-Step Guide with Dr. Beth Rymeski
4 min · Published Sep 2026
Video
Choledochal Cyst Types Explained: Pediatric Surgery Fundamentals
1 min · Published Sep 2026
What the experts said
DSD is an umbrella term developed by endocrine experts in 2005 to replace older terms like hermaphrodite and intersex
Congenital adrenal hyperplasia occurs in 1 in 16,000 children
Current practice is to have endocrinology and genetics see newborns with ambiguous genitalia first, before surgeons, to guide the workup
Asymmetrical genitalia in a newborn suggests mixed gonadal dysgenesis or complicated chromosomes
Rectal examination to feel for a uterus is no longer commonly performed at bedside because families find it shocking and ultrasound will be obtained anyway
Genitograms are not as commonly performed anymore because all patients will eventually get cystoscopy and vaginoscopy when surgery is delayed
Rapid FISH for XX or XY chromosomes takes 24 to 48 hours in most hospitals, longer if sent on Friday or holiday
XX DSD with ambiguous genitalia is most commonly congenital adrenal hyperplasia
Babies with salt-wasting CAH can die if sent home without steroids, making ambiguous genitalia essentially CAH until proven otherwise
Elevated 17-hydroxyprogesterone level is the key lab for diagnosing congenital adrenal hyperplasia
XY DSD babies can look so phenotypically female that no one would suspect ambiguous genitalia, and they often present in teenage years with amenorrhea
Prenatal dexamethasone treatment to decrease virilization in CAH is no longer indicated because it can cause cognitive delay in the child
There is no clear data yet on whether early versus late surgery for urogenital sinus is better
Babies have a mini-puberty of infancy lasting 8 to 12 weeks with certain hormone levels that can appear abnormal
In premature babies, it can take weeks to months to draw all necessary labs for DSD workup because they are too small to take all blood at once
XY patients with severe hypospadias can become 'hypospadias cripples' with many surgeries throughout lifetime never achieving desired result
Complete androgen insensitivity patients have normal depth vagina, not just lower third as previously taught
Mixed gonadal dysgenesis patients are extremely rare and typically present with asymmetrical genitalia
The average age to get first period is 12, but pediatricians typically don't worry until age 16, though most patients present around age 15
MRKH (Mayer-Rokitansky-Küster-Hauser syndrome) patients have normal appearing introitus but no actual vaginal opening, which pediatricians commonly miss
Vaginal dilations are first-line treatment for MRKH and work when the patient is ready to become sexually active
Examination under anesthesia may not be necessary for all MRKH patients if office exam, labs, and imaging are sufficient to guide initial management with dilators
Complete androgen insensitivity patients have a personality phenotype: extremely smart, extremely sweet, with perfect skin and minimal body hair
More sophisticated CAIS patients are electing to keep their gonads longer to avoid estrogen replacement therapy and are enrolled in prospective studies to assess cancer risk
CAIS patients can present in infancy with inguinal hernia containing a gonad that doesn't look exactly like an ovary
Current recommendation is to biopsy but not remove gonads in infant CAIS patients, as it is safe and normal to keep them through and beyond puberty
Highly virilized CAH patients may identify as female but be more tomboyish, which should not be interpreted as a mistake in gender assignment
Gender-neutral child rearing is a new concept that will become more common internationally and in the US over the next decade
Less surgery will happen on babies over the next decade with more choices being made in teenage years
The DSD Translational Research Network is a 10-center collaboration headed by Michigan and UCLA that tracks long-term outcomes including gender identity, body self-image, and sexual satisfaction
Informed consent for DSD surgery must include patients repeating back that they understand surgery will not be the last and that revision surgeries will likely be required
There is currently a high-profile legal case examining implications of gender assignment decisions in DSD