Paediatric Surgery
Different Sexual Development
Built from Puri — Pediatric Surgery and Pediatric Urology
What’s inside
14 sections · 92 slides
Overview
- Start here: what does 'sex development' even mean?
- Why the name 'DSD', and how common is it?
- What this deck will walk through
Human Sexual Development
The normal blueprint you must know before anything can go 'differently'
- The embryo starts out sexually neutral
- The Y chromosome flips the switch toward 'testis'
- Once a testis forms, its hormones build the male body
- Testosterone gets a more powerful helper: DHT
- The female pathway: the default program
- Psychosexual development: no single decider
Classifying DSD
Three families, sorted first by chromosomes, then by where development went differently
- How the classification is organized
- The three families of DSD at a glance
Sex-Chromosome DSD
When the number or structure of the sex chromosomes is abnormal
- Turner and Klinefelter: the two classic aneuploidies
- Mosaicism and chimerism: mixed cell populations
46,XY DSD
A Y chromosome is present, but the male program is incomplete
- Two ways the male program can break down
- When hormone SYNTHESIS fails
- When hormone ACTION fails: sent but not heard
- The AIS spectrum and Mullerian persistence
46,XX DSD
Two X chromosomes, yet development moves toward the male side or the gonad fails
- Gonadal-development disorders in 46,XX
- Androgen excess: congenital adrenal hyperplasia (CAH)
Diagnostic Evaluation
An ordered work-up: history and exam first, then biochemistry, genetics and imaging
- Atypical genitalia in the newborn
- Red flags: when to suspect DSD
- Step 1 - History (anamnesis): listen before you test
- Step 2 - Examination: safety first, then anatomy
- A structured algorithm for the suspected-DSD newborn
- Step 3 - First-line investigations
- Better hormone assays, imaging and histology
- Genetic testing and what molecular diagnosis adds
- Sex assignment: a careful, evidence-based team decision
Surgical Management: The Gonads
Balancing cancer risk against preserving function and fertility
- What surgery is trying to achieve
- Germ-cell cancer risk varies widely by diagnosis
- Why gonads matter: germ-cell tumor risk
- Deciding when to remove a high-risk gonad
- Bilateral germ-cell cancer discovered laparoscopically
- Gonadal biopsy and the appearance of an ovotestis
- Biopsy is the gold standard for reading a gonad
- The laparoscopic look of a streak gonad
- Bring gonads down, or take them out
- Special situations: CAIS and ovotestis
Feminizing Surgery in CAH
Three components: the clitoris, the urogenital sinus and vagina, and the labia
- Feminizing surgery: contested timing, careful conduct
- Nerve-sparing reduction of the enlarged clitoris
- Managing clitoral enlargement: conserve, do not ablate
- The spectrum of urogenital sinus anatomy
- The urogenital sinus (UGS): a shared channel
- Freeing the posterior vaginal wall from the rectum
- Flap vaginoplasty and the pull-through concept
- Total urogenital sinus mobilization (TUM)
- Total and partial urogenital mobilization (TUM / PUM)
- The severely masculinized female with CAH
- Mobilizing and opening a high urogenital sinus
- Everting the sinus flap to reach the vaginal wall
- The challenge of the high vagina
- Laparoscopic assistance for the high urogenital sinus
- Completing the labiaplasty
- Labiaplasty: the finishing component
Feminizing Approach in Non-CAH DSD
Creating or enlarging a vagina when the problem is not androgen excess
- Different starting anatomy in non-CAH patients
- Techniques for creating a neovagina
- Laparoscopic sigmoid colon vaginoplasty
- Sigmoid vaginoplasty: a bowel neovagina
Hypospadias Repair in DSD
Building a straight phallus with a distal meatus in undervirilized males
- Goals and assessment of hypospadias repair
- The three steps of hypospadias surgery
Mullerian Remnants and Utricles
Retained female-type structures in genetically male or dysgenetic patients
- Enlarged prostatic utricle and Mullerian remnants
- A uterus with tubes and two testes in a 46,XY patient
- Operating on Mullerian remnants
Malformations Associated with DSD
Cloacal exstrophy, aphallia and severe micropenis
- Cloacal exstrophy and its genital reconstruction
- Cloacal exstrophy: rebuilding a functioning phallus
- Aphallia and lower-abdominal-flap phalloplasty
- Aphallia: rare absence of the phallus
Timing, Ethics and the Future
The central debate: whether and when to perform irreversible surgery
- The timing debate: for and against early surgery
- Future needs: evidence, ethics and consent
- Key takeaways
- In a newborn with nonpalpable gonads and atypical genitalia, which diagnosis must be excluded first, and why?
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- Pediatric Surgery and Pediatric Urology