The document discusses differences of sexual development (DSD), addressing the classifications, incidence, causes, and evaluation methods for ambiguous genitalia. It outlines various types of DSD, including 46,XX DSD, 46,XY DSD, and ovotesticular DSD, and explains the importance of accurate diagnosis and gender assignment in management. The document emphasizes the complexities surrounding hormonal, genetic, and social factors impacting psychosexual development and fertility challenges associated with DSD.

1. DSD/ “Ambiguous genitalia or Intersex”
(Differences of Sexual Development)
Dr. Raghu Nath Karmaker
MS, Phase- B Resident
Pediatric Surgery
MMC

2. Definitions:
• DSD is a congenital conditions in which infant/ child's has developed –
1. Chromosomal
2. Gonadal
3. Anatomic sex are atypical
• Hormonal, metabolic, and chromosomal abnormalities( abnormal
genital development)
• The most challenging for pediatric urologist, gynecologist, and
surgeon.

3. Gender and sex Differentiation:

4. Derivative's of urogenital system:

5. Pathways of steroid biosynthesis:

6. Incidence and Cause:
• The incidence of true ambiguous genitalia: 1:4500-5000
• CAH & MGD are most common cause

7. Pathogenesis of DSD:
1. Overabundance of androgenic steroid production(genetic female are
masculinized)
2. Deficient androgen production (genetics males)
3. Mutations (GD- Absent, incomplete, or asymmetric)

8. Classification
• Allen classified primarily by gonadal histology in 1976(intersex or
hermaphrodite).
• Newer 3 broad categories :
sex chromosome DSDs
46,XY DSDs ( Male pseudo-hermaphrodite)
46,XX DSDs (Female pseudo-hermaphrodite)
Ovotesticular DSDs(true)

9. Evaluation of DSD
• History :
Family history, infertility, hirsutism, drug inj. Progesterone during preg.
• Physical examination :
1. Focus on genitalia
2. Phallic stretched length, clitoral size, urogenital sinus position
3. Abdomen and Rectal examination- uterus
4. Bronzing of areola or scrotum
5. Palpable gonads
6. Status of hydration, pigmentation, murmur, web neck

10. • Chromosomal evaluation
Karyotyping
• Biochemical:
1. Serum electrolyte
2. Testosterone, DHT, DHEA level
3. 17-OH progesterone
4. FSH,LH
5. Serum cortisol level
6. Serum progesterone level

11. Radiology :
• USG
• MRI
• Genitogram
1. Diagnostic laparoscopy
2. Endoscopy : level of confluence
3. Histopathology : Gonadal biopsy.

12. 46,XX DSD
• Karyotype: 46,xx
• Phenotype: Normal male appearance(mild cliteromegaly)
• Normal female mullerian ductal system
• Excess androgen(CAH)
• Exclusively ovarian tissue
• Salt wasting causing dehydration, vascular collapse, hyperkalemia due to
block mineralocorticoid(11B-Hydroxylase def.)
• Genetic counseling, dexamethasone, feminizing genitoplasty

13. 46,XY DSD
• Karyotype:46,XY Genotype
• Phenotype :Male
• Testicular tissue only
• Hydroxylase enzyme deficiency causing cortisol deficit
• Hyponatremia, hyperkalemia, metabolic acidosis
• Excess salt and water retention ,hypertension and hypokalemia
• CAIS –also called testicular feminization
• Normal female external genitalia and a blind ending vagina, testes non palpable
• HCG stimulation test, FSH, LH & Testosterone level
• Male gender assignment is recommended

14. Ovotesticular DSD
• Karyotypes are variable
• Both ovarian & testicular tissue are present
• Tissues are distributed longitudinally
• Diagnosed by gonadal biopsy
• Gender assignment by phenotype features

15. MGD
• Karyotype: 45,X0 /46,XY & stigmata of TS
• Second most common neonatal ambiguous genitalia
• Patient will have a testes on one side and a streak gonad on other side
• Streak gonad associated with fallopian tube and uterus but lack of MS
• Gonadal tumor( gonadoblastoma)
• Diagnosed by physical examination (webbed neck, shield chest) & karyotyping
• Female undergo early gonadectomy and feminizing genitoplasty and
• Male requires early excision of streak gonad,orchiopexy or orchiectomy and
hypospadias repair
• Low dose radiation therapy

16. PGD
• Karyotype 46,XY /45,X0 or a Mosaic
• Streak gonads bilaterally
• External phenotype and internal duct structure are female
• Diagnosed by physical examination,USG,FSH ,LH ,Estrogen &
Testosterone level
• Hormone replacement at puberty

17. Fertility preservation
• Reproduction is challengeing with gonadal failure due to various
factors
• Fertility potential suggested by donor oocytes (IVF)
• Cryopreservation of pre-pubertal gonadal tissue & in vitro ovarian
follicles and sperm maturation for future reproduction( experimental)

18. Psychosexual development
• Gender assignment for children is critical decision with life long
impact for both the child and family
• Gender dysphoria
• Hormonal influences versus socialization on the gender identity
remains a topic of ongoing research
• Gender identity by rearing ,learning & socialization and masculine
play are strong predictors

19. Management
• Counselling of DSD
• Pre- surgical testosterone for male
• Male gender assignment (Reconstructive surgery with orchiopexy or
orchiectomy & hypospadias repair)
• Female gender assignment(Feminizing genitoplasty)