1. Professor Hassan Nasrat
Disorders of Sexual Differentiation
Professor Hassan Nasrat

2. Disorders of Sexual Differentiation
Professor Hassan Nasrat

3. Disorders of Sexual Differentiation
DSD are abnormality in one of the elements of sex determination i.e. chromosomal, gonadal, or anatomic sex, which may be incompatible with each other
Clinical Presentation:
May present at birth as in cases with ambiguous genitalia
May not be diagnosed until puberty as in some cases of primary amenorrhea with or without virilisation
During investigation for infertility.

4. DSD due to Sex Chromosome disorders:
Klinefelter's Syndrome (47 XX)
XX Male
Turner Syndrome 45XO
XX, 46 gonadal dysgenesis
Ovotestes (pure hermaphrodite
46, XX Disorder
CAH
Maternal androgen intake, maternal virilising tumor
Placental Aromatase enzyme deficiency
46, XY Disorder
Inadequate secretion of testosterone:
Androgen insensitivity syndrome
5α-Reductase Deficiency:
Persistent Mullarian duct syndroem.
The Vanishing testes syndrome
Gonadal dysgenesis syndomre
Unclassified DSD
Mayer-Rokitansky-Küster-Hauser Syndrome

5. DSD due to Sex Chromosome disorders:
nondisjunction of the sex chromosomes during the first or second meiotic division
Klinefelter's Syndrome (47 XXY male)

6. Turner Syndrome “45 X0”
one X is lost through non-disjunction in gametogenesis or an error in mitosis

7. 46, XX Disorder, In utero Exposure to Androgen

8. Congenital Adrenal Hyperplasia

9. Principle of Management of CAH
Emergency treatment
Management of biguous genitalia
Future pregnancies:
Genetic counseling, prenatal therapy and Prenatal Diagnosis of 21OHD

10. Ambiguous genitalia
Ambiguous genitalia are DSD in which the outer genitals do not have the typical appearance of either a boy or a girl. This is a very rare event occurs in approximately 1 in 14,000.
For obstetricians attending childbirth any newborn with bilaterally impalpable testes or a unilaterally impalpable testis should be regarded as having an DSD until proven otherwise, whether or not the genitalia appear ambiguous.

13. The initial evaluation and management of such cases must be regarded as;
medical emergency because congenital adrenal hyperplasia, the most common cause of DSD, can be life threatening,
and psychosocial emergency since the first thing parents expect to know “ is it a boy or girl?”

14. Goals of management:
To make a precise diagnosis of the intersex disorder and exclude CAH.
To assign a proper sex of rearing

15. To make a precise diagnosis of the intersex disorder and exclude CAH:
History:
Examination:
Investigations:

16. Gender Assignment: Reproductive potential Good Sexual function
Minimal medical procedures
An Overall gender-appropriate appearance
A stable gender identity
Psychosocial well-being.