Professor Hassan Nasrat Disorders of Sexual Differentiation Professor Hassan Nasrat

Disorders of Sexual Differentiation Professor Hassan Nasrat

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.

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

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

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

46, XX Disorder, In utero Exposure to Androgen

Congenital Adrenal Hyperplasia

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

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.

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?”

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

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

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