Professor Hassan Nasrat

Disorders of Sexual Differentiation

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: oMay present at birth as in cases with ambiguous genitalia

oMay not be diagnosed until puberty as in some cases of primary amenorrhea with or without virilisation

oDuring investigation for infertility.

46, XY DisorderInadequate secretion of testosterone:Androgen insensitivity syndrome 5α-Reductase Deficiency:Persistent Mullarian duct syndroem.The Vanishing testes syndromeGonadal dysgenesis syndomre

DSD due to Sex Chromosome disorders:

Klinefelter's Syndrome (47 XX)XX Male Turner Syndrome 45XOXX, 46 gonadal dysgenesisOvotestes (pure hermaphrodite

46, XX Disorder CAHMaternal androgen intake, maternal virilising tumorPlacental Aromatase enzyme deficiency

Unclassified DSD Mayer-Rokitansky-Küster-Hauser Syndrome

DSD due to Sex Chromosome disorders:

Klinefelter's Syndrome (47 XXY male)

nondisjunction of the sex chromosomes during the first or second meiotic division

one X is lost through non-disjunction in gametogenesis or an error in mitosis

Turner Syndrome “45 X0”

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

History:

Examination:

Investigations:

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

Gender Assignment:

Reproductive potential

Good Sexual function

Minimal medical procedures

An Overall gender-appropriate appearance

A stable gender identity

Psychosocial well-being.