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