anomalies by dr asad
Post on 22-Nov-2014
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Human sexual differentiation
Chromosomal sex
Gonadal sex
External genital sex Internal genital sex
SEX ASSIGNMENT
Gender identityand role
Sex of rearing
Gonadal developmentGonadal development SRY-gene (TDF)Short arm of Y chromosome
Bipotential Gonad
2 X chromosomesReceptors For H -Y antigen
OVARYTESTES
Present Absent
Leydigcells
Sertolicells
Testosterone Mullerian inhibiting factor
Wollfian duct 5a-reductase
Urogenital sinus
Regrsession of Muuleian ducts
Male external genitalia Male internal Genital organs
DHT
TESTIS
Male development
Urogenital sinus
Female external genitalia. Lower part of vagina
OVARY
Mullerian ducts
Female internal genitalOrgans
. Most of upper vagina . Cervix and uterus . Fallopian tubes
Neutral Development
Absence of androgen exposure
Female development
Why is this important?Why is this important?
Majority have no problem conceiving, but have higher rates of:– 1. Spontaneous Abortion– 2. Premature Delivery– 3. Infertility– 4. Abnormal Fetal Lie– 5. Dystocia at delivery– 6. Dysmenorrhea, endometriosis– 7. Cervical incompetence
Classification into 3 groups: Classification into 3 groups: Based on similar embryonic development Based on similar embryonic development defects and clinical presentationdefects and clinical presentation
1. Agenesis of uterus/vagina: Rokitansky-Kuster-Hauser Syndrome.
2. Defects in Vertical Fusion (obstructive or non-obstructive)
3. Lateral Fusion defects (obstructive or non-obstructive).
Mayer-Rokitansky-Kuster-HauserSyndrome (utero-vaginal agenesis)
15% of primary amenorrhea
Normal secondary development & external female genitalia
Normal female range testosterone level
Absent uterus and upper vagina & normal ovaries
Karyotype 46-XX 15-30% renal, skeletal and
middle ear anomalies
RKH Syndrome: DiagnosisRKH Syndrome: DiagnosisExpected MenarcheDifficult to differentiate from imperforate
hymenNo uterus on exam, U/S, MRI,
Laparoscopy, IVPConfused with Androgen Resistance
Syndrome with shallow pouch and no uterus.
Determine karyotype.
Vertical Fusion Defects: Vertical Fusion Defects: obstructive and non-obstructiveobstructive and non-obstructiveIncomplete cavitation of the vaginal plate
formed by the down-growing mullerian ducts and the up-growing urogenital sinus. Can be considered in two categories:
1.Imperforate Hymen2.Transverse Vaginal Septum
Lateral Fusion Defects: Lateral Fusion Defects: obstructive and non-obstructiveobstructive and non-obstructive
Lateral Fusion DefectsLateral Fusion Defects
Most common type of mullerian defects The resulting organs are either asymmetric or
symmetric and obstructed or nonobstructed. Result from failure of formation of one mullerian
duct, migration of a duct, fusion of the mullerian ducts, or absorption of the intervening septum. Defective resorption of the septum between the fused mullerian ducts results in a uterine septum, which may extend either partially down the uterus or the full length to the cervix. This is the most common uterine defect.
Obstructive Defect of Lateral Fusion:Obstructive Defect of Lateral Fusion:Failure of lateral fusion of two mullerian ducts and failure of one Failure of lateral fusion of two mullerian ducts and failure of one duct to communicate with the outside, thus unilateral obstruction. duct to communicate with the outside, thus unilateral obstruction. Uterus didelphys with obstructed hemivagina with ipsilateral renal Uterus didelphys with obstructed hemivagina with ipsilateral renal agenesisagenesis
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