Dr. Zahida BrohiFCPS

ASSITANT PROFESSORIUH,HYDERABAD

Developmental Anomalies

Human sexual differentiation

Chromosomal sex

Gonadal sex

External genital sex Internal genital sex

SEX ASSIGNMENT

Gender identityand role

Sex of rearing

Gonadal developmentGonadal development

Gonadal developmentGonadal development SRY-gene (TDF)Short arm of Y chromosome

Bipotential Gonad

2 X chromosomesReceptors For H -Y antigen

OVARYTESTES

Present Absent

Internal genital organs development

Female Male

Urogenital sinus

External genital organs External genital organs

developmentdevelopment

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

Anomalies of Female Ductal Anomalies of Female Ductal SystemSystem

Mullerian AnomaliesMullerian Anomalies

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

Imperforate Hymen

Transverse Vaginal SeptumTransverse 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

Didelphic UterusDidelphic Uterus