A case of Ambiguos Genitalia

1. AMBIGUOUS GENITALIA
Dept of Urology
Govt Royapettah Hospital and Kilpauk Medical College
Chennai
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2. Moderators:
Professors:
• Prof. Dr. G. Sivasankar, M.S., M.Ch.,
• Prof. Dr. A. Senthilvel, M.S., M.Ch.,
Asst Professors:
• Dr. J. Sivabalan, M.S., M.Ch.,
• Dr. R. Bhargavi, M.S., M.Ch.,
• Dr. S. Raju, M.S., M.Ch.,
• Dr. K. Muthurathinam, M.S., M.Ch.,
• Dr. D. Tamilselvan, M.S., M.Ch.,
• Dr. K. Senthilkumar, M.S., M.Ch.
Dept of Urology, GRH and KMC,
Chennai.
2

3. CASE HISTORY
• 22Yrs.
• C/O-PAIN AND SWELLING BOTH INGUINAL REGION- 2
months.-dull aching.
• c/o- not attained menarche.
• No h/o voiding difficulties.
• h/o change of voice.
• h/o development of moustache and beard -2 yrs.
3
Dept of Urology, GRH and KMC,
Chennai.

4. 4
Dept of Urology, GRH and KMC,
Chennai.

5. 5
Dept of Urology, GRH and KMC,
Chennai.

6. CASE HISTORY
P/H –no co morbid illness,
- no h/o drug intake.
M/H- not attained menarche.
F/H-4 brothers and 3 sisters.
similar features in younger sister and father’s aunt’s
grand daughter.
6
Dept of Urology, GRH and KMC,
Chennai.

7. General examination
• Tall stature.
• Long and broad hand and feet.
• Hoarseness of voice.
• Male type of hair distribution in face,axilla
• Broad chest,
• Breasts-present .
7
Dept of Urology, GRH and KMC,
Chennai.

8. 8
Dept of Urology, GRH and KMC,
Chennai.

9. 9
Dept of Urology, GRH and KMC,
Chennai.

10. Local examination
• Bilateral inguinal swellings-size 2*3 cm.firm ,
• no cough impulse,not reducible.
• Clitoral hypertrophy.
• Labia present.
• P/V-vagina of length 5cm,blind ending.
cervix –not felt.
P/R-no prostate felt.
10
Dept of Urology, GRH and KMC,
Chennai.

11. 11
Dept of Urology, GRH and KMC,
Chennai.

12. 12
Dept of Urology, GRH and KMC,
Chennai.

13. 13
Dept of Urology, GRH and KMC,
Chennai.

14. Investigations
Blood-hemogram-normal.
Blood-urea-22mg%
-sugar-92mg%
-creatinine-1mg%
Serum-testosterone-1.68ng/ml(2.8-8)-male
(0.06-0.82)-female
-LH-30.55 MIU/ml
-FSH-73MIU/ml
-estradiol-26.32pg/ml
14
Dept of Urology, GRH and KMC,
Chennai.

15. Investigations
USG-well defined hyperechoic structure
3.2*2cm both inguinal region.
uterus and ovaries –absent.
KARYOTYPING-46XY.
15
Dept of Urology, GRH and KMC,
Chennai.

16. PROCEDURE
Bilateral inguinal canal exploration-
Findings-
-well developed testis and cord structures.
-indirect hernial sac in both sides.
Bilateral inguinal orchidectomy with herniorraphy.
Specimen sent for biopsy.
16
Dept of Urology, GRH and KMC,
Chennai.

17. 17
Dept of Urology, GRH and KMC,
Chennai.

18. 18
Dept of Urology, GRH and KMC,
Chennai.

19. 19
Dept of Urology, GRH and KMC,
Chennai.

20. HISTOPATHOLOGY
TESTIS WITH NO EVIDENCE OF
OVARIAN STRUCTURES.
ABSENT SPERMATOGENESIS WITH
HYPERPLASTIC LEYDIG CELLS.
• NO EVIDENCE OF MALIGNANCY.
20
Dept of Urology, GRH and KMC,
Chennai.

21. • Adviced cyclic harmonal replacement
therapy.
• Hair removal .
21
Dept of Urology, GRH and KMC,
Chennai.

22. CHROMOSOMAL SEX
Y chromosome determines the destiny of bipotential
gonad into testes or ovary-
Testes determining factor(TDF)
1959-Y chromosome.
1975-H-Y antigen-short arm of Y chromosome
1986-distal short arm of Y adj to pseudo autosomal
region.
1987-ZFY-zinc finger gene of Y chromosome.
1990-SRY-sex determining region in Y gene.
22
Dept of Urology, GRH and KMC,
Chennai.

23. Gonadal differentiation
-6 weeks of embryonal development-bipotential.
-SRY-presence
-initiates testicular organogenesis
-7-8 weeks-sertoli cells differentiation .
-Sertoli cells-MIS-mullerian regression.
-8-9 weeks-leydig cells –testosterone.
-SRY-absence
-ovarian organogenesis.
23
Dept of Urology, GRH and KMC,
Chennai.

24. Testicular descent
Three phases-
1)Trans abdominal-8th week
2)Trans inguinal-23-28 weeks
3)extracanalicular-28-32weeks.
24
Dept of Urology, GRH and KMC,
Chennai.

25. Factors for testes descent
-Endocrine factors-
-normal hypothalamic-pituitary-gonadal axis.
-androgens-testosterone and DHT-inguinal and scrotal
descent.
-In AIS –testes at inguinal canal
trans abdominal descent not affected.
-mullerian inhibiting substance-
secreted by sertoli cells.effect testicular descent
Cryptorchism in persistant mullerian duct syndrome.
25
Dept of Urology, GRH and KMC,
Chennai.

26. Factors for testes descent
• Descendin-androgen independent
,gubernaculum specific growth factor.
• Gubernaculum-attach testis to inguinal
canal.-aids in trans abdominal descent.
• Genito femoral nerve and Calcitononin
gene related peptide.-CGRP is
neurotransmitter in nerve endings-no
significant role.
26
Dept of Urology, GRH and KMC,
Chennai.

27. Undermasculinized Male
(Male Pseudohermaphroditism)
46,XY individuals with differentiated testes who exhibit varying degrees of
feminization phenotypically .
causes-
1)Leydig cell agenesis
2)Disorders of testosterone biosynthesis
- StAR deficiency (congenital lipoid adrenal hyperplasia)
- 3β-Hydroxysteroid dehydrogenase deficiency
- 17α-Hydroxylase deficiency
- 17,20-Lyase deficiency
- 17β-Hydroxysteroid oxidoreductase deficiency
3) Disorders of Androgen receptor and postreceptor defects
- Syndrome of Complete (Severe) Androgen Insensitivity
- Syndrome of Partial Androgen Resistance
- 5α-Reductase Deficiency
- Persistent Müllerian Duct Syndrome
27
Dept of Urology, GRH and KMC,
Chennai.

28. 28
Dept of Urology, GRH and KMC,
Chennai.

29. THANK
YOU
29
Dept of Urology, GRH and KMC,
Chennai.