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AMBIGUOUS GENITALIA
Presented by : Dr. Abhay Pota
www.dnbpediatrics.com
TABLE OF CONTENTS
• Introduction
• Revised nomenclature
• Normal sexual development
• Evaluation of a new born with suspec...
Pointers
DEFECT POINTERS
PIGMENTATION CAH, SFI defect
GENITAL ASYMMETRY MGD, OT, DSD
HYPERTENSION 11(X) or 17 (x) hydroxyl...
Sperleng
• High intrauterine concentrations of
testesterone may influence brain
development.
• Affecting later behaviour a...
Nursery evaluation of a newborn with
suspected DSD
HISTORY PHYSICAL EXAMINATION
Family h/o External genitals
Neonatal deat...
Male pseudo : 46 XY
DSD
Female Pseudo : 46 XX
DSD
GENOTYPE XY XX
EXTERNAL
GENITALIA
are female are virilized
As there is n...
True hermaphroditism – ovotesticular
DSD
• Both ovarian and testicular tissues present
in same or opposite gonads.
www.dnb...
Evaluation of a new born with
suspected DSD
• [1] DSD work up required in :
i. Infants with genital ambiguity
ii. Girls wi...
Introduction
Ambigo
us
genitali
a
Psudoh
ermaph
roditis
m
DSD
Intersex
• Revised nomenclature &
classification i.e.
consid...
[c] Diagnostic tests
• (1) Lab tests
- first line
- second line
- chromosomal analysis
• (2) Pelvic USG
• (3) Genitogram (...
Time course of sexual differentiation
• (1) FT
• Only period during which labioscrotal fusion
can occur
PLACENTAL HCG
LTR ...
• [2] ST & TT
• In females, clitoromegaly and darkening and
virgation of labioscrotal folds.
FETAL PITUATARY
LH
TESTESTERO...
APPROACH TO CRYPTORCHIDISM
PALPABLE GONADS
Hcg test
Retractile or
ectopic testis
No treatment Hcg trial
Assess scrotal dev...
Revised nomenclature
INTERSEX DSD
[1] MALE PSEUDOHERMAPHRODITE
UNDERVIRILATION OF AN XY MALE 46, XX DSD
UNDERMASCULIZATION...
So, in essence
• 1- Early consultation with pediatric
endocrinologist
• 2- Not disclosing sex of child hastily when in
dou...
Estrogen
Ovary
BIPOTENTIAL GONADS
Wolffian development
AMH Testesterone
External genitalia
UROGENITAL RIDGE
Mullersion
dev...
GONADAL SEX
PALPABLE GONADS
GENETIC SEX
www.dnbpediatrics.com
21 SW + FPH + N female newborn later precocious P.
11 HT + FPH + No hypoglycemia + N male NB later
precocious P.
3 SW + FP...
Issues of sex assignment and issues
prior to it
• change in beliefs and practise
• 2 dielemmas
- in 46 XX CAH
- in 46 XY n...
Ovotesticular DSD
• Both ovarian + testicular tissues present,
either in same or opposite gonads.
• Cause unknown
i. Highl...
• Diagnosis by histology and gonadal biopsy
• Surgically remove the inconsistent tissue
www.dnbpediatrics.com
AIS – most common form of male DSD
• Reijenstein syndrome
• Gilhert dreytuos syndrome
• Rey syndrome
• Hcg does not raise
...
• Evaluation :
1. Monthly 25-50 mg IM testesterone for 3
months
- No increase in size of penis by 2 cm PALS
2. Genetic stu...
46 XX DSD
• [1] CAH
- most common cause of XX DSD as well as overall
- females with 21 and 11 hydroxylase defects are
most...
• [2] Aromatase deficiency
- both mother and infant are virilized due to
inability to convert androgens to estrogens
• [3]...
• [4] undermined causes –
- smith – cemli apitz syndrome
- Kallman syndrome
- growth hormone deficiency
- kleinfelter
- pr...
• [5] cryptorchidism
- 3 : 1000 more in premature
- USG / MRI
- Hcg stimulation test, AMH, FSH, LH,
testesterone levels me...
• [2] defects in testicular hormones
i. CAH
ii. Leydig cell aplasia – AR
- female phenotype
- testes + epididymis + VAS – ...
Defects in androgen action
i. 5 α , reductase deficiency type 2 gene of ch.2 defect
Testo 5α DHT
R
wolffian external genit...
46 XY DSD
• Complex
• Early referral to ped. Endocrinologist
• 50 % cases then also remain undiagnosed
www.dnbpediatrics.c...
• [1] defects in testicular differentiation
i. Denys rash syndrome – WR1 mutation
- DSD + B/L wilm’s + nephropathy
- diffu...
• iii. Campomelic syndrome – SOX9 mutation
- bowing of tibia and femur, small thoracic
cavity, DSD, malformations of other...
• V. XY gonadal agenesis syndrome
- vanishing testes syndrome/ embryonic
testicular regression syndrome
- hypoplastic labi...
Regression of testes
• Before 8 weeks – swyer syndrome
• 8-14 weeks – rudimentary testes syndrome
• > 14 weeks - anoechia
...
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  1. 1. AMBIGUOUS GENITALIA Presented by : Dr. Abhay Pota www.dnbpediatrics.com
  2. 2. TABLE OF CONTENTS • Introduction • Revised nomenclature • Normal sexual development • Evaluation of a new born with suspected dsd • 46 xx dsd • 46 xy dsd • Gonadal differentiation disorders • Issues of sex assignment and issues prior to it - Surgery - Medical treatment - psychological & genetic counceling and support • Key pointers • In essence www.dnbpediatrics.com
  3. 3. Pointers DEFECT POINTERS PIGMENTATION CAH, SFI defect GENITAL ASYMMETRY MGD, OT, DSD HYPERTENSION 11(X) or 17 (x) hydroxylase defect HEMIHYPESTROPHY WT 1mutation RENAL FAILURE Denish drash syndrome www.dnbpediatrics.com
  4. 4. Sperleng • High intrauterine concentrations of testesterone may influence brain development. • Affecting later behaviour and the formation of gender identity. www.dnbpediatrics.com
  5. 5. Nursery evaluation of a newborn with suspected DSD HISTORY PHYSICAL EXAMINATION Family h/o External genitals Neonatal death Gonadal size, position and descent maternal drug exposure Bimanual rectal examination maternal virilization Associated anamolies Placental insufficiency Prenatal findings www.dnbpediatrics.com
  6. 6. Male pseudo : 46 XY DSD Female Pseudo : 46 XX DSD GENOTYPE XY XX EXTERNAL GENITALIA are female are virilized As there is no AMH, Mullersion duct develops into uterus, tubes and ovaries. But due to presence of excess androgens external genitalia are virilized www.dnbpediatrics.com
  7. 7. True hermaphroditism – ovotesticular DSD • Both ovarian and testicular tissues present in same or opposite gonads. www.dnbpediatrics.com
  8. 8. Evaluation of a new born with suspected DSD • [1] DSD work up required in : i. Infants with genital ambiguity ii. Girls with inguinal masses ( ? AIS) iii. Boys with cryptorchidism (? AHS) iv. Penoscrotal hypospadias (? undervision nth samjatu ) v. Adollescent girls with amenorrhoea (? AIS) www.dnbpediatrics.com
  9. 9. Introduction Ambigo us genitali a Psudoh ermaph roditis m DSD Intersex • Revised nomenclature & classification i.e. considerate of molecular genetics non derogatory • Despite many advances specific cause of DSD can not always be found especially in XY DSD. www.dnbpediatrics.com
  10. 10. [c] Diagnostic tests • (1) Lab tests - first line - second line - chromosomal analysis • (2) Pelvic USG • (3) Genitogram (VCUG) www.dnbpediatrics.com
  11. 11. Time course of sexual differentiation • (1) FT • Only period during which labioscrotal fusion can occur PLACENTAL HCG LTR RECEPTOR ON TESTES TESTESTERONE SYNTHESIS www.dnbpediatrics.com
  12. 12. • [2] ST & TT • In females, clitoromegaly and darkening and virgation of labioscrotal folds. FETAL PITUATARY LH TESTESTERONE PENILE SIZE, SCROTAL MATURATION & TESTICULAR DESCENT www.dnbpediatrics.com
  13. 13. APPROACH TO CRYPTORCHIDISM PALPABLE GONADS Hcg test Retractile or ectopic testis No treatment Hcg trial Assess scrotal development Undescended testis Descended Not Descended FU Orchidopexy Undescended testis Anorchia Surgery Laparoscopy www.dnbpediatrics.com
  14. 14. Revised nomenclature INTERSEX DSD [1] MALE PSEUDOHERMAPHRODITE UNDERVIRILATION OF AN XY MALE 46, XX DSD UNDERMASCULIZATION OF AN XY MALE [2] FEMALE PSEUDOHERMAPHRODITE OVERVIRILATION OF AN XX FEMALE 46, XY DSD MACULIZATION OF AN XX FEMALE [3] TRUE HERMAPHRODITE OVOTESTICULAR DSD [4] XX SEX REVERSAL 46 XX TESTICULAR DSD [5] XY SEX REVERSAL 46, XY COMPLETE GONADAL DYSGENESISwww.dnbpediatrics.com
  15. 15. So, in essence • 1- Early consultation with pediatric endocrinologist • 2- Not disclosing sex of child hastily when in doubt • 3- Thorough knowledge of endocrine system, genital development and genetic studies • 4- Team approach • 5- www.dnbpediatrics.com
  16. 16. Estrogen Ovary BIPOTENTIAL GONADS Wolffian development AMH Testesterone External genitalia UROGENITAL RIDGE Mullersion development GERM CELLS + SOMATIC CELLS Testis DHT www.dnbpediatrics.com
  17. 17. GONADAL SEX PALPABLE GONADS GENETIC SEX www.dnbpediatrics.com
  18. 18. 21 SW + FPH + N female newborn later precocious P. 11 HT + FPH + No hypoglycemia + N male NB later precocious P. 3 SW + FPH + MPH 17 HT + MPH + No hypoglycemia + N Female NB later precocious P Star SW + MPH + N female NB later precocious www.dnbpediatrics.com
  19. 19. Issues of sex assignment and issues prior to it • change in beliefs and practise • 2 dielemmas - in 46 XX CAH - in 46 XY no penile tissues • Counseling of parents • Multidisciplinary approach • Guarded approach in immediate revealing of sex • Thorough investigation • Until a sex assignment is made withhold, giving gender specific names or references • Circumcision c/I www.dnbpediatrics.com
  20. 20. Ovotesticular DSD • Both ovarian + testicular tissues present, either in same or opposite gonads. • Cause unknown i. Highly viviinadequate testicular tissue – uterus- reared on male ii. Virilization minimal + unadequate testicular tissue + uterus reared on female www.dnbpediatrics.com
  21. 21. • Diagnosis by histology and gonadal biopsy • Surgically remove the inconsistent tissue www.dnbpediatrics.com
  22. 22. AIS – most common form of male DSD • Reijenstein syndrome • Gilhert dreytuos syndrome • Rey syndrome • Hcg does not raise testesteronre PALS • Test : DHT ratio normal AIS Partial Complete www.dnbpediatrics.com
  23. 23. • Evaluation : 1. Monthly 25-50 mg IM testesterone for 3 months - No increase in size of penis by 2 cm PALS 2. Genetic studies for mutation in receptor 3. Sex assignment - PALS – male - CALS - female www.dnbpediatrics.com
  24. 24. 46 XX DSD • [1] CAH - most common cause of XX DSD as well as overall - females with 21 and 11 hydroxylase defects are most highly virilized - salt loosers have more virilization as compared to non salt loosers. - male : female = 1:1 - incidence – 1 : 16,000. www.dnbpediatrics.com
  25. 25. • [2] Aromatase deficiency - both mother and infant are virilized due to inability to convert androgens to estrogens • [3] maternal hyperandrogenic conditions - virilizing tumours, exposure to androgenic drugs during pregnancy • [4] Glucocorticoid receptor mutation - antley Bixler syndrome www.dnbpediatrics.com
  26. 26. • [4] undermined causes – - smith – cemli apitz syndrome - Kallman syndrome - growth hormone deficiency - kleinfelter - prader willi - Downs - Noonan - Fanconi’s - fetal hydantoin syndromes www.dnbpediatrics.com
  27. 27. • [5] cryptorchidism - 3 : 1000 more in premature - USG / MRI - Hcg stimulation test, AMH, FSH, LH, testesterone levels measured - Orchidopexy at 1 year - If not possible remove them _____ www.dnbpediatrics.com
  28. 28. • [2] defects in testicular hormones i. CAH ii. Leydig cell aplasia – AR - female phenotype - testes + epididymis + VAS – uterus FT - secondary sexual characters - LH , testosterone www.dnbpediatrics.com
  29. 29. Defects in androgen action i. 5 α , reductase deficiency type 2 gene of ch.2 defect Testo 5α DHT R wolffian external genitalia structures - Normal testosterone - DHT - Testo : DHT ratio - Secondary sexual characters and spermatogenesis normal www.dnbpediatrics.com
  30. 30. 46 XY DSD • Complex • Early referral to ped. Endocrinologist • 50 % cases then also remain undiagnosed www.dnbpediatrics.com
  31. 31. • [1] defects in testicular differentiation i. Denys rash syndrome – WR1 mutation - DSD + B/L wilm’s + nephropathy - diffuse mesangial sclerosis nephrotic syndrome ESRD by 8 yrs ii. WAGR syndrome – WR1 mutation -wilms + aniridiaa + GU anamolies + retardation - WAGRO www.dnbpediatrics.com
  32. 32. • iii. Campomelic syndrome – SOX9 mutation - bowing of tibia and femur, small thoracic cavity, DSD, malformations of other organs • Iv. Swyer syndrome – SRY gene mutation - XY pure gonadal dysgenesis - vagina + uterus + FT – breast – menses www.dnbpediatrics.com
  33. 33. • V. XY gonadal agenesis syndrome - vanishing testes syndrome/ embryonic testicular regression syndrome - hypoplastic labia + perineal urethral opening + clitoris – uterus gonadal tissue – vagina – sexual development www.dnbpediatrics.com
  34. 34. Regression of testes • Before 8 weeks – swyer syndrome • 8-14 weeks – rudimentary testes syndrome • > 14 weeks - anoechia www.dnbpediatrics.com
  35. 35. www.dnbpediatrics.com
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  38. 38. www.dnbpediatrics.com
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  48. 48. www.dnbpediatrics.com
  49. 49. www.dnbpediatrics.com
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