2. TABLE OF CONTENTS
โข Introduction
โข Revised nomenclature
โข Normal sexual development
โข Evaluation of a new born with suspected dsd
โข 46 xx dsd
โข 46 xy dsd
โข Gonadal differentiation disorders
โข Issues of sex assignment and issues prior to it
- Surgery
- Medical treatment
- psychological & genetic counceling and support
โข Key pointers
โข In essence
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4. Sperleng
โข High intrauterine concentrations of
testesterone may influence brain
development.
โข Affecting later behaviour and the formation of
gender identity.
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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
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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
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7. True hermaphroditism โ ovotesticular
DSD
โข Both ovarian and testicular tissues present
in same or opposite gonads.
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8. Evaluation of a new born with
suspected DSD
โข [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)
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10. [c] Diagnostic tests
โข (1) Lab tests
- first line
- second line
- chromosomal analysis
โข (2) Pelvic USG
โข (3) Genitogram (VCUG)
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11. Time course of sexual differentiation
โข (1) FT
โข Only period during which labioscrotal fusion
can occur
PLACENTAL HCG
LTR RECEPTOR ON TESTES
TESTESTERONE SYNTHESIS
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12. โข [2] ST & TT
โข In females, clitoromegaly and darkening and
virgation of labioscrotal folds.
FETAL PITUATARY
LH
TESTESTERONE
PENILE SIZE, SCROTAL MATURATION
& TESTICULAR DESCENT
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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
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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. So, in essence
โข 1- Early consultation with pediatric
endocrinologist
โข 2- Not disclosing sex of child hastily when in
doubt
โข 3- Thorough knowledge of endocrine system,
genital development and genetic studies
โข 4- Team approach
โข 5-
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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
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19. Issues of sex assignment and issues
prior to it
โข change in beliefs and practise
โข 2 dielemmas
- in 46 XX CAH
- in 46 XY no penile tissues
โข Counseling of parents
โข Multidisciplinary approach
โข Guarded approach in immediate revealing of sex
โข Thorough investigation
โข Until a sex assignment is made withhold, giving gender
specific names or references
โข Circumcision c/I
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20. Ovotesticular DSD
โข Both ovarian + testicular tissues present,
either in same or opposite gonads.
โข Cause unknown
i. Highly viviinadequate testicular tissue โ
uterus- reared on male
ii. Virilization minimal + unadequate testicular
tissue + uterus reared on female
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21. โข Diagnosis by histology and gonadal biopsy
โข Surgically remove the inconsistent tissue
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22. AIS โ most common form of male DSD
โข Reijenstein syndrome
โข Gilhert dreytuos syndrome
โข Rey syndrome
โข Hcg does not raise
testesteronre PALS
โข Test : DHT ratio normal
AIS
Partial Complete
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23. โข 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 โ male
- CALS - female
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24. 46 XX DSD
โข [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 โ 1 : 16,000.
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25. โข [2] Aromatase deficiency
- both mother and infant are virilized due to
inability to convert androgens to estrogens
โข [3] maternal hyperandrogenic conditions
- virilizing tumours, exposure to androgenic drugs
during pregnancy
โข [4] Glucocorticoid receptor mutation
- antley Bixler syndrome
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27. โข [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 _____
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28. โข [2] defects in testicular hormones
i. CAH
ii. Leydig cell aplasia โ AR
- female phenotype
- testes + epididymis + VAS โ uterus FT
- secondary sexual characters
- LH , testosterone
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29. Defects in androgen action
i. 5 ฮฑ , reductase deficiency type 2 gene of ch.2 defect
Testo 5ฮฑ DHT
R
wolffian external genitalia
structures
- Normal testosterone
- DHT
- Testo : DHT ratio
- Secondary sexual characters and spermatogenesis normal
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30. 46 XY DSD
โข Complex
โข Early referral to ped. Endocrinologist
โข 50 % cases then also remain undiagnosed
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32. โข iii. Campomelic syndrome โ SOX9 mutation
- bowing of tibia and femur, small thoracic
cavity, DSD, malformations of other organs
โข Iv. Swyer syndrome โ SRY gene mutation
- XY pure gonadal dysgenesis
- vagina + uterus + FT โ breast โ menses
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