Rashidi A girl with deepening of voice Patients ID 19 yo woman Born amp live in Tehran Professional athlete Source of history Patient amp her mother Cc deepening of voice ID: 1040276
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1. IN The Name Of GODDSDElahe Rashidi
2. A girl with deepening of voice
3. Patients ID19 y/o woman Born & live in TehranProfessional athlete Source of history: Patient & her mother
4. Cc: deepening of voicePresent Illness: A19-year-old patient who had female external genitalia at birth and was raised as a girlVoice change since two years ago (testosterone: high)At 15 y/o: development of axillary and pubic hair and mild clitoris enlargement and feeling of mass in inguinal canalAt 16 y/o: height growth spurtshe had primary amenorrhea and No breast development
5. PMH: -PSH:-DH:- History of testosterone injection: -
6. Family HistoryShe was born of a consanguineous marriageOne healthy brother (11 y/o)similar problems in the family: -Aunts are healthy & fertileMother: breast development at 13 y/o and menarche at 16 y/o
7. Physical Examinationheight : 178 cm (Predicted height: 177.5 ±10cm) (arm span: 179cm) (U/L Ratio: 0.9) weight 61 Kg / BMI: 19.6 blood pressure: 110/70 mmHgdid not have temporal recession, facial hair, acne, body hairs
8. Tanner staging : P 4 , B 1Both gonads were palpable: (Rt: 4 cm in the inguinal)(Lt: 3 cm in the distal inguinal)External genitalia: labia majora: rugosity / bifid/ darkeninglabia minora: The distal two thirds were fused/ vaginal opening could not be seenObvious clitoromegaly, length of glans: 15mm/ width of glans: 10mm (CI: 150 mm²) (Nl: 5*7= 35 mm² )Perineal hypospadias
9. Hormonal Assay1400/11/51400/11/201401/8/4Normal RangeTestestrone783 ng/dl529 ng/dl710 ng/dl20-95FSH7.7 mIu/ml1.2-13.2LH6.8 mIu/ml0.7-7.4DHEAs2.1µg/ml0.03-5.8
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13. PROBLEM LIST A19 y/o patient with female phenotype and deepening of voice Primary amenorrheaP 4 , B 1Two palpable gonads in the inguinal canalsBifid labia majora with rugosity /darkeningFusion of labia minoraObvious clitoromegalyPerineal hypospadias Testestrone No uterus and ovaries in pelvic cavity46 XY
14. Approach to 46 XY DSD46,XY DSD due to disorders of testis development46,XY DSD due to disorders of androgen synthesis or actionother conditions affecting sex development
15. Williams text book of EndocrinologyWilliams textbook of Endocrinology
16. Differential Diagnosis5α -reductase 2 deficiency Partial Androgen Insensitivity Syndrome17β-HSD3 deficiency
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20. Clinical Rounds in Endocrinology
21. 5α-Reductase Type 2 5α-Reductase Testosterone DHT SRD5A2 gene5α-Reductase: expressed in androgen target tissue: external genitalia, urogenital sinus, prostate DHT:Potent androgenthe main virilizing agent during male reproductive developmentEndocrinology: ADULT & PEDIATRIC- De Groot
22. Steroid 5α-Reductase Type 2 DeficiencyAutosomal recessiveRarenormally differentiated testes and male internal ducts, but external genitalia may be ambiguous at birth typically a bifid scrotum, a urogenital sinus, a blind vaginal pouch, and a clitoris-like hypospadiac phallus Testes located in the inguinal canal/labioscrotal foldsWilliams textbook of Endocrinology
23. Steroid 5α-Reductase Type 2 Deficiency No müllerian structures The wolffian ducts : epididymides, vasa deferentia, and seminal vesicles are well differentiatedEjaculatory ducts usually terminate in the blind vaginal pouchProstate is hypoplasticUp to a third of cases may present with isolated hypospadias
24. Steroid 5α-Reductase Type 2 DeficiencyAt puberty: striking degree of virilization: The voice deepens, muscle mass increases, the phallus lengthens to 4 to 8 cmThe bifid scrotum becomes rugated and pigmentedTestes enlarge and descend into the labioscrotal folds
25. Steroid 5α-Reductase Type 2 DeficiencyPost pubertal: no acne, temporal hair recession, or enlargement of the prostate. They rarely develop gynecomastia, in contrast to individuals with 17βHSD3 deficiency or AIS There is normal libido with penile erections
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27. AgendaDetermination of gender identityFertility
28. Steroid 5α-Reductase Type 2 DeficiencyGender role:Gender changes occur frequently, particularly in individuals who do not undergo gonadectomyRates of social gender change in three cohorts ranged from 12% to 50%related to the age at diagnosisMendonca BB. Reprint of “Steroid5α-reductase 2 deficiency. J Steroid Biochem Mol Biol. 2017;165(PtA):95–100.
29. Steroid 5α-Reductase Type 2 DeficiencyFertility:Infertility is caused by :failure to transform spermatogonia into spermatocytesthe adverse effect of a cryptorchid testisthe specific role of DHT in regulating semen volume and viscositysome individuals have a normal sperm countKang HJ. The effectof 5α-reductase-2 deficiency’s effect on human fertility. Fertil Steril. 2014;101(2):310–316.
30. PlanPsychiatric consultationDetermination of gender identity female: Gonadectomy, Vaginoplasty, Cosmetic Surgery and Estrogen therapy male: Orchiopexy, Hypospadias surgery
31. Thanks for your attention