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بسم الله الرحمن الرحیم

بسم الله الرحمن الرحیم. 46 XY DSD Noushin Rostampour Assistant Professor Of Pediatric Endocrinology Shahrekord University Of Medical Science. Male sex diffrentiation. Choromosomal sex Gonadal sex Sexual phenotype . Gonadal sex. Urogenital ridge → Primitive gonad 4-5 wk.

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بسم الله الرحمن الرحیم

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  1. بسم الله الرحمن الرحیم

  2. 46 XY DSD NoushinRostampour Assistant Professor Of Pediatric Endocrinology Shahrekord University Of Medical Science

  3. Male sex diffrentiation • Choromosomal sex • Gonadal sex • Sexual phenotype

  4. Gonadal sex Urogenital ridge →Primitive gonad 4-5 wk

  5. Testis determination Testis determination occurs at about six weeks of gestation

  6. Testis determination The SRY gene initiates the process of testis determination.

  7. Internal urogenital tract Wolffian and mullerian ducts are present in both sexs

  8. Anti mullerian hormone Sertoli cells→:AMH (7wk) Regression of mullerian duct

  9. FetalLeydig cells and androgen production FetalLeydig cells →androgens by 8 to 9 wk

  10. FetalLeydig cells and androgen production Testosterone Wolffian duct: Epididymides Vasa deferentia Seminal vesicles Ejaculatory ducts

  11. Sexual phenotype DHT:androgenization of the external genitalia and urogenital sinus

  12. Sexual phenotype Genital swelling→ Scrotum Genital folds →Shaft of the penis Genital tubercle →Glans penis

  13. Testis descenting • Testicular descent :at around 12 weeks • Complete by the middle of the third trimester.

  14. DEFINITION 46 XY DSD Ambiguous or female external genitalia

  15. DEFINITION Incomplete intrauterine masculinisation with or without the presence of Mullerian structures

  16. Classification

  17. Classification 1-ABNORMALITIES OF GONADAL DEVELOPMENT • Complete or partial gonadal dysgenesis • Testis regression syndrome • Ovotesticular 46,XY DSD 2-Testosterone synthesis defects • LH receptor mutations • Smith-Lemli-Opitz syndrome • Steroidogenic acute regulatory protein mutations • Cholesterol side chain cleavage (CYP11A1) defects

  18. Classification • 3-β-HSD 2 deficiency • 17α-hydroxylase/17,20-lyase deficiency • POR deficiency • 17-βHSD 3 deficiency • 5α-reductase2 deficiency 3-DEFECTS IN ANDROGEN ACTION • AIS 4-other • Persistence of Müllerianducts syndrome

  19. Case 1 دختر 14 سال و 2 ماهه ای به علت تا خیر بلو غ مراجعه کرده است.وزن بیمارkg 52 و قد وی 167 سانتیمتر می باشد. در معاینه باید به چه نکاتی دقت کرد؟

  20. P/E معاینه از نظر مرحله بلوغ (سینه ها –موهای تناسلی) معاینه ژنیتالیا معاینه شکم از نظر توده علائم حیاتی با تاکید بر فشار خون

  21. case1 Breast=II, Pubic hair=I Genitalia:clitoromegaly,blind vaginal pouch BP=110/70 Other examination:normal

  22. Lab evaluation از نظر پاراکلینیک چه ارزیابی هایی درخواست می کنید؟

  23. Lab evaluation1 سونوگرافی شکم و لگن

  24. Lab evaluation1 در سونوگرافی رحم و تخمدان ندارد.دو توده با اکوی مشابه بیضه در اینگوینال

  25. Lab evaluation1 تشخیص احتمالی؟ بررسی بعدی ؟

  26. Lab evaluation1 LH FSH Testosterone DHT Estradiol 17OHP AD

  27. Lab evaluation 1 آزمایشات: 17OHP=normal Testosterone :High ↑Estradiol (for male) ↑↑LH FSH=Nl

  28. Lab evaluation 1 HCG test

  29. Lab evaluation 1 T/DHT= ) 7NL(

  30. Lab evaluation 1 Karyotype

  31. Diagnosis اگر کاریوتیپ بیمار 46 XY باشد چه تشخیصی مطرح می شود؟

  32. Diagnosis Androgen insensitivity syndrome

  33. Androgen insensitivity syndrome • Loss of function mutations of the gene that encodes the androgen-receptor • X-linked recessive • CAIS ,PAIS • Female external genitalia • Ambiguous • Hypospadias • Vagina is either absent or short and blind-ending • Testes may be located in the abdomen, the inguinal canals, or the labia majora • 1-2% girls with inguinal hernia

  34. Androgen insensitivity syndrome The urogenital tract :absence or near absence of müllerianstructures Breast development is that of a normal woman, but has not had her menarche Axillary and pubic hair are markedly decreased or absent.

  35. Androgen insensitivity syndrome These patients are taller (average height 172 cm) and heavier than normal women

  36. AIS:Lab Data ↑ LH and testosterone levels ↑Estradiol(for male reference range) FSH levels often normal or slightly increased

  37. AIS:Treatment • Gonadectomy should be performed because of the increased risk of testicular tumors, especially after puberty.

  38. Possibility of AIS Girls with inguinal hernias or labial masses Women with primary amenorrhea Adolescent girls who become virilized and develop clitoromegaly Adult men with undervirilization or with infertility associated with azoospermia or severe oligospermia

  39. Case 2 نوزاد 16 روزه ای با بی حالی و لتارژی ارجاع شده است .در معاینه دهیدره بوده و رفلکس های نوزادی کاهش یافته است.در معاینه چه نکاتی اهمیت دارد؟

  40. Case 2 چک علائم حیاتی معاینه ژنیتالیا چک فشار خون

  41. Case 2 در معاینه ژنیتالیا اسکروتوم دو شاخه-میکروپنیس و هیپوسپدیاز دارد بیضه ها در اسکروتوم می باشد تا کی کارد بوده و فشار خون پائین است

  42. Case 2 بررسی بعدی؟

  43. Case 2 ارسال آزمایشات اولیه Blood gas Na/K BS Sepsis W/UP

  44. Case 2 Blood gas:PH=7.15 Hco3=5 Na=123 K=7.5 BS=50

  45. Case 2 آزمایشات تکمیلی؟

  46. Case 2 17 OHP DHEAS Testosterone Cortisol

  47. Case 2 ↑17 OHP ↑DHEAS ↓Testosterone ↓Cortisol

  48. Case 2 تشخیص؟ درمان ؟

  49. 3-beta hydroxystroiddehydogenase II deficiency

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