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46, xx DSD . Dr. Hashemi Pediatric Endocrinologist Assistant Prof. of Shahrekord University Of Medical Sciences. Normal Sex Development. The distinction between male and female is considered absolute so that sex assignment at birth is instantaneous. Normal Sex Development.

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46 xx dsd

46, xx DSD

Dr. HashemiPediatric EndocrinologistAssistant Prof. of Shahrekord University Of Medical Sciences


Normal sex development
Normal Sex Development

The distinction between male and female is considered absolute so that sex assignment at birth is instantaneous.


Normal sex development1
Normal Sex Development

  • Chromosomal sex

  • Gonadal sex

  • Phenotypic sex

  • Brain sex


Chromosomal sex
Chromosomal sex

  • Chromosomal sex refers to the karyotype

  • (46,XX, 46,XY )


Gonadal sex
Gonadal Sex

  • The primitive gonad arises from urogenital ridge at approximately 4 to 5 weeks' gestation.


Gonadal sex1
Gonadal Sex

  • The primitive gonad remains bipotentialuntil about 40 days' gestation .


Testis determination
Testis Determination

One of the first and most significant events in testis determination is SRY.


Ovarian development
Ovarian Development

  • Ovarian development is an active process that requires expression of a set of specific genes:

  • DAX1

  • WNT4

  • RSPO1


Phenotypic sex
Phenotypic Sex

  • The developing gonad produces several steroid and peptide hormones that mediate sexual differentiation and result in the phenotypic sex seen at birth.



Phenotypic sex female sexual differentiation internal genitalia
Phenotypic Sex Female Sexual Differentiationinternal genitalia

  • Müllerian structures persist to form:

  • Fallopian tubes

  • Uterus

  • Upper portion of the vagina.


Phenotypic sex female sexual differentiation internal genitalia1
Phenotypic Sex Female Sexual Differentiationinternal genitalia

The lack of local testosterone production leads to degeneration of wolffian structures.


Phenotypic sex female sexual differentiation external genitalia
Phenotypic Sex Female Sexual Differentiationexternal genitalia



Definition
Definition

  • Infants with a congenital discrepancy between external genitalia, gonadal and chromosomal sex are classified as having a disorder of sex development.


Disorders of sex development
Disorders of Sex Development

  • Some DSDs present with abnormalities of the external genitalia (ambiguous genitalia).

  • Many of these individuals present as newborns with an atypical genital appearance often termed "ambiguous genitalia".


Classification
Classification

Sex Chromosome DSD

46,XY DSD

46,XX DSD



Etiology of 46xx dsd
Etiology of 46xx DSD

  • A : Androgen Excess

  • Congenital adrenal hyperplasia

  • Aromatase deficiency

  • Glucocorticoid receptor gene mutation

  • Maternal source ( virilizing tumors e.g. luteoma)

  • Androgenic drugs (progestron , testosterone , …)


Case 1
Case 1

  • شيرخوار 3 هفته اي به علت Poor feeding ولتارژي با حالت شوك به اورژانس آورده شده است.

  • سابقه استفراغ از 2 روز پيش مي دهد.


به جز معاینات معمول به چه نکات دیگری توجه می کنید ؟







در آزمايشات ارسالي : ضرورت دارد؟

  • BS=4 , K=6.2 , Na=126 و متابولیک اسیدوزیس دارد .




  • محتملترین تشخیص چیست ؟ تخمدان دیده شد .

    (نوزاد دختر با علایم افزایش اندروژن ، هیپرپیگمانتاسیون ، اختلالات الکترولیتی و شوک )


Etiology of 46xx dsd1
Etiology of 46xx DSD تخمدان دیده شد .

  • A : Androgen Excess

  • Congenital adrenal hyperplasia

  • Aromatase deficiency

  • Glucocorticoid receptor gene mutation

  • Maternal source ( virilizing tumors e.g. luteoma)

  • Androgenic drugs (progestron , testosterone , …)


Congenital adrenal hyperplasia
Congenital adrenal hyperplasia تخمدان دیده شد .

  • 21-Hydroxylase deficiency ( salt wasting)

  • 11 Hydroxylase deficiency

  • 3BHSD deficiency ( salt wasting)

  • POR deficiency




Case 2
Case 2 تخمدان دیده شد .

  • دختر 14 ساله ای به علت تاخیر بلوغ مراجعه کرده است .

  • از بدو تولد کلیتورومگالی داشته که پیگیری نکرده است .







  • آزمایشات ارسالی : تخمدانی بزرگ در دو طرف گزارش شده است .

  • Na = NL

  • K = NL

  • Cortisol = NL

  • 17OHP = NL

  • Testosterone = high

  • Androstenedione = high

  • Estradiol = low


  • تشخیص چیست ؟ تخمدانی بزرگ در دو طرف گزارش شده است .

  • (دختر با تاخیر بلوغ و علائم افزایش اندروژن ، کیستهای تخمدانی، سطح آندروژن بالا و استروژن پائین ، افزایش اندروژن در مادر در دوران بارداری)


Etiology of 46xx dsd2
Etiology of 46xx DSD تخمدانی بزرگ در دو طرف گزارش شده است .

  • A : Androgen Excess

  • Congenital adrenal hyperplasia

  • Aromatase deficiency

  • Glucocorticoid receptor gene mutation

  • Maternal source ( virilizing tumors e.g. luteoma)

  • Androgenic drugs (progestron , testosterone , …)


Aromatase deficiency
Aromatase تخمدانی بزرگ در دو طرف گزارش شده است . deficiency

  • Virilization since birth

  • Further virilization after birth

  • Ovarian failure to synthesize estrogen

  • Maternal serum levels of estrogen : very low

  • Serum levels of androgens : high


Aromatase deficiency1
Aromatase تخمدانی بزرگ در دو طرف گزارش شده است . deficiency

  • Large ovarian cysts bilaterally in ultrasonography.

  • Tall stature

  • Delay bone age


Case 3
Case 3 تخمدانی بزرگ در دو طرف گزارش شده است .

  • شیرخوار 3ماهه ای را به دلیل ژنیتالیا مبهم به درمانگاه غدد آورده اند.






  • آزمایشات ارسالی : ویریلیزاسیون در زمان حاملگی نمی دهد.

  • Na = NL

  • K = LOW

  • Cortisol = high

  • ACTH = high

  • Testosterone = high



  • تشخیص چیست ؟ ، دخترانه گزارش شد.

    (نوزاد دختر با ژنیتالیا مبهم ، فشارخون بالا ،

    پتاسیم پائین ، کورتیزول و ACTH بالا)


Etiology of 46xx dsd3
Etiology of 46xx DSD ، دخترانه گزارش شد.

  • A : Androgen Excess

  • Congenital adrenal hyperplasia

  • Aromatase deficiency

  • Glucocorticoid receptor gene mutation

  • Maternal source ( virilizing tumors e.g. luteoma)

  • Androgenic drugs (progestron , testosterone , …)


Glucocorticoid receptor gene mutation
Glucocorticoid ، دخترانه گزارش شد. receptor gene mutation

  • Mutation in the GR

  • Elevated cortisol levels

  • High ACTH

  • HTN

  • Hypokalemia

  • Elevated levels of adrenal androgens


Etiology of 46xx dsd4
Etiology of 46xx DSD ، دخترانه گزارش شد.

  • B : Disorders of ovary development

  • Gonadaldysgenesis ( Turner syndrome & ….)

  • Ovotesticular DSD ( True hermaphrodism )

  • Testicular DSD ( 46, xx males )


Etiology of 46xx dsd5
Etiology of 46xx DSD ، دخترانه گزارش شد.

  • C : Other condition

  • Associated with GU and GI tract defects ( Mayer Rokitansky ,…. )


با تشکر ، دخترانه گزارش شد.


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