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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

Dr. HashemiPediatric EndocrinologistAssistant 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

  • Chromosomal sex

  • Gonadal sex

  • Phenotypic sex

  • Brain sex


Chromosomal sex

  • Chromosomal sex refers to the karyotype

  • (46,XX, 46,XY )


Gonadal Sex

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


Gonadal Sex

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


Testis Determination

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


Ovarian Development

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

  • DAX1

  • WNT4

  • RSPO1


Phenotypic Sex

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


Female Sexual Differentiation


Phenotypic Sex Female Sexual Differentiationinternal genitalia

  • Mllerian structures persist to form:

  • Fallopian tubes

  • Uterus

  • Upper portion of the vagina.


Phenotypic Sex Female Sexual Differentiationinternal genitalia

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


Phenotypic Sex Female Sexual Differentiationexternal genitalia


Disorders of Sex Development


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

  • 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

Sex Chromosome DSD

46,XY DSD

46,XX DSD


46,XX 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

  • 3 Poor feeding .

  • 2 .



  • .


  • .

  • .



  • .

  • .



:

  • BS=4 , K=6.2 , Na=126 .



  • .


  • ( )


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 , )


Congenital adrenal hyperplasia

  • 21-Hydroxylase deficiency ( salt wasting)

  • 11 Hydroxylase deficiency

  • 3BHSD deficiency ( salt wasting)

  • POR deficiency



  • :

    Testosterone = high

    17 OHP = high

    DHEAS = NL

    Cortisol = low


Case 2

  • 14 .

  • .



  • : 171 ( 95)

  • :

  • .

  • .


  • .


  • .



  • :

  • Na = NL

  • K = NL

  • Cortisol = NL

  • 17OHP = NL

  • Testosterone = high

  • Androstenedione = high

  • Estradiol = low


  • ( )


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 , )


Aromatase 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 deficiency

  • Large ovarian cysts bilaterally in ultrasonography.

  • Tall stature

  • Delay bone age


Case 3

  • 3 .


  • 130/95.

  • .

  • .



  • .



  • :

  • Na = NL

  • K = LOW

  • Cortisol = high

  • ACTH = high

  • Testosterone = high


  • .


  • (

    ACTH )


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 , )


Glucocorticoid receptor gene mutation

  • Mutation in the GR

  • Elevated cortisol levels

  • High ACTH

  • HTN

  • Hypokalemia

  • Elevated levels of adrenal androgens


Etiology of 46xx DSD

  • B : Disorders of ovary development

  • Gonadaldysgenesis ( Turner syndrome & .)

  • Ovotesticular DSD ( True hermaphrodism )

  • Testicular DSD ( 46, xx males )


Etiology of 46xx DSD

  • C : Other condition

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



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