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DISORDERS OF SEXUAL DIFFERENTIATION Pathophysiology 4th year Endocrinology Course.

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Presentation on theme: "DISORDERS OF SEXUAL DIFFERENTIATION Pathophysiology 4th year Endocrinology Course."— Presentation transcript:

1 DISORDERS OF SEXUAL DIFFERENTIATION Pathophysiology 4th year Endocrinology Course

2 Sexual differentiation Sequential process beginning with the establishment of chromosomal sex at fertilization, followed by the development of gonadal sex, and culminating in the development of secondary sexual characteristics, collectively termed the male and female phenotypes. 2

3 Disorders of Chromosomal Sex Klinefelter's Syndrome,47,XXY karyotype and a predominantly male phenotype Turner´s syndrome, (45,XO) or mosaicism Normal ovarian development requires the presence of two functionally intact X chromosomes. 3

4 Disorders of Phenotypic Sex I Phenotypic sex is ambiguous or is completely in disagreement with chromosomal and gonadal sex. True hermaphrodites Female Pseudohermaphroditism Male Pseudohermaphroditism Testicular feminization (androgen receptor defects ) 5-  -Reductase Deficiency (responsible for the conversion of testosterone to the potent androgen dihydrotestosterone in peripheral tissues) Testosterone is sufficient for virilization of the wolffian ducts but that dihydrotestosterone is required for differentiation of the prostate and external genitalia. 4

5 Alterations Of Sexual Maturation Delayed Puberty Precocious Puberty 1. Isosexual precocious puberty 2. Heterosexual precocious puberty 3. Incomplete precocious puberty 5

6 Disorders Of The Female Reproductive System I Hormonal and Menstrual Alterations 1.Primary Dysmenorrhea (more than 30% of women between the ages of 15 and 25 are affected) 2. Primary Amenorrhea (lack of menstruation) 3. Secondary Amenorrhea Dysfunctional uterine bleeding Hyperprolactinemia 6

7 Deranged Reproductive Function in Male Adult Reproductive Failure: Infertility in Male 1. The hypothalamic-pituitary defects 2. Testicular disorders 3. Disorders of sperm transport (may be due to antisperm antibodies) 7


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