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Somatosexual defects

Hermafroditismus

verus

Somatosexual defects - overview1. Conditions with structural or numeric abnormalities

of sex chromosomes X and Y.

2. Defects of reproductive organs differentiation caused by congenital enzymatic malfunctions at testosterone biosynthesis and complete or incomplete nonsensitivity of target organs for androgens.

3. Conditions with normal karyotype and various defect of reproductive organs of unknown origin.

4. Defects of reproductive organs development connected with other malformations as a part of malformations units.

Numeric defects

Structural defects

Cell division

Gonads development

Structural aberrations of Y chromosome

- deletions of Y chromosome

- inversion of Y chromosome

- ring Y chromosome

Cytogenetic of Y chromosome

A. Apparent defects of external genital development

1. Female pseudohermafrodismuskaryotype 46, XX, present ovaries, virilisation of external genital organs

a) congenital adrenal hyperplasia

b) increased level of androgens or progesterone at mother in pregnancy, leading to virilisation of external genital organs at fetus

c) localised malformations

Adrenogenitalsyndrome

Adrenogenitalsyndrome

Adrenogenitalsyndrome

A. Apparent defects of external genital development

1. Female pseudohermafrodismuskaryotype 46, XX, present ovaries, virilisation of external genital organs

a) congenital adrenal hyperplasia

b) increased level of androgens or progesterone at mother in pregnancy, leading to virilisation of external genital organs at fetus

c) localised malformations

2. Male pseudohermafroditismkaryotype 46, XY, present testes, external genital organs development defects

a) congenital enzymatic defects

(17-alfahydroxylase, 17-ketosteroid reductase, 5-alfareductase)

b) incomplete testicular feminisation

c) isolated localised malformations, or as a part of syndromologic units

d) mozaicism of Turner‘s sy with karyotype 46,XY/45,X

Pseudohermafroditismus masculinus

46,XY

A. Somatosexual defects, visible mostly till in puberty

Female hypogonadismus1. Hypogonadotropic hypogonadism

a) Deficit of gonadotrofins – isolated or of secondary origin b) Hypopituitarism

2. Hypergonadotropic hypogonadism

a) Turner’s syndrome

b) Gonadal dysgenesis with karyotype 46, XX or 46, XY

c) Agonady

Typical m. Turner’s karyotype

No clin. dg age karyotype

1.Sy Turner <1 45,X

2.- „ - <1 45,X

3.- „ - <1 45,X

4.- „ - 6 45,X

5.- „ - 8 45,X

6.- „ - 13 45,X

7.- „ - 17 45,X

8. - „ - 31 45,X

9.- „ - 19 46,XXp-

10. - „ - <1 45,X/46,XX

11.Sy Turner <1 45,X/46,XX

12.- „ - 10 45,X/46,XX

13.- „ - 11 45,X/46,XX

14. - „ - 17 45,X/46,XX

15.- „ - 21 45,X/46,XX

16.- „ - 27 45,X/46,XX

17.gonad. dysgenesis 16 46,XY

18.- „ - 16 47,XXY

19.- „ - 22 46,XY/46,XX

20.- „ - 29

46,XY/47,XXY

No clin. dg age karyotype

Chrom. pictures at suspition for m. Turner

Turner’s syndrome

45,X

Turner’s syndrome - 45,X

A. Somatosexual defects, visible mostly till in puberty

Female hypogonadismus1. Hypogonadotropic hypogonadism

a) Deficit of gonadotrofins – isolated or of secondary origin b) Hypopituitarism

2. Hypergonadotropic hypogonadism

a) Turner’s syndrome

b) Gonadal dysgenesis with karyotype 46, XX or 46, XY

c) Agonady

Gonadal dysgenesis

Gonadal dysgenesis

Male hypogonadism

1. Hypogonadotropic hypogonadism

a) Deficit of gonadotropins – isolated orof secondary origin

b) Hypopituitarism

c) Syndromes of multiplies malformations

2. Hypergonadotropic hypogonadism

a) Klinefelter’s syndrome

b) Mosaic 45, X/46, XY

c) Reifenstein‘s syndromehypospady, hypogonadism, gynekomasty

d) Bilat. anorchy

e) Aplasy of germinal cells

f) Acquired disorders (mumps, radiation) leading to the gonads harm

Klinefelter’s syndrome

47,XXY

Klinefelter‘s syndrome - 47,XXY

Typical karyotype m. Klinefelter

Nclin. dg age karyotype

1. hypogonadism 13 47,XXY

2.- „ - 16 47,XXY

3.- „ - 17 47,XXY

4.- „

-5 47,XXY/46,XY

5.- „ - 14 47,XXY/46,XY

6.- „ - 16 47,XXY/46,XY

7.- „ - 14 46,XY,t(3;8)

(qter;gl,2)

8.hypergonadotropichypogonadism

15 47,XYY

9. agenesis of testes 1 46,XX

10- „ - 1 46,XX

Chrom. pictures at suspition for m. Klinefelter

Other polymalformation syndromes

Superfemale sy– 47,XXX (nX)

Supermale sy– 47,XYY (nY)

Real hermafrodism – 46,XY/46,XX

Hermafroditismus verus