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