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SEX CHROMOSOMES ANOMALIES

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Presentation on theme: "SEX CHROMOSOMES ANOMALIES"— Presentation transcript:

1 SEX CHROMOSOMES ANOMALIES

2 SEX CHROMOSOMES ANOMALIES
45,X (Turner syndrome) 47,XXX (XXX female) 47,XXY (Klinefelter syndrome) 47,XYY (YY male) Other polygonosomies

3 TURNER syndrome Chromosomal nomenclature: 45,X Frequency
In 99% of the cases: miscarriage during the first trimester or IUFD 1/2500 female newborns Parental age: no increased risk

4 TURNER syndrome CLINIC Prenatal period IUGR
Thickened nuchal translucency Other abnormal echographic features

5 TURNER syndrome

6

7 TURNER syndrome At birth Bonnevie-Ullrich syndrome
1. Short stature (mean 46 cm) 2. Edema with puffy extremities 3. Thickened neck Complete in 30% of the cases Incomplete in 70% of the cases

8 TURNER syndrome Post-natal period
Variable phenotype in term of severity 1. Short stature (98%) Present at birth Worse during childhood (no or delayed puberty) Mean adult height without any ttt 1,42 m

9 TURNER syndrome 2. Gonadal dysgenesis
Atrophy of the gonads: streak gonads Without any ttt: no development of the secondary sexual characteristics Primary amenorrhea

10 TURNER syndrome 3. Congenital malformations
Congenital heart defect in 30% of the cases: coarctation of the aorta (stenosis of the aorta) Renal malformation in 50% of the cases: horseshoe kidney, duplicated kidney, renal agenesis

11 TURNER syndrome 4. Other features
Internal genitalia present but hypoplastic Spontaneous puberty not exceptional (10 à 15% of the cases) Sterility most of the time Hypo or hyperthyroidy Obesity

12 TURNER syndrome 4. Other features Pterygium colli Naevi
No or mild facial dysmorphism

13 TURNER syndrome 4. Other features

14 TURNER syndrome 4. Other features

15 TURNER syndrome 5. Intelligence Within the normal range
Increased risk of delayed milestones (speech, walk…) Differences in social cognition ? shyness, immaturity…

16 TURNER syndrome CYTOGENETIC
55%: 45,X (pat post zygotic mitotic origin) 20% mosaic Error in meiosis 3O% structural anomalies

17 Isochromosome: i(Xq)

18 TURNER syndrome Clinical management
Treatment with growth hormone + 10 cm Estrogen replacement therapy: normal puberty and sexual life

19 Klinefelter syndrome Male phenotype 47,XXY
The most frequent sex chromosome aneuploidy 1/500 (XXY) male newborns

20 Klinefelter syndrome

21 Klinefelter syndrome CLINIC At birth: normal phenotype
During childhood Short penis, hypospadias Cryptorchidism Learning disability Delayed milestones Sometimes ? abnormal behavior

22 Klinefelter syndrome Adolescence Adult Absence or delayed puberty
Gynecomastia (breast enlargement) Small testes Adult Sterility: azoospermia with sclerohyalinosis of the semineferous tubes Breast cancer ..

23 Gynecomastia

24

25 Klinefelter syndrome Clinical management
Testosterone replacement therapy before puberty No gynecomastia Better behavior and skills Orthophony ….

26 Females with 47,XXX 1/1000 of the female newborns
maternal non disjunction in meiosis (90%) normal female phenotype (with increased stature) Normal puberty and fertility Intelligence Delayed milestones → early treatment Reduction of points in intellectual skills

27 Males with 47,XYY 1/1000 of the male newborns
Normal male phenotype (with increased stature) Normal puberty and fertility Intelligence Normal Sometimes impulsive behavior

28 5p monosomy: cri du chat disorder
Clinical diagnosis at birth Cat-like cry Microcephaly Round and flat face Hypertelorism Rare congenital malformations Extremely severe encephalopathy Long term life

29 5p monosomy: cri du chat disorder
Cytogenetic de novo deletion in 90% of the cases Rare unbalanced reciprocal translocation

30

31 You are following a 14 years old girl with a puberty delay and a short stature (- 3 SD).
Which diagnosis will you suggest ? Which exam will you ask ? Which gene explains the short stature ? Which genetic counseling will you deliver to the couple ?

32 You are following a 14 years old girl with a puberty delay and a short stature (- 3 SD) without any other features. Which diagnosis will you suggest ?

33 TURNER syndrome Post-natal period
Variable phenotype in term of severity 1. Short stature (98%) Present at birth Worse during childhood (no or delayed puberty) Mean adult height without any ttt 1,42 m

34 TURNER syndrome 2. Gonadal dysgenesis
Atrophy of the gonads: streak gonads Without any ttt: no development of the secondary sexual characteristics Primary amenorrhea

35 TURNER syndrome 3. Congenital malformations
Congenital heart defect in 30% of the cases: coarctation of the aorta (stenosis of the aorta) Renal malformation in 50% of the cases: horseshoe kidney, duplicated kidney, renal agenesis

36 TURNER syndrome 4. Other features
Internal genitalia present but hypoplastic Spontaneous puberty not exceptional (10 à 15% of the cases) Sterility most of the time Hypo or hyperthyroidy Obesity

37 TURNER syndrome 4. Other features Pterygium colli Naevi
No or mild facial dysmorphism

38 TURNER syndrome 4. Other features

39 TURNER syndrome 4. Other features

40 TURNER syndrome 5. Intelligence Within the normal range
Increased risk of delayed milestones (speech, walk…) Differences in social cognition ? shyness, immaturity…

41 You are following a 14 years old girl with a puberty delay and a short stature (- 3 SD).
Which diagnosis will you suggest ? Which exam will you ask ?

42 TURNER syndrome Karyotyping
55%: 45,X (pat post zygotic mitotic origin) 20% mosaic Error in meiosis 3O% structural anomalies

43 You are following a 14 years old girl with a puberty delay and a short stature (- 3 SD).
Which diagnosis will you suggest ? Which exam will you ask ? Which gene explains the short stature ? The SHOX gene located on the pseudo-autosomal region

44 PAR: pseudo-autosomal region(s)
GSISX, STS, KAL1 PGPL, SHOX, ANT3, ASTML, Tramp, MIC2, XG ZFX, EIF2 UBE1, TIMP1, UTX, SMCX/XE169X XIST, RPS4X IL9R

45 You are following a 14 years old girl with a puberty delay and a short stature (- 3 SD).
Which diagnosis will you suggest ? Which exam will you ask ? Which gene explains the short stature ? Which genetic counseling will you deliver to the couple ? There is no increased risk with the parental age. The recurrence risk is low.

46 You are following a pregnant woman who is at 11 weeks gestation
You are following a pregnant woman who is at 11 weeks gestation. The ultrasound examination shows a thick nuchal translucency (6 mm). Which exam will you ask for ? Which result are you expecting ?

47 You are following a pregnant woman who is at 11 weeks gestation
You are following a pregnant woman who is at 11 weeks gestation. The ultrasound examination shows a thick nuchal translucency (6 mm). Which exam will you ask for ? Which result are you expecting ? Standard karyotyping performed following a chorionic villus sample. 11-13 WG

48 Chorionic villus sample
Miscarriage : 1-3 % Risk of infection Short term culture : h Long term culture : 2-3 weeks

49 You are following a pregnant woman who is at 11 weeks gestation
You are following a pregnant woman who is at 11 weeks gestation. The ultrasound examination shows a thick nuchal translucency (6 mm). Which exam will you ask for ? Which result are you expecting ? Standard karyotyping performed following a chorionic villus sample. We expect a chromosomal anomaly, such as a Down syndrome or a Turner syndrome

50 You are following a pregnant woman who is at 11 weeks gestation
You are following a pregnant woman who is at 11 weeks gestation. The ultrasound examination shows a thick nuchal translucency (6 mm). Which exam will you ask for ? Which result are you expecting ? Karyotyping shows a Turner syndrome. The couple decide to continue the pregnancy. What could be the clinical presentation of the newborn ? Please, detail.

51 TURNER syndrome Chromosomal nomenclature: 45,X Frequency
In 99% of the cases: miscarriage during the first trimester or IUFD 1/2500 female newborns Parental age: no increased risk

52 TURNER syndrome CLINIC Prenatal period IUGR
Thickened nuchal translucency Other abnormal echographic features

53 TURNER syndrome

54

55 TURNER syndrome At birth Bonnevie-Ullrich syndrome
1. Short stature (mean 46 cm) 2. Edema with puffy extremities 3. Thickened neck Complete in 30% of the cases Incomplete in 70% of the cases


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