5 me Congrs de Biologie Mdicale et Mdecine de Laboratoire

18-19 Mai 2015- Standall- Bordj El Kiffan-Alger

CYTOGENETIC ANALYSIS IN
MALE INFERTILE CASES WITH
AZOOSPERMIA IN THE WESTERN
REGION OF ALGERIA, TLEMCEN
R. BELMOKHTAR1, F. BELMOKHTAR1, A. KERFOUF2

(1)

Faculty of Natural and Life Sciences and Sciences of Earth and Universe, Tlemcen University
(2) Faculty of Natural and Life Sciences, Sidi Bel Abbs University

INTRODUCTION

Infertility:
Failure to conceive following 1 year of unprotected
intercourse.
Male infertility 35~40%:
o Azoospermia
o Compromised spermatogenesis
~30% of the 40% male factorscause is
unknown

SPERMATOGENESIS

SPERMATOGENESIS

SEMEN ANALYSIS
Head
- Nucleus
- Acrosome

Middle piece
(Mitochondrion)

Volume / pH

2 - 6 ml / 7,2 - 8,0

Sperm
concentration

> 20x106 /ml

Total sperm
count

> 40106/ejaculate

Motility

> 50% (grade a+b) or >25% (grade a)

Morphology

> 30% normal forms*

> 15%**

Viability

> 75%

White Blood
Cells

< 1106/ml

* WHO, 1992
** Kruger Strict Criteria, 1999

Tail
(Propulsion
of sperm)

MALE INFERTILITY AND GENETICS

Chromosomal abnormalities
o 5.8% incidence of
chromosomal abnormalities1

4.2% sex chromosome

1.5% autosome

Y chromosome microdeletions
(Yq11.2)
CFTR mutation CAVD
(7q.31.2)
Human karyotype
INSERM ALPHA PICT 2000

(1) Johnson,

Fertil Steril 1998

Frequency is inversely
proportional to sperm
concentration.
Most common abnormality
is Klinefelter syndrome
o

Atrophic hyalinized testes

depleted of germ cells

K a ry ty p e a b n ro m a lity (% )

KARYOTYPIC ABNORMALITIES
15
10
5
0

ic mic mic
m
er p er sp er
p
s
s
o
o
o
o
g
m
z
i
l
r
A
O
No
Sharlip et al., Fertil Steril 2002

RESULTS
Sperm Parameters and Hormonal Analysis in Infertile Men
Cases Age Sperm
ID
(year) count

FSH
LH
Testosterone
(mU/ml) (mU/ml)
(ng/ml)

49

AZO

32.3

13.5

2.6

35

AZO

38.6

14.4

2.3

32

AZO

30.4

11.5

9.04

Normal values: FSH: 1.5-12.4 mUI/ml, LH: 1.70-8.60 mUI/ml, testosterone: 2.80-11.5 ng/ml; AZO: Azoospermia

Plasma concentration of FSH and LH was higher in all

azoospermic patients. The lower testosterone level
has also been reported.

CYTOGENETIC ANALYSIS

A total of 22 cases with male infertility were

evaluated retrospectively. Three cases showed
numerical sex chromosomal abnormalities
(03/22, 13.6%). The karyotype abnormality in all
cases is represented by KLINEFELTER
SYNDROME.

KLINEFELTER SYNDROME (KFS)- 47,XXY

Two patients of KFS had

non-mosaic form (47,XXY).

One patient of KFS had

mosaic form(47,XXY/46,XY).

Klinefelter syndrome :
o
o
o

Primary testicular failure

Hypogonadism with testicular hypotrophy
Elevated gonadotropin plasma levels (FSH, LH)

CONCLUSION

Cytogenetic analysis point to a risk of chromosomal

abnormalities in patient with sperm anomalies.

Genetic testing and counselling:

~ inheritance,
~ recurrence risks,
~ natural history of diseases,
~ increased risk for birth defects.

Assisted reproductive techniques.