Reproductive system

Reproductive development
Sex differentiation & development:
Human Chromosomes:
There are 46 chromosomes:
• in males, 22 pairs of autosomes plus an X chromosome and a Y
chromosome
• in females, 22 pairs of autosomes plus two X chromosomes.

- Sex is determined genetically by two chromosomes, called the

sex chromosomes (X and Y).

- Diploid male cells contain an X and a Y chromosome (XY pattern),

whereas female cells contain two X chromosomes (XX pattern).
Human Chromosomes
During gametogenesis, as a consequence of meiosis:
- Each normal ovum contains a single X chromosome
- But half of the normal sperm contain an X chromosome
and half contain a Y chromosome

• When a sperm containing a Y chromosome fertilizes an

ovum, an (XY) pattern results and the zygote develops into
a genetic male
male.

• When fertilization occurs with an X-containing sperm, an

(XX) pattern and a genetic female results.
Embryology of the human reproductive system:
The embryo in the 7th week of gestation has both:
- Male genital duct (wolffian duct)
- Female genital duct (mullerian duct)

The anatomical and physiological differences between male

and females primarily are due to presence or absence of Y
chromosome.
 presence of Y chromosome is necessary and sufficient for
the production of testes. The testes release:
1. Testesterone:
- to increase development of wolffian duct in to epididymis
& vas diferance.
- Converted to dihydrotestesterone, which form the male
external genitalia.
2. Mullerian inhibitory substance (MIS):
cause regression of the mullerian duct.
 in absence of Y chromosome:
- The testes do not developed.
- The ovaries are developed and mullerian duct persists, it
gives the uterus and the uterine tubes.

• The embryonic ovary does not secrete hormones.

Abnormalities of sexual differentiation
1) Chromosomal abnormalities:
• Occur due to non-disjunction (failure of separation) of the
sex chromosomes during gametogenesis.
• Results in formation of abnormal gametes with 22 or 24
chromosomes rather than 23.
• Causing the following abnormalities:
- Turner syndrome
- Klinefelter’s syndrome
- True hermaphroditism
2) Hormonal abnormalities
- Female pseudohermaphroditism
- Male pseudohermaphroditism
Turner syndrome: (ovarian agenesis)
- It occurs due to non-disjunction.
- E.g. when an abnormal sperm (22,O) fertilizes a normal ovum (22,X)
- The developing subject is a female with 45 chromosomes (44,XO).
Features of Turner’s syndrome :
- Female genitalia with absent ovaries
- Failure of maturation at puberty
- Primary amenorrhea
- Short stature
- Broad chest
- Poor breast development
- Webbing of the neck
- Cubitus valgus
- Congenital anomalies
Klinefelter’s syndrome:
- It occurs due to non-disjunction
- E.g. when an abnormal sperm (22,XY) fertilizes a normal ovum (22,X).
- The developing subject is a male with 47 chromosomes (44,XXY)

Features of Klinefelter’s syndrome include:

- Male genitalia with small testicles
- Azospermia (low sperm count) and infertility
- Tall stature
- Gynecomastia
- Mental retardation
True hermaphroditism:
- Due to non-disjunction.
- When an abnormal sperm (22,XY) fertilizes an abnormal
ovum (22,XX).
- The developing subject is a true hermaphrodite with
(44,XX, XY).
- Has both ovaries & testes.
Down syndrome:
- Non-disjunction occurs in chromosomes (21).
- Each cell contains three copies of chromosome 21 rather
than one pair = (trisomy 21).
characterized by:
- mental retardation
- flat nasal bridge
- low set ears
- protruding tongue
- short neck.
- single palmar crease
Female pseudohermaphroditism:
• Genetic female (44,XX) but with external genitalia of
males and internal genitalia of females.
• Due to exposure of the female embryo to androgens in
intrauterine life.
• Sources of androgens:
- Congenital adrenal hyperplasia
Male pseudohermaphroditism:
• Genetic males (44,XY) but with external & internal
genitalia of females.
• due to a defect in the testes during development, resulting
in failure to secrete androgens & MIS.
Puberty:
The period of final maturation.
The period when the endocrine and gametogenic functions
of the gonads have first developed to the point where
reproduction is possible.

The time of puberty:

-is variable according to genetic and environmental factors

- In the United States in recent years, puberty generally

occurs between the ages of (8 – 13) in girls and (9 – 14) in
boys.
Features of puberty:
Are mainly due to secretion of sex hormones:
1. Growth spurt.
2. Development of secondary sexual characteristics.
3. Development of reproductive organs.
4. Attainment of reproductive capacity.
1. Growth spurt:
- Acceleration of somatic growth.
2. secondary sexual characteristics in male:
Depends on testosterone secretion.
Consist of:
- Body conformation:
conformation: broad shoulders & muscle enlarge.
- Voice:
Voice: becomes deep (Larynx enlarges, vocal cords increase in
length and thickness)
- Hair growth
growth::
- Hairline on scalp recedes anterolaterally.
- Beard appears.
hair grows: Pubic, axillas and on chest
- external & internal genitalia:
genitalia:
Enlargement
- Mental:
Mental: (emotional changes)
More aggressive, active attitude.
Interest in opposite sex develops.
Secondary sexual characteristics in female:
Depends on estrogens secretion.
Consist of:
- the first event In girls is thelarche, the development of
breasts.
- followed by pubarche , the development of axillary and
pubic hair
- Configurational changes: broad hips & narrow shoulders.
- Deposition of fat in buttocks and breast.
- The voice remain high pitched.
- Enlargement of external & internal genitalia.
- Adrenarche: increase in the secretion of adrenal androgens
which results in emotional changes.
3. Development of reproductive organs:
There is genital growth in both sexes.
The genitalia increase in size and start to show functional
manifestation.

4. Attainment of reproductive capacity:

In female:
female
Menarche:
- The first menstrual period.
- Is sign of maturation of the ovaries.
- However it dose not mean fertility, since it can take 1 year before
ovulation occure. During this time, cycles are often anovular.
In male:
male:
production of sperm (spermatogenesis).
abnormalities of puberty:
1. Precocious puberty:
Early development of secondary sexual characteristics.
is caused by abnormal exposure of immature males to androgen or
females to estrogen.
• when associated with gametogenesis is called true precocious
puberty.
• without gametogenesis it described as pseudo-puberty.

Causes of true precocious puberty:

- Constitutional (no cause can be determined)
- Hypothalamic tumors or infections
- Developmental abnormality
Causes of precocious pseudo-
pseudo-puberty:
- Adrenal hyperplasia.
- Adrenal tumors.
- Testicular tumors.
- Ovarian tumors.

2. delayed or absent puberty:

puberty cannot be considered to be pathologically delayed until:
the menarche has failed to occur by the age of 17 or
the testicular development by the age of 20.
Causes:
- pan hypopituitarism.
- Patients with the XO chromosomal pattern (Turner syndrome).
- Gonadal dysgenesis (defective development; malformation)