objective
Recognize sexualdifferentiation
Know the role of sex chromosome in sexual
differentiation .
To know the normal phases of female puberty
Recognize the causes of abnormal puberty
3.
Sexual differentiation
Theembryo differentiates into female or male through
the sex chromosomes .
Sex chromosomes XY is a male and XX is a female.
Gonadal sex is the differentiation of either ovaries or
testes .
Subsequent development of the internal and external
genitalia give phenotypic sex .
4.
In thepresence of Y chromosome the undifferentiated
gonad will become a testis .
Absence of Y chromosome will result in the
development of the ovaries .
We need at least one X chromosome for embryo
development .
The testis produce androgen and mullerian inhibitor
5.
The undifferentiatedembryo contain both Wolffian and
Mullerian ducts .
Wolffian duct will develop the male internal organs .
Mullerian duct will develop female internal organs .
The leydig cell produces testosterone that promotes the
development of the Wolffian duct will lead to vas
deferens, epididymis and the seminal vesicles
6.
Dihydrotestosterone actson the cloaca to form the
penis and the scrotum .
Absence of the testosterone means the wolffian duct
will regress and the cloaca will be an external female
genitalia
7.
NORMAL PUBERTY
Ithappens as the result of the maturation of the
hypothalamo pitutary ovarian axis .
The gonadotrophin releasing hormones is produced and
the gonadotrophin FSH and LH will increase in
frequency and amplitude .
This will lead to full establishment of the normal
ovulatory menstrual cycle .
Puberty occurs over a period of 5 to 10 years
8.
Physiology of puberty
This is result in the physical changes resulting in female
adult life in these sequences .
Growth spurts .
Breast development .
Pubic hair growth .
Menarche .
Finally axillary hair growth .
This sequences occurs in 70% of female and variation
may happens .
9.
Growth spurtsstarts at the age of 11
6-10 cm per year .
By the age of 15 most girl will achieve their final height.
Menstrual cycles in the region between 9 and 16 and
usually are irregular because of the immaturity of the
axis .
10.
PRECOCIOUS PUBERTY
Pubertybefore the age of 9 years .
Causes.
Idiopathic .
MaCune Albright syndrome.
Tumor of adrenal and ovary producing hormones.
Cerebral tumor.
Ingestion of exogenous estrogens.
11.
The commonestcause is simply is premature maturation
of hypothalamus and production of the gonadotropin
releasing hormones.
This can be treated with gonadotropin releasing
hormones agonist GnRHa .
But other serous causes should be excluded like brain
tumor
12.
Delayed puberty
Mostlypatient come because of delay in the
menstruation .
It is important to establish whether puberty itself is
delayed.
Detailed history is taken about other secondary sexual
characters.
Exclude chronic illness .
Family history.
13.
INVESTIGATIONS
Gonadotropins levelFSH and LH .
Karyotyping .
Pelvic ultrasound to confirm the presence of the uterus
and ovaries .
Possibly X- ray to determine bone age.
Other like thyroid function test prolactin and 17-alpha-
hydroxy-progesterone .
14.
Hypogonadotropic
hypogonadism
Majority isconstitutional delay in puberty.
May be secondary to chronic illness and improvement of
underlying condition is the treatment.
Anorexia nervosa at young age have low levels of
gonadotrophin .
Athletic girls .
Congenital deficiency of gonadotropin with hypoplasia
of olfactory lobe Kallman syndrome
15.
Acquired damageto hypothalamus and pituitary by
tumor, trauma ,infection , radiation , secondary to
hydrocephalus and hemochromatosis due to repeated
transfusion in sickle cell disease , thalassemia and
willson disease .
In all cases the ultrasound will confirm the immature
uterus and small inactive ovaries,
16.
Most girlswith constitutional delay will proceed to
normal development if left untreated.
Otherwise treatment is replacement with gonadotropin
or estrogen and progesterone .
17.
Hypergonadotropic
hypogonadism
Failure ofgonadal development.
No negative feed back from the gonads .
Commonest cause is Turner syndrome 45xo .
Damage to the ovaries by infection , irradiation,
chemotherapy, or surgery .
Autoimmune disease such as Adison , vitiligo, and
hypothyroidism.
18.
Turner syndrome.
Features.
Wide carrying angle of the arms .
Webbed neck .
Broad chest and widely spaced nipples .
May have color blindness, co-arctation of the aorta .
Streak ovaries and may be a small uterus.
19.
Treatment byhormone replacement therapy estrogen
and progesterone.
Gonadal causes carries a bad prognosis for pregnanacy .
20.
Anatomical causes,
Normal puberty but no menstrual cycle .
Imperforate hymen or transverse vaginal septum.
1-They present with amenorrhea ,cyclical pain and
sometime retention of urine .
Treat with incision of the hymen or the septum .
2- mullarian agenesis , no uterus ,fallopian tubes and
vagina.
Exclude urinary tract anomalies.
21.
Androgen insensitivity
syndrome
Normalbreast but scanty or absent pubic hair.
This is due androgen insensitivity syndrome .
The karyotype ( genotype) is XY and phenotype is a
female .
They have testes .
There is no uterus, fallopian tubes, and upper two third
of the vagina.
22.
Management .
The patient is brought up as a female .
Remove the testes because of the risk of malignant
transformation .
Start hormonal replacement therapy .
Create a vagina for satisfactory sexual intercourse .
23.
Abnormal uterinebleeding .
Is common after the menarche .
Mainly due the un-ovulatory cycles .
In case of menorrhagia treat if it is affecting the general
condition of the patient .
Exclude other blood diseases hemophilia and
Vonwillibrand disease .
Oligo menorrhea reassure the patient .
It is usually improve spontaneously with time .