This document discusses disorders of sex development, including differences in male and female reproductive system development and the hormones involved. It covers precocious and delayed puberty, as well as several chromosomal and genetic abnormalities that can affect puberty and sexual development, such as Turner syndrome, XY gonadal dysgenesis, and congenital adrenal hyperplasia. The abnormalities are described along with their typical physical features and recommended management approaches.

1. Disorder Of Sex Development
Gaya 

2. Female reproductive system consist of ….
• Tubes
• Uterus Developed from Mullerian ducts
• Vagina
• External genitalia
• Ovaries
Male reproductive sys. Developed from wolfian
ducts .( mesonephric system)
Mullerian ducts ( paramesonephric system )

3. • Male reproductive sys. Developed from wolfian
ducts .( mesonephric system)
• Mullerian ducts ( paramesonephric system )
• Leydig cells in the testis produce testosterone
Sertoli cells in the testis produce antimullerian
hormons which inhibits development of mullerian
sys.

4. • Sexually development and maturation occur in
girls usually the age of 8-9 years.
• During this age hypothalamus starts to
secreting GnRH –its stimulates the pituitary to
secrete gonadotrophins. –gona. Act on the
ovaries to produce folliculogenesis .
• This increase oestrogen levels and brings
physical changes in the body .

5. Physical changes that occurs …
1. Breast development
2. Pubic and axillary hair growth
3. Growth spurt
4. Onset of menstruation (menarche)
Usually menarche occurs around the ages of 12-13
Cycles of first 3-4 years are irregular and
anovulatory.

6. Precocious puberty
Onset if puberty before the age of 8 years
(hormone producing tumours should be considered in
these girls.)
Central precocious puberty (CPP)
is caused due to excess of GnRH ,which susequently
increase the secretion of sex hormones ,LH,FSH.
GnRH analogs are considered drug of choice for cpp
Is cause reversible suppression of reproductive axis and
adult height is preserve in children.

7. Delayed puberty
Secondary sexual characteristics do not occur by
the age of 14 yr. 2 types
1. Hypogonadotrophic hypogonadisum.
2. Hypergonadotrophic hypogonadisum.

8. Hypogonadotropic hypogonadism
• Due to central defect and can be consitutional
(congenital) .
• Other cause are anorexia nervosa, excessive
exercise, chronic illness (diabetic ,renal failure
)
• Rare causes are pituitary tumours and
kalman’s syndrome.

9. Hypergonadotrophic hypogonadism
• Primary ovarian dysfunction occurs despite
high level of pitutary gonadotrophin secretion.
• Turner’s syndrome ( XO )
• Gonadal dysgenesis (XX)
Cause this

10. Chromosomal abnormalities
1.Turner syndrome
Complete or partial absence of one x
chromosome. 45XO
Clinical features –
• Short stature
• Webbing of the neck
• Wide carrying angle
• Coarctation of the aorta

11. • Inflammatory bowel disease
• Conduction deafness
• Renal anomalies
They have very streaky ovaries and do not
produce oestrogen
Present with delayed puberty and primary
amenorrohea.

13. 2.XY gonadal dysgenesis
In spite of having XY chromosome pattern
gonads do not develop in to testis.
There fore due to absent of anti mullerian
hormones vagina, uterus and fallopian tubes
develop.
Person is phenotypically female with a XY
chromosomic pattern .

14. Presented with delayed puberty and
amenorrhea
Dysgenetic gonads have high risk of maligancy
there fore need to surgically
removal,(laparoscopically) then strarted on
oestrogen and progesteron containing
contraceptive pills to induce puberty and
maintain withdrawal bleeding.

15. 3. Androgen insensitivity syndrome
Their chromosomal pattern XY but virilization of
external genitalia does not occur,
Present as women will not have vagina, uterus and
follopian due to AMH which secreting by testis.
Testis are usually in the inguinal canal –hernia can
be happen
They present as puberty with amenorrhea and
delayed puberty .

17. Management-
Removal of gonads
Long –term hormone replacement therapy
Once patient is sexually active neo vaginal will
have to be created

18. 4.Congenital adrenal hyperplasia
Progesterone 21-hydroxylase deoxycorticosterone
this ll lead to reduction in the levels of cortisol
According to negative feedback excessive
production of androgen and testosterone leading to
virilization of external genitalia.
Clitoris is enlarged and libia fuses and appears as a
scrotum.
Some patient get ability to produce aldosterone–
salt losing type

19. Management -
Needs early diagnosis
Life long steroid replacement
With hydrocortisone and fludrocortisone for salt
losers

20. 5. Alpha- reductase deficiency
XY karyotype and normally functioning testis
Due to 5-alpha-reductase testosterone cant
convert to dihydrotestosterone in peripheral
tissue.
Virilization does not occur
Present ambiguous genitalia at birth
In puberty testes. level are extremely high

21. 6.Imperforate hymen
Hymen persist as a membrane
Presented with abdominal pain and primary
amenorrhea
O/E- suprapubic lump which haematometron
and distend vagina(haematocolpos) with
menstrual blood
Vulval examination – budging memebrane at the
entrance to the vagina

22. Management –
Making a cruciate shaped incision in the
membrane and let the blood come out on its
own over next few day

24. 7.Other abnormalities of the mullerian system
(abnormality in vagina and uterus )
congenital-
• Duplication of uterus
• Biconuate uterus
• Double vagina
• Septate uterus
• Mullerian agenesis – absent of uterus and upper vagina
(M.a-treatment –Mclndoe’s operation and william’s vuivo-
vaginoplasty surgery)