Genital tract development and Puberty & their disorders

1. GENITAL TRACT
DEVELOPMENT AND PUBERTY
& THEIR DISORDERS

2. EMBRYOLOGY OF
GENITOURINARYTRACT

4.  Mullerian duct = paramesonephric duct= female internal genital
tract
 Wolffian duct = mesonephric duct = male internal genital system
 Genital ridge : gives the gonads (ovary and testes )

5. MULLERIAN AND WOLFFIAN
PRODUCTS

6. DEVELOPMENTAL DEFECTS

7. DEVELOPMENTAL DEFECTS

8. PUBERTY DEFINITION :
Physical (secondary sexual characteristics and menstruation) ,
emotional, psychological, behavioral and sexual changes that
lead to development of an adult aspect
As puberty begins, the arcuate nucleus begins to secrete GnRH
in a pulsatile manner….. Stimulate LH , FSH …. Release
oestrogen and other ovarian hormones

9. PHYSICAL CHANGES
›Growth spurt
At puberty, peck growth velocity of 10cm/year, and will gain
approximately 25cm of growth during puberty
GH and oestrogen play a major role
›Breast development
Begins at age of 9 , takes 5 years for full development
›Pubic and axillary hair development
The secretion of androgen begins to rise at around the age of 6
(adrenarche) and continues to rise until the age of 12 years
›Menarche: the first menstrual cycle , around 13 , anovulatory
at the beginning

10. PRECOCIOUS
PUBERTY

11. PRECOCIOUS PUBERTY
The onset of secondary sexual characteristics prior
to the age of 8 years
95 % idiopathic

12. CAUSES
Central :
early activation of hypothalamus-pituitary
ovarian axis
Includes :
Idiopathic (most common)
Familial
Brain tumors , trauma , infections

13. Peripheral (less common )
 excess sex hormones including:
Androgen secretion from virilizing adrenal tumour
Late onset CAH
Oestrogen and androgen secreting tumor (arrhenoblastoma ,
germ cell tumors , granulosa cell tumors )
Ingestion of exogenous hormones
McCune-Albright syndrome (polyostotic fibrous dysplasia), café-
au-lait spots, precocious puberty

14. INVESTIGATIONS:
Estradiol : elevated
Testosterone : if markedly elevated would
suggest androgen secreting tumour
Pelvic US : if adrenal tumour is suspected
Brain MRI : to exclude brain tumors

15. TREATMENT
GNRH agonist : until the age of 12
Surgical treatment for tumors
aromatase inhibitor (letrazole, anastrazole ) if
McCune-Albright syndrome

16. DELAYED
PUBERTY

17. girls are considered to have delayed puberty if they lack breast
development by age 13 or have not started menstruating by
age 16
50% constitutional delay (genetically based)

18. ASSESSMENT AND CAUSES
Assess secondary sexual characteristic
Assess stature
Assess hormones level

19. NORMAL SECONDARY SEXUAL
CHARACTERISTICS
 Imperforate hymen
 Transverse vaginal septum
 Absent vagina and functioning uterus
 Absent vagina and non-functioning uterus
 XY female – androgen insensitivity
 Resistant ovary syndrome
 Constitutional delay

20.  Secondary sexual characteristics absent
Hypogonadotropic hypogonadism
o Congenital
 Kalman's syndrome (anosmia)
o Acquired
 Weight loss/anorexia
 Excessive exercise
 Hyperprolactinemia
Normal stature
Low FSH, LH, ESTROGEN

21. NORMAL STATURE
HIGH FSH, LH
LOW ESTROGEN
Hypergonadotropic hypogonadism
o Gonadal agenesis
o Gonadal dysgenesis
o Premature Ovarian failure
o Galactosemic

22. Hypogonadotropic
hypogonadism
o Congenital
 Hydrocephalus
 Empty sella syndrome
o Acquired
 Trauma
 Tumors(The most common
is craniopharyngioma)
Hypergonadotrophic
hypogonadism
o Turner syndrome
Short stature

23. ABNORMAL SECONDARY
SEXUAL CHARACTERISTIC
 Congenital adrenal hyperplasia
 Androgen-secreting tumour
 5α-Reductase deficiency
 Partial androgen receptor deficiency
 True hermaphrodite
 Absent Müllerian inhibitor

24. IMPERFORATE HYMEN
Cyclic pain with primary amenorrhea
Hematometra (blood accumulates in the uterus )
Hematocolpos (blood accumulates in the vagina )
May lead to urinary retention or frequency (pressure ) , pelvic plugging
observation of the introitus will display a tense bulging bluish
membrane which is the hymen.

25. THE MEYER-ROKITANSKY-KUSTER-
HAUSER SYNDROME
This is the second most common cause of primary amenorrhea (the first
is ovarian dysgenesis ; turner syndrome )
Secondary sexual characteristics are normal expected
ovarian function is unaffected (normal LH ,FSH, estrogen)
Short vagina and absent or rudimentary uterus
Normal karyotype (XX )
40 % associated renal anomalies , skeletal anomalies may coexist

26. ANDROGEN INSENSITIVITY
structural abnormality with the androgen receptor which results in a
non-functional receptor
XY karyotype
female phenotype
Normal stature , normal breast development
Pubic hair is very scanty
The vulva is normal and the vagina is usually short
The uterus and tubes are absent

27. THE OLFACTOGENITAL SYNDROME
KALLMAN SYNDROME
 hypothalamus lacks the ability to produce GnRH
 hypogonadotropic hypogonadism
 The pituitary gland is normal and stimulation with exogenous GnRH
leads to normal release of gonadotrophins.
 This condition arises due to a maldevelopment of neurons in the arcuate
nucleus of the hypothalamus.
 These neurons are derived embryological from the olfactory bulb, and
therefore some patients may also have failure of development of the
ability to smell (anosmia).Kallman syndrome.

28. FUNCTIONAL DELAY
WEIGHT LOSS/ANOREXIA
NERVOSA /EXERCISE
Hypogonadotropic hypogonadism
The growth spurt is not usually influenced by this, but
secondary sexual characteristics are absent with
amenorrhea (primary or secondary )

29. HYPERPROLACTINAEMIA
This is an unusual cause of primary amenorrhoea and
much more commonly seen as a cause of secondary
amenorrhoea
Imaging may reveal an adenoma .
Disturb the pulsatility of GNRH

30. GONADAL AGENESIS
Complete failure of gonadal development
These girls may be either 46XX or 46XY
The 46XX pure gonadal dysgenesis is an autosomal recessive
disorder
They fail to produce any androgen or Müllerian inhibitor
Wolffian structures regress and Müllerian structures persist and
menstruation will occur when oestrogen is administered
The external genitalia reflect normal female phenotype
Height is normal or excessive

31. They fail to produce any androgen or Müllerian inhibitor
Wolffian structures regress and Müllerian structures
persist and menstruation will occur when oestrogen is
administered
The external genitalia reflect normal female phenotype
Height is normal or excessive

32. GONADAL DYSGENESIS
TURNER SYNDROME
The commonest isTurner syndrome, which is a single X
chromosome giving 45X as the karyotype…. Primary
amenorrhea
Maybe mosaic (xo/xx) leads to premature ovarian failure
and secondary amenorrhea (less common )

33. The ovaries in most individuals consist solely of stroma and
are unable to produce estrogen (streak gonads)
There is a normal female phenotype and internal genital
development is also normal
The loss of an X chromosome results in short stature as the
genes for height are on the short arm of the X chromosome

34. THE MOST COMMON CAUSE OF
PRIMARY AMENORRHEA

35. MANAGEMENT
patients with hypogonadotropic hypogonadism: estrogen and progesterone
Patients with an XY dysgenesis or androgen insensitivity should have gonadectomies
performed to avoid malignancy (gonadoblastoma and dysgerminoma )
In MRKH syndrome : vaginal dilation or creation of vagina
In outflow obstruction : surgical treatment to release blood
In hyperprolactinemia : cabergoline , bromocriptine or surgical excision of pituitary
macroadenoma
Patients with turner syndrome : hormone replacement therapy at age of 12