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1. Pathophysiology of pubertal
development disorder syndrome
Name: Dar Shahid Yousuf
Group: 361
IWS

2. Introduction
A puberty disorder is when the process of developing into an
adult doesn’t happen the way it should. Kids can develop early,
called precocious puberty, or late, called delayed puberty.
Puberty disorders can involve problems with hormone
production, nutrition, tumors, brain injury or genetic disorders
passed along in families.
Pubertal Development Disorder Syndrome (PDDS) is a rare
condition that affects the normal timing of puberty. This disorder
can cause physical and emotional problems for affected
individuals. The pathophysiology of PDDS is complex and
involves the disruption of the hypothalamic-pituitary-gonadal axis
(HPGA), which is responsible for regulating puberty.

3. Puberty
•Physiological transition from childhood to
reproductive maturity
• Associated with:
– Growth spurt
– Appearance of both primary and secondary
sexual characteristics in children
– Occurs between 8 and 13 yrs in girls
– Occurs between 9 and 14yrs in boys

5. Puberty: Influencing Factors
•Genetics: 50-80% of variation in pubertal
Timing.
• Environmental factors: nutritional status,
environmental hormonal disruptors ( for
example usage of plastics, nylon or food
products rich with estrogen.
• Obesity: as obese children tend to have
earlier puberty as their adipose tissues
produces Leptin peptide which has
stimulating effects on the hypothalamus.

6. • •

7. Puberty in Girls
Sexual Changes
- Shy and Isolated
- Breast enlargement
-Menstrual cycles
Psychological
Changes
- Very Sensitive
Somatic
Changes
- Acne and oily skin
- Increase body fat
in feminine areas
- Widening of pelvis
- Pubic and auxiliary hair growth
- Growth spurt
Increase Carrying angle

8. Secondary sexual Changes
• 5 stages from childhood to full maturity
described by Dr. Tanner (British citizen).
• Stage 1 is prepubertal, while stage 5 is full
adult.
• In females; 5 stages for breast development
and another 5 stages for Pubic hair.
• In males; 5 stages for genital development and
another 5 stages for Pubic hair.
• Secondary sexual characteristics
– starting age 8– 13 yrs in girls
– starting age 9 – 14yrs in boys

9. Tanner Stages Females

10. Puberty: Girls
• Breast enlargement (Thelarche) usually first
sign, Often begins unilateral then become in
both sides.
• Second stage is pubic & axillary hair
development (Adrenarche), in addition to
oily skin & hair with Acne ( this stage is
equally happened in both sexes) due to
adrenal androgens.
• Menarche usually 2-3 yrs after breast
development.
• Growth spurt peaks before menarche.

11. Puberty: Girls
Widening of pelvis & carrying angle.
Major increase in bone mineral density.
Increased adipose tissue with typical
female distribution (buttocks, upper thighs
& breast tissues).
 95% of growth happened < menarche
Menarche usually by age 13-14 years.
Increased in muscle bulk but not to same
extent as males.

12. Menarche
 During puberty estradiol levels fluctuate
widely (reflecting successive waves of
follicular development that fail to reach
ovulatory stage)
 Endometrium is affected by estradiol.
 Undergoes cycles of proliferation & regression
until point where withdrawal of estrogen
results in the first menstrual bleed (menarche)
 Increase of only 5% of final height after
menarche

13. Puberty in boys
Sexual
Changes
Testicular
enlargement
Spermatogenesis
Psychological
Changes
Aggressive
Positive self-
image and mood
Somatic
Changes
Growthspurt
Facial, pubic
and auxiliaryhair
growth
Acne and oily skin
Voice change
Widening of
shoulders
Increased muscle
mass
Decreased
adipose
tissue
Gynecomastia(usually
disappearswithin 2 years)

14. Puberty: Boys
 First sign is testicular enlargement (often go
unnoticed ).
 Pre-pubertal testicular volume is 1-3 ml
 Puberty begins when testicular volume is 4ml
and above.
 Penile and scrotal enlargement occur approx
1 yr after testicular enlargement.
 Pubic hair appears at same time.

15. Tanner Stages Males

16. Orchidometer

17. Pubertal Growth Spurt: Boys
 Occurs later than in females by average 2
years.
 Testosterone less of a stimulus to GH
responsiveness than estradiol.
 Testosterone required in larger concentrations
to produce same anabolic effect.
 Greater and later growth spurt in boys.

18. Final adult height
• Puberty usually
completed within 3 - 4
yrs of onset
• Left wrist x-ray to
assess bone age
• Final adult height
results from complete
fusion of epiphyses
– Occurs approx 1-2 yrs
after menarche

19. Precocious Puberty
 In girls, defined as onset of puberty “breast
enlargement” before age of 8 years.
 In boys, defined as onset of puberty testicular
enlargement before age of 9 years.
 5 times more common in girls than boys.

20. Types
 Central, True, GnRH dependent.
 89-98% of cases (major type)
 Peripheral, Pseudo, GnRH Independent.
 10 – 15 % of cases (not major type)
 Isolated Forms:
 Isolated benign Thelarche.
 Isolated benign Adrenarche / Pubarche.

21. Central, True, GnRH dependent
 Result from premature activation of
Hypothalamus-Pituitary-Gonadal axis
 The pulsatile GnRH secretion leads to pulsatile
secretions of LH and FSH with subsequent
release of sex steroids
 Similar to normal mechanism but happened
earlier than expected age

22. Central, True, GnRH dependent
Etiology
„Idiopathic
most girls ( 90 %)
„Secondary
most boys ( 70-80%)

23. Central, True, GnRH dependent
CNS disorders
 Hypothalamic Hamartoma.
 Glioma, Astrocytoma, Craniopharyngioma, Ependymoma,
germinoma.
 CNS radiation therapy.
 Post trauma (surgery).
 Meningitis,encephalitis,Brain abscesses.
 Neurological insult & mental retardation.
 Hydrocephalus.
 Prolonged primary hypothyroidism.

24. Etiology of peripheral type
 Gonadal: McCune-Albright, tumor, cyst.
 Adrenal: non classical congenital adrenal
hyperplasia, tumors.
 Ectopic: hCG secreting tumors:
 Germinoma, Hepatoblastoma.
 Exogenous source of sex hormone
(contraceptive)
 Familial male dependent (Testotoxicosis)

25. Exogenous source of estrogens

26. McCune Albright Syndrome

27. Pubertal Delay
Definition:
 Girls:
 Lack of breast development by age 13 years.
 More than five years between breast growth and
menstrual period.
 Lack of pubic hair by age 14 years.
 Failure to menstruate by age 16 years.
 Boys:
 Lack of testicular enlargement by age 14 years.
 Lack of pubic hair by age 15 years.
 More than five years to complete genital
Enlargement.

28. TYPES
 Two major types:
 Hypogonadotrophic hypogonadism
 Hypothalamic -Pituitary defects
 Hypogonadotrophic hypogonadism
 Gonadal failure

29. Causes of Hypogonadotrophic
Hypogonadism
 Constitutional delay of growth &Puberty.
 Malnutrition.
 Excessive exercise.
 Isolated Gonadotropin deficiency.
 Brain tumors:
 Craniopharyngioma, Astrocytoma, Glioma,
histiocytosis X, germinoma, prolactinoma.
 Iron overload (hemosiderosis)
 GnRH receptor abnormalities.

30. Constitutional delay of Puberty
 Most common cause of pubertal delay.
 Physiological cause.
 Delayed puberty often found in siblings or
parents.
 Diagnosis of exclusion.
 Bone age is delayed & consistent with degree
of pubertal maturation (usually delayed by
2yrs or more.
 Often associated with constitutional short
stature.

31. Hypogonadotrophic hypogonadism
 Rare (~10%)
 Hypothalamic deficiency
 GnRH deficiency - may be isolated or associated
with other features e.g. anosmia (Kallman's
syndrome), cognitive impairment and dysmorphic
features (Prader-Willi syndrome).
 Pituitary deficiency
 Gonadotropin deficiency or more commonly associated
with any form of pan hypopituitarism.

32. Kallman Syndrome
 Syndrome of isolated Gonadotropin
deficiency.
 Present with anosmia or hypo-osmia.
 KAL-1 gene encodes protein (anosmin)
required for GnRH neurons to migrate from
olfactory placode to cribiform plate.
 Associated with harelip, cleft palate, and
congenital deafness

33. Kallman Syndrome

34. Syndromes associated with pubertal delay
 Prader-Willi syndrome.
 Laurence Moon syndrome.
 Septo-optic dysplasia.
 Bardet-Biedl syndrome.

35. Hypergonadotropic Hypogonadism
 Sex chromosome abnormalities:
 Klinefelter's syndrome in boys (47XXY)
 Turner's syndrome in girls (45XO)
 Gonadal dysgenesis with normal Karyotype
 Gonadal damage
 viral (e.g. mumps Orchitis)
 Iatrogenic (surgical, chemotherapy or
radiotherapy)
 Autoimmune destruction(often associated with
other autoimmune disease).
 Gametes generally more sensitive to damage that
steroid secreting cells

36. Klinefelter's syndrome

37. Turner syndrome

39. Chronic illness
 Delay in pubertal development is very
common in the presence of any serious
illness e.g. chronic renal failure, bowel or
liver diseases.
 Progress depends on the course of the
underlying disease.
 Endocrine causes of delay puberty
include hypothyroidism, GH deficiency
and excess glucocorticoid.

40. Conclusion
Disorders of puberty may occur when there is a problem
with the glands responsible for releasing the hormones
responsible for puberty, such as the pituitary gland and
hypothalamus, or when there is a problem with the
reproductive organs themselves. The most common
puberty disorders include precocious (early) puberty and
delayed (late) puberty. The evaluation of puberty
disorders in adolescents may require blood testing,
imaging studies, and sometimes genetic testing to
identify the underlying cause and determine the
proper treatment plan.