Educational Presentation

1. Pathophysiology of pubertal
development disorder syndrome.
ASHUTOSH SINGH BISEN-361

2. CONTENT
•PUBERTY- DEFN, ONSET, INITIATION
•DISORDER OF
•DELAYED PUBERTY
•PRECOCIOUS PUBERTY
•EVALUATION OF DISORDER
•MANAGEMENT
•CONCLUSION
•REFERENCE

3. Puberty
• PUBERTY IS THE PERIOD DURING WHICH THE
FINAL
MATURATION OF GROWTH AND DEVELOPMENT
OCCURS,
RESULTING IN A PHYSICALLY ADULT, SEXUALLY
MATURE
INDIVIDUAL.
• It is due to physiologic hormonal changes
• These changes are resurgence of mechanisms
which
started during in utero life
• Central focus is augmentation of both frequency
and magnitude of gonadotropin pulsatile secretion

4. ONSET OF
PUBERTY
MALE
• 9.5-14YEARS
• (Mean 11.5-12.5)
• Testicular enlargement ( Vgt4ml or length gt2.5cm)
• Penile growth
• Pubic hair
FEMALE
• 8-13 YEARS
• Breast development
• Pubic hair
• menstruation

5. Pubertal development
disorder syndrome
Pubertal development disorder
syndrome, also known as delayed
puberty, is a condition that affects
the timing of sexual maturation in
adolescents. Puberty is a complex
process that involves the activation
of the hypothalamic-pituitary-
gonadal (HPG) axis, which regulates
the production of sex hormones
such as testosterone and estrogen.

6. DELAYED
PUBERTY
BOYS
• Failure to mature sexually in age- appropriate
fashion
• Delayed onset gt 14yrs
• Failure to complete pubertal develop. Over
normal
3-4 yrs
GIRLS
• IF NO BREAST DEVELOPMENT BY 13YRS
• IF MORE THAN 5YRS BETWEEN BREST DEV. AND
MENARCHE

7. CAUSES OF MALE DELAYED PUBERTY
PRIMARY HYPOGONADISM-
failure of testis to respond
to appropriate pubertal
stimulation
HYPOGONADOTROPISM OR
SECONDARY
HYPOGONADISM-failur
e of appropriate signal to
appear at expected
time
Delayed initiation of
activation( constitutional,
relation to chronic disease
or malnutrition)

8. Primary Hypogonadism
Androgen
enzymatic
synthesis defect
Androgen
insensitivity
syndromes, partial
Anorchia Autoimmunity
Chemotherapy Cryptorchidism Galactosaemia

9. Secondary Hypogonadism
Craniopharyngioma
Granulomatous
disease
Hemosiderosis
Hypothalamic/
pituitary tumours
Idiopathic
hypopituitary
Irradiation
Isolated
FSH/Gonadotropin
deficiency

10. Delayed Initiation
• Anorexia Nervosa
• Chronic systemic illness or treatment
effects
• cardiac
• gastrointestinal- chrons
• Haematologic-SSA
• Malignancy
• Malnutrition
• Pulmonary
• Renal, chronic

11. EVALUATION
• PRIMARY
• Low testosterone, High LH,FSH
• SECONDARY/ DELAYED MATURATION
• Low testosterone, Low LH, FSH
• FURTHER GONADOTROPIN/ GONADAL HORMONE TESTING IS
SELDOM HELPFUL
• GnRH stimulation test and hCG testing yield
similar result in secondary and physiologicaly
delayed.

12. TREATMENT
• Treatment irrespective of cause is TESTOSTERONE
• Stimulates somatic growth and pubertal
stimulation
• Use long acting esters in oil( enanthate or
cyprionate)
• Start with 25-75mg every 4 weeks then increase to
adult replacement dose of 200mg every 2wks
• Begin at usual age of puberty for primary
• In secondary, because of effect on final height,
give in relation to other defects and other
theapy.

13. CAUSES OF
FEMALE
DELAYED
PUBERTY
ALSO COULD BE SUBDIVIDED INTO
HYPERGONADOTROPIC HYPOGONADISM
HYPOGONADOTROPIC HYPOGONADISM
CONSTITUTIONAL DELAY

14. Hypergonadotropic
hypogonadism
• Syndrome of gonadal dysgenesis and its variants
(Turners syndrome)
• Familial or sporadic XX AND XY gonadal dysgenesis
and its variants
• Other forms of primary ovarian failure
• post bilateral oophorectomy, post irradiation
or post chemotherapy, Autoimmune oophoritis,
toxic substances eg galactose and metabolites
• 17-Hydroxylase deficiency

15. Hypogonadotropic hypogonadism
CNS-Hypothalamic/pituitary gland
congenital anomalies, tumors,post
inflammatory, trauma
Idiopathic and genetic forms of multiple
pituitary hormone deficiency
Isolated idiopathic GnRH deficiency
Miscellaneous- LMB, P-W,
Functional gonadotropin deficiency( chronic
systemic dx, anorexia nervosa, hypothyroidism,
strenuous exercise

16. EVALUATION

17. TREATMENT
CONSTITUTIONAL
DELAY
There may not be
need for therapy,
as it
may further
suppress the axis
Therapy may be
given in the
adolescent who
has marked
psychological
disability
Give ethinyl
estradiol 5µg/day
orally give till
Tanner 3

18. Conclusion
Pubertal development disorder syndrome is a complex condition that involves
multiple factors affecting the HPG axis and the production of sex hormones. A
thorough understanding of the pathophysiology of this condition is essential for
effective diagnosis and treatment. Pubertal development disorder syndrome, also
known as delayed puberty, is a condition that affects the timing of sexual maturation
in adolescents. Puberty is a complex process that involves the activation of the
hypothalamic-pituitary-gonadal (HPG) axis, which regulates the production of sex
hormones such as testosterone and estrogen. In delayed puberty, the HPG axis is not
activated properly, leading to a delay in the onset of puberty. This can be caused by
a variety of factors, including genetic abnormalities, hormonal imbalances, chronic
illness, and malnutrition. One of the key hormones involved in pubertal
development is gonadotropin-releasing hormone (GnRH), which is produced by the
hypothalamus. GnRH stimulates the pituitary gland to produce luteinizing hormone
(LH) and follicle-stimulating hormone (FSH), which in turn stimulate the testes or
ovaries to produce testosterone or estrogen, respectively. In delayed puberty, there
may be a deficiency in GnRH production, which can be caused by genetic mutations
or other factors. This leads to decreased production of LH and FSH, which results in
decreased production of sex hormones. Another possible cause of delayed puberty
is hypogonadism, which is a condition where the testes or ovaries do not produce
enough sex hormones. This can be caused by genetic abnormalities, injury,
infection, or radiation therapy. In some cases, delayed puberty may be caused by a
combination of factors, such as genetic mutations that affect both the HPG axis and
the production of sex hormones.

19. Reference
• https://www.slideshare.net/abdu
lmoein/puberty-disorders
• https://www.powershow.com/vie
w2a/423d23-
MDMwM/DISORDERS_OF_PUBE
RTY_powerpoint_ppt_presentati
on
• https://chat.openai.com/chat

20. Thankyou