Hypothyroidism and thyroid screening can be caused by primary or secondary issues. Neonatal screening uses dried blood samples to test TSH levels to detect congenital hypothyroidism. TSH is the most sensitive indicator for primary hypothyroidism. Precocious and delayed puberty can have various causes like tumors, infections, or genetic defects. Puberty is evaluated based on physical signs, lab tests, and sexual maturity ratings which characterize development. Treatment depends on the underlying cause and aims to initiate normal development.

1. ENDOCRINOLOGY
Hypothyroidism and Thyroid screening
Normal, Precocious and Delayed Puberty
Sexual Maturity Rating (SMR)

2. Hypothyroidism and thyroid screening
Primary Secondly
Thyroid (95%) hypothalamus or pituitary, <5%
Autoimmune thyroiditis Malformations
Enzyme defects, Dysgenesis Genetic defects
Iodine deficiency Brain tumors
Thyroid Injury Brain injury

3. Neonatal screening for hypothyroidism
★ Dried blood sample use to screening for congenital
hypothyroidism
★ collected at postnatal age of 2-4 days.
★ TSH levels above 40 mU/L in the first week,
★ 20 mU/L between 7 and 21 day and
★ above 10 mU/L beyond 21 days suggest the need for
treatment.

4. ★Thyroid function is assessed by serum TSH, free
T3 and T4.
★TSH is most sensitive indicator for primary
hypothyroidism but, not helpful in diagnosis of
central hypothyroidism
★T4 level is better indicator of thyroid status than
T3 due to increase conversion of T4 to T3 during
thyroid depleted states.

5. T4 level TSH level
LOW LOW central hypothyroidism
Low High Primary hypothyroidism
Normal Mild elevation
Subclinical
hypothyroidism
Elevated undetectable TSH levels hyperthyroid state

6. Normal, Precocious and Delayed
puberty.
Puberty is a phase of life when secondary
sexual characteristics appear and mature
and capability of reproduction is attained

7. Girls Boys
Puberty start 8 - 12 years
Breast enlargement
(thelarche)
9-14years
Testicular enlargement
development of pubic hair
(pubarche)
pubarche
Onset of menstrual cycles
(menarche)
spermarche
Patterns of Pubertal Development

8. Precocious puberty
Pubertal onset before the age of 8 yrs in girls and 9. 5
yrs in boys is suggestive of precocious puberty
It may be due to
1. Stimulation of the hypothalamic – pituitary axis
( Gonadotropin dependent or central precocious
puberty) .
2. Autonomous sex harmore production
( Gonadotropin independent or peripheral precocious
puberty)

9. Precocious puberty in girls
Precocious puberty is common in girls.
In most of the cases,
Puberty is slowly progressive with no long-term adverse
effects.

10. Gonadotropln-dependent or. Central precocious puberty
Idiopathic: in more than 90%
Tumors:hypothalamic glioma
Infections: Neurotuberculosis, meningitis
Injury: Head trauma, neurosurgery,
Malformation, hydrocephalus
Gonadotropln-lndependent or. peripheral precocious puberty
Hypothyroidism
Ovarian estrogen: McCune-Albright syndrome, cyst, tumor,
Adrenal estrogen: Estrogenic adrenal adenoma
Exogenous estrogen exposure
Incomplete variants
Isolated thelarche
Isolated pubarche
Isolated menarche

11. Clinical Evaluation
History should include
★ Onset , progression and extent of puberty.
★ Exposure to steriods, androgens, estrogens
★ Family history of precocious puberty and early
menarche -these points favour towards idiopathic
central precocious puberty.

12. ★ Growth retardation indicates hypothyroidism Or
GH deficiency.
★ Examination of vaginal mucosa for estrogen effect.
( red, glistening mucosa suggests lack of estrogen,
pink mucosa is indicative of estrogen effect. )
★ Abdominal examination

13. Investigations
1. Gonadotropin levels. LH is better indicator compared
to FSH as, LH levels increase significantly during
puberty. ( LH:FSH >1 suggestive of development of
puberty)
2. Usg of abdomen and pelvis
3. Thyroid function test
4. Advanced bone age
5. MRI of brain

14. Management
Gonadotropin – dependent precocious puberty
1. Medroxy progestroneacetate (MPA)
2 GnRH analogs
Treatment is discontinued at chronological age of 11
yrs and bone age of 12.5 years

15. • Gonadotropin independent precocious puberty
1. Thyroxine replacement reverses the pubertal changes of
hypothyroidism.
2. Treatment of MCCune Albright syndrome,
3. Treatment of ovarian cysts

16. Precocious puberty in boys
Precocious puberty is less common in boys but,
when present is usually associated with
significant pathology.

17. Etiology
Gonadotropln-dependent or central precocious puberty
Idiopathic
Central norvous tumors
lnfectios: Tubercular meningitis
Injury: Head trauma, surgery, radiation
Malformation, hydrocephalus
Gonadotropln-lndependent or peripheral precocious puberty
Congenital adrenal hyperplasia
Adrenal tumors: Adenoma, carcinoma
Testicular tumors: Seminoma, germinoma
Testotoxicosis
Exogenous androgen exposure: Testosterone cream, etc

18. Clinical Evaluation
History should include
★ onset , progression of puberty, neurological features,
★ family history precocious puberty,
★ H/o any androgen exposure.
★ Detailed anthropometric and neurological examination ,
★ Estimation of testicular volume forms an integral part of
assessment. ,
★ Prepubertal volume (less than 4 ) suggest peripheral
precocious puberty
★ unilateral enlargement is seen in testicular tumors.

19. Investigation –
1. LH, FSH, Testosterone levels and bone age.
2. All patients with pubertal LH levels should
undergo visual field examination and MRI of brain.

20. Management
It includes treatment of underlying cause
• GnRH should be continued till age of 12 yr
• CAH is managed with Hydrocortisone and fludro cortisone.
• Surgery is treatment of choice for adrenal and testicular
tumors
• Radiotherapy is effective for hCG secreting tumors

21. Delayed puberty in girls
• Lack of secondary sexual characteristics by the age of
14 yrs
• Absence of menarche by the age of 16 yrs
• 5 years after ,pubertal onset also indicates delayed
puberty in girls
Delayed puberty
It is more common in boys than girls

22. Delayed puberty in boys
It is usually due to a constitutional delay.
Lack of pubertal changes by the age of 14 yr is
suggestive of delayed puberty in boys.

24. B,Hypergonadotropic hypogonadism
In girls
❖ -Gonadal dysgenesis: Turner syndrome, trisomy 18, 13, 21
❖ aromatase deficiency
❖ Ovarian Surgery, radiation, infections
❖ Autoimmune ovarian failure
❖ LH and FSH receptor mutations,
In boys
❖ Chromosomal abnormalities: Klinefelter syndrome, gonadal dysgenesis,
❖ Testicular injury, Radiotherapy, chemotherapy, trauma, torsion.infections,
❖ Malformations
❖ 5alpha -reductase deficiency
❖ Resistance to testosterone action

25. Clinical Evaluation
•History include
1. Family history of delayed puberty is a clue to
constitutional delay in puberty.
2. H/o any systemic disease
3. H/o head injury, neurosurgery and IC space
occupying lesions
4. CNS examination including olfactory sensation
should be performed

26. Investigations –
• Check for systemic disorders – liver disease, renal
disease, malabsorption.
• Measurement of FSH levels ( karyotype should be done
if FSH levels are high)
• Prolactin,, thyroid profiles should be measured to
exclude reversible causes.
• Neuroimaging and pituitary function test

27. Management
In girls
❖ All patients with hypergonadotropic hypogonadism and
irreversible hypogonadotrooic hypogonadism need
hormone replacement
★ Harmone replacement should be defferred till the bone
age of 12 yrs
❏ The goal of treatment is to initiate and maintain sexual
characteristics and to prevent osteoporosis

28. • Low dose estrogen ( 2mcg ethinyl estradiol everyday)
and gradually increased every 3 months, till adult
dose.
• Medroxy Progesterone acetate should be added two
years after initiation of treatment or once withdrawal
bleeding has started.

29. Treatment
In boys
❖ Testosterone treatment should be deferred till the
age of 14 years and bone age of 13.5 years.
❏suspected case of constitutional delay in puberty
should receive threemonthly injections of
testosterone ( 50mg)

30. Sexual maturity rating (SMR)
Preadolescent.
Appearance of breast bud,
sparse,straight,lightly pigmented hair
breast enlargement beyond the areola,
Coarse, curly, darkenPigmented pubic hair
Nipple and areola form a second mound over
the breast
Hair increase in amount, spread to entire mons
Mature adult type breast and pubic hair (triangle-
shaped) spreading to medial side of thighs

31. SMR in boys
Preadolescent
Scanty, straight, lightly pigmented pubic hair,
Reddening of scrotum, increasing testicular volume
curl,less amount and darken pigmented pubic hair,
Increase in length of penis
Further increase in testicular volume
Coarse,curly, abundant and darken pigmented
pubic hair,
Increase girth of penis and Darkening of scrotum
Adult type pubic hair, penis and scrotum,
Pubic hair spreading to medial side of thighs