Disorder of Puberty (Precocious & Delayed Puberty)

Competencies-based curricullum 4th semester 7th block

Disorder of Puberty (Precocious & Delayed

Puberty)

Competencies-Based Curricullum

4th Semester 7th Block

What is puberty?

• biological changes and sexual maturation that occur during the transition from childhood to adulthood

• Average age of onset: –10 (range 8-13) years in Girls–12 (range 10-15) years in Boys

Important items in the puberty evaluation

History : - Growth record- Family history of growth disorders and ages

of maturation - Review of systems, and - Nutritional history.

Neinstein L.S. Adolescent Health Care: A Practical Guide, 2002

Neinstein LS and Kaufman FR: Abnormal Growth and Development, 2002.

Physical examination

Should include a complete examination but particularly focus on:

- Nutritional status - Body measurements - Sexual maturity rating - Thyroid exam - Cardiac exam (for congenital heart disease) - Chest exam (for chronic pulmonary disease) - Abdominal exam (hepatosplenomegaly as sign of

chronic system disease) - External vaginal examination (evaluate for presence of

uterus and ovaries) - Neurologic exam (for intracranial pathology)

Basic Laboratory tests

- Complete blood count (anemia) - Urinalysis (chronic renal disease) - Sedimentation rate (screen for chronic systemic

disease) - Chemistry panel including glucose, creatinine, calcium phosphorus, albumin, protein and liver enzymes - A bone age is an essential part of the evaluation for

delayed puberty. - TSH: A screen for thyroid dysfunction

• For specific diagnostic assessments & therapeutic management needs appropriate other health professionals (Endocrinologist, Gynaecologist)

• Health care provider must be prepared to help the adolescent with long term follow-up & psychological support including

- Identification of the problem, - Growth and sexual maturation,

- Sexual identity and- Reproductive potential.

PRECOCIOUS PUBERTY

Precocious onset of puberty is defined as occurring younger than 2 SD before the average age Girls <8 years old : Develops breast & pubic hair before 8 years old Boys <9 years old : Has an increase in testicle size & penis length before 9 years of age

Causa of Precocious Puberty

1. Gonadotrophin-dependent (true / central) - Intra-cranial lesions

(tumours, hydrocephalus, CNS malformations,

irradiation, trauma) - Gonadotrophin secreting tumours – v. rare

2. Gonadotrophin-independent (FSH & LH suppressed) Exogenous Sex Hormone

Delayed puberty

Delayed onset of puberty is defined as occurring older than 2 SD after the average age

Girls > 13.4 years old Boys > 14 years old

Adolescents that are beyond these limits should be considered for evaluation for hypothalamic, pituitary, gonadal dysfunction, or undiagnosed chronic illness.

Male Guidelines for Delayed Puberty

• Genital (G) stage 1 persists beyond age 13.7 years, or • Pubic hair (PH) stage 1 persists beyond 15.1 years of age • More than 5 years have elapsed from initiation to completion of genital growth. • The following sexual maturity ratings (SMRs) persist past the listed guidelines:

- G2 > 2.2 years - G3 > 1.6 years - G4 > 1.9 years - PH2 > 1.0 year - PH3 > 0.5 year - PH4 > 1.5 years

Neinstein L.S. Adolescent Health Care: A Practical Guide, 2002

Neinstein LS and Kaufman FR: Abnormal Growth and Development, 2002.

Female Guidelines for delayed puberty

• Breast (B) stage 1 persists beyond age 13.4, or • Pubic hair stage 1 persists beyond 14.1 years, or• There is failure to menstruate beyond 16 years of age. • More than 5 years have elapsed between initiation of

breast growth and menarche. • The following sexual maturity ratings persist past the listed

guidelines: – B2 > 1.0 year – B3 > 2.2 years – B4 > 6.8 years – PH2 > 1.3 years – PH3 > 0.9 years – PH4 > 2.4 years

Neinstein L.S. Adolescent Health Care: A Practical Guide, 2002

Neinstein LS and Kaufman FR: Abnormal Growth and Development, 2002.

Causa of Delayed Puberty

General• Constitutional delay of growth and puberty• Malabsorption

– Coeliac / imflammatory bowel disease

• Underweight– Dieting, anorexia nervosa, over-exercise

• Chronic illness– Asthma, malignancy, beta thallasaemia major

Causa of Delayed Puberty (con’t)

• Gonadal failure - Chromosomal Abnormalities– Post-malignancy chemo / radiotherapy / surgery– Polyglandular autoimmune syndromes

• Gonadal deficiency– Congenital hypogonadotrophic hypogonadism – Hypothalamic/pituitary lesions (tumours, post-

radiotherapy)– Rare gene mutations inactivating FSH/LH or their

receptors

THANK YOU

Turner’s Syndrome• About one case in 3,000 live female births• Short stature• CVS

• Coarctation of aorta• Spont. aortic dilatation• hypertension

• Lymphoedema• Recurrent otitis media• Dysplastic nails• Crohn’s/U.C., cancer colon • R.A.• Thyroid disease• D.M.

Klinefelter's syndrome

• One case in 700 live male births• Tall stature • Eunuchoid body : - Long legs - Relatively short arms, - Height:arm-span ratio >1.0 • Testes are small but firm, and• Gynecomastia is often present.

Constitutional delay of puberty

• 90% of delayed puberty is constitutional delay of puberty • The following items should be considered : - No chronic disease contribute to growth failure - Nutritional status is normal - Growth rate at least 3.7 cm/year - Physical examination normal including genital anatomy - Normal CBC, sedimentation rate, urinalysis result and TSH - Normal serum LH & FSH (may not be needed in all cases) - The bone age is delayed 1.5 to 4.0 years - Supportive evidence includes a family history of constitutional delay & a height between 3 rd and 25th percentiles for chronologic age