Delayed Puberty - Paediatrics - Lecture Slides, Slides of Pediatrics

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Delayed Puberty

Delayed Puberty

• Introduction
• Differential Diagnosis
• Evaluation of Pubertal Delay
• Management
• Psychosocial Consequences of Delayed

Puberty

Delayed Puberty

• Delay of more than 2-3 standard deviations from the mean age of pubertal onset.
• Delayed : no sexual maturity by 14 years in boys & 13 years in girls.
• Absence of menarche by 16 years of age ,or within 5 years of pubertal onset.

Pubertal development begins ,but progression stalls,the duration of a given characteristic is longer than expected.

Delayed Puberty

• 2.5 % of adolescents.
• Most are boys.
• Most will be found to have no pathology , and

will have normal progression of puberty as

soon as it starts.

• A variety of causes that can be diagnosed with

proper evaluation.

Constitutional Delay

• More than 60% of patients have positive family history.
• Findings on physical examination are unremarkable.
• Delayed bone age that is consistent with the pubertal maturation.
• Outcome in isolated constitutional delay is excellent.
• Sexual maturity & final height are not affected.

Chronic Illness

• Pathophysiology is multifactorial.
• Steroids , chemotherapy , medications ,

radiation may have short or long term effects.

• Close monitoring of pubertal course is

required.

• Often only reassurance is required.

Hypopituitarism

Panhypopituitarism (congenital or acquired)

Typically present with short stature in early childhood. In adolescence it is usually due to idiopathic hypothalamic failure. Other CNS etiologies should be ruled out. Tumors , histiocytosis, severe trauma.

Hypopituitarism

Isolated Gonadotropin Deficiencies (Kallman Syndrome)

 Heterogeneous in presentation, difficult to distinguish from constitutional delay.  More in boys.  Associated with anosmia.  KAL-1 gene.  Examination may be normal apart from a small phallus & testes.  Delayed bone age is the only consistent finding.

Endocrinopathies

Hyperprolactinemia :

Pituitary adenoma , drug associated.

May cause primary or secondary amenorrhea.

Serum prolactin measurement is a part of

patients evaluation.

Imaging studies of the brain may be normal.

Bilateral Gonadal Failure

• Uncommon.
• Markedly elevated serum gonadotropins.
• Congenital :
  • Turner Syndrome
  • Klinefelter Syndrome
• Other congenital & acquired causes are rare.

Klinefelter Syndrome

• Genetically variable.
• Identified at puberty & early adulthood.
• Sometimes spontaneous puberty occurs but testes become fibrotic as boys become older.
• Present with small testes,external genitalia & gynecomastia.
• Borderline intellectual abilities & behavioral difficulties may lead to the diagnosis.
• Tall as children , which often delays the diagnosis.
• Low testosterone , high FSH , oligospermia or azospermia are detected.

Acquired causes of Gonadal Failure

• Causes:
  • Chemotherapy, radiation, Surgery.
  • Trauma, infections, autoimmune, metabolic.
• Mumps orchitis is the most common infectious cause.
• Addison disease: autoimmune oophoritis.
• Galagtosemia: The effects of galactose & its metabolites on the prenatal or neonatal ovary may delay puberty or cause menstrual dysfunction.

Hypogonadotropic Hypogonadism

• Eating disorders, malnutrition, excessive exercise.
• Girls more affected than boys & present with

Amenorrhea.

• Competitive Athletes have delays proportionate to

the intensity of training.

• Weight gain usually corrects these abnormalities.
• Women with eating disorders are at risk of menstrual

irregularities independent of weight.

Congenital Anatomic Abnormalities.

They present with delayed onset of menses

despite normal development of secondary

sexual characteristics.

Imperforate hymen, vaginal atresia, vaginal aplasia .

Canceled Menarche : Cyclic abdominal pain.