Abnormal Pubertal Development - 93-1
Puberty is the transition from childhood to adolescence, physiologically and psychosocially. Questions about typical and atypical pubertal development are a common reason for presentation to primary care clinics. Abnormalities in pubertal development can be indicators of severe underlying disorders, and can be a cause of significant anxiety for patients and families. They require careful investigation and follow-up.
- Delayed puberty
- Variant of normal constitutional delay of puberty
- Primary gonadal disorders
- Chromosomal (e.g., Turner and Kleinfelter Syndromes)
- Congenital malformations
- Acquired gonadal disorders (e.g., gonadal infection, trauma, neoplasm)
- Secondary gonadal disorders
- Functional (e.g., chronic illness, malnutrition)
- Hypothalamic dysfunction (e.g., hyperprolactinemia, exogenous steroids)
- Pituitary dysfunction (e.g., central nervous system [CNS] tumor)
- Precocious puberty
- Central precocious puberty (gonadotropin-dependent)
- Central nervous system (e.g., neoplasms, hydrocephalus)
- Peripheral precocious puberty (gonadotropin-independent)
- Autonomous gonadal function (e.g., ovarian cysts, Leydig cell tumors of ovaries or testes)
- Adrenal pathology (e.g., tumors, congenital adrenal hyperplasia)
- Exogenous sex hormone exposure
- Incomplete precocious puberty (e.g., premature thelarche, premature adrenarche)
Given a patient with concerns about pubertal development, the candidate will identify the cause, severity, and complications, and will initiate an appropriate management plan. Particular attention should be paid to distinguishing normal variants of pubertal development from symptoms of serious underlying disorders, and to supportive counseling regarding the psychosocial aspects of puberty.
Given a patient with concerns about pubertal development, the candidate will
- list and interpret relevant clinical findings, including
- obtaining an appropriate history with particular attention to growth and development, nutrition, and symptoms of underlying systemic disease;.
- performing an appropriate physical examination with particular attention to Tanner staging of pubertal development, and to signs of underlying disorders (e.g. CNS tumors, eating disorders);
- list and interpret relevant investigations, including
- differentiation of normal variants from serious or urgent underlying conditions (e.g., central nervous system or pelvic imaging if neoplasm is suspected);
- conduct an effective initial management plan, including
- reassurance in case of normal variants of pubertal development;
- referral for appropriate specialized care (e.g., pediatrics, endocrinology, genetics, neurology), in case of abnormal pubertal development;
- supportive counseling to the patient and his family regarding the psychosocial implications of abnormal pubertal development.