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Pubertal development

Medicine > Endocrine & metabolic

Differential Diagnosis Schema 🧠

Delayed Puberty

  • Constitutional delay of growth and puberty: Most common cause, often familial and self-limiting.
  • Hypogonadotropic hypogonadism: Due to pituitary or hypothalamic dysfunction, e.g., Kallmann syndrome, pituitary tumors.
  • Hypergonadotropic hypogonadism: Due to gonadal failure, e.g., Turner syndrome, Klinefelter syndrome.
  • Chronic illnesses: Conditions like cystic fibrosis, inflammatory bowel disease, or chronic renal insufficiency can delay puberty.
  • Nutritional deficiencies: Anorexia nervosa or malnutrition can delay the onset of puberty.
  • Endocrine disorders: Hypothyroidism, hyperprolactinemia, or adrenal insufficiency can cause delayed puberty.
  • Genetic disorders: Mutations affecting the hypothalamic-pituitary-gonadal axis can delay puberty.
  • Excessive physical activity: Common in athletes, leading to delayed puberty due to energy deficiency.
  • Cushing’s syndrome: Can present with delayed puberty due to hypercortisolism.

Precocious Puberty

  • Central precocious puberty (gonadotropin-dependent): Premature activation of the hypothalamic-pituitary-gonadal axis, often idiopathic but may be due to CNS tumors or other lesions.
  • Peripheral precocious puberty (gonadotropin-independent): Due to autonomous production of sex steroids from gonads or adrenal glands, e.g., congenital adrenal hyperplasia, McCune-Albright syndrome.
  • Exogenous exposure: Exposure to external sources of estrogen or testosterone, such as creams or medications.
  • Hypothyroidism: Severe untreated hypothyroidism can paradoxically lead to precocious puberty.
  • Adrenal tumors: Can produce androgens leading to early pubertal changes.
  • Gonadal tumors: Germ cell tumors may secrete hCG, leading to early puberty.
  • Obesity: Increased adipose tissue can convert androgens to estrogens, leading to early pubertal signs.
  • McCune-Albright syndrome: Characterized by café-au-lait spots, fibrous dysplasia of bone, and precocious puberty.
  • Congenital adrenal hyperplasia: Overproduction of androgens from the adrenal gland due to enzyme defects.
  • Familial precocious puberty: Genetic predisposition to early activation of puberty.

Key Points in History 🥼

Pubertal History

  • Age of onset of pubertal changes: Early or late onset may indicate precocious or delayed puberty, respectively.
  • Sequence of pubertal events: The typical sequence is thelarche (breast development), pubarche (pubic hair growth), and menarche (onset of menstruation) in girls; testicular enlargement, pubarche, and growth spurt in boys.
  • Rate of progression: Rapid progression suggests central precocious puberty, while slow or absent progression indicates delayed puberty.
  • Family history of pubertal timing: Helps to identify constitutional delay or familial precocious puberty.
  • Associated symptoms: Headaches or visual disturbances may suggest a CNS lesion; galactorrhea may indicate hyperprolactinemia.
  • Nutritional status: Weight loss, malnutrition, or obesity can impact pubertal timing.
  • Physical activity level: High levels of physical activity, especially in athletes, can delay puberty.
  • Psychosocial history: Stress, family dynamics, and socio-economic status can influence pubertal development.
  • Medication use: History of steroid use, chemotherapy, or other medications can affect puberty.
  • Past medical history: Chronic illnesses or previous treatment for cancer can delay pubertal onset.
  • Infection history: Recurrent infections, especially meningitis or encephalitis, may affect the hypothalamic-pituitary axis.
  • Birth and neonatal history: Consider conditions like small for gestational age (SGA) which may affect later pubertal development.
  • Environmental exposures: Consider exposure to endocrine-disrupting chemicals.

Background

  • Family history: Important to assess for familial patterns of pubertal timing, particularly constitutional delay or familial precocious puberty.
  • Medical history: Chronic illnesses such as cystic fibrosis, inflammatory bowel disease, or renal disease can delay puberty.
  • Medication history: Use of medications such as glucocorticoids or chemotherapy can impact pubertal development.
  • Social history: Assess for psychosocial stressors, socioeconomic status, and access to nutrition, which can all influence pubertal development.
  • Nutritional history: A history of eating disorders, malnutrition, or obesity should be considered.
  • Psychosocial history: Consider factors such as stress, family dynamics, and psychological well-being.
  • Growth patterns: Assess growth charts for evidence of growth delay or acceleration that may correlate with pubertal changes.
  • Developmental history: Consider the child’s overall development, including milestones and any delays.
  • Ethnicity and geographical background: Some populations may experience variations in the timing of pubertal development.
  • Previous imaging or laboratory tests: Previous investigations relevant to growth and development.

Possible Investigations 🌡️

Laboratory Tests

  • Luteinizing hormone (LH) and follicle-stimulating hormone (FSH): To assess pituitary function; elevated in primary gonadal failure, low in central causes.
  • Estradiol (females) and testosterone (males): To evaluate gonadal function and confirm pubertal status.
  • Thyroid function tests: To rule out hypothyroidism or hyperthyroidism, which can affect pubertal timing.
  • Prolactin: Elevated levels may indicate pituitary tumors or hypothalamic dysfunction.
  • 17-hydroxyprogesterone: To screen for congenital adrenal hyperplasia in cases of precocious puberty.
  • Bone age assessment: Via wrist X-ray to determine if skeletal maturation is consistent with chronological age.
  • Serum electrolytes and glucose: To assess for metabolic conditions, particularly in chronic illnesses.
  • Insulin-like growth factor 1 (IGF-1): To assess for growth hormone deficiency in delayed puberty.
  • Adrenal androgens (DHEA-S): Elevated in cases of peripheral precocious puberty due to adrenal causes.
  • Gonadotropin-releasing hormone (GnRH) stimulation test: To differentiate between central and peripheral causes of precocious puberty.
  • Genetic testing: May be indicated in cases of suspected Turner syndrome, Klinefelter syndrome, or other genetic disorders.
  • Cortisol levels: To screen for Cushing’s syndrome in cases of delayed puberty.
  • Complete blood count (CBC): To assess overall health and identify underlying conditions like anemia.
  • Iron studies: To check for iron deficiency, particularly in delayed puberty with suspected anemia.
  • Serum ferritin: To assess for chronic disease or iron deficiency.
  • Autoimmune screen: If autoimmune disease is suspected as a cause of delayed puberty.
  • Serum lipid profile: Particularly in cases where obesity is present and may contribute to pubertal disorders.
  • Urine steroid profile: To assess for adrenal causes of precocious puberty.
  • Tumor markers: In cases of suspected gonadal or adrenal tumors contributing to precocious puberty.
  • Serum creatinine and urea: To assess kidney function in chronic kidney disease that may delay puberty.
  • Liver function tests (LFTs): To assess for liver disease in delayed puberty.
  • Coeliac screen: To rule out coeliac disease in cases of delayed puberty with growth failure.

Imaging and Other Tests

  • Pelvic ultrasound: To assess ovarian and uterine development in females with delayed or precocious puberty.
  • Testicular ultrasound: To evaluate testicular volume and detect tumors in males with pubertal disorders.
  • MRI brain: Particularly of the hypothalamic-pituitary region, to assess for CNS causes of pubertal disorders, such as tumors or structural abnormalities.
  • Bone density scan (DEXA): To assess bone health in cases of delayed puberty or prolonged amenorrhea.
  • Hand and wrist X-ray: For bone age assessment, especially in cases of delayed puberty.
  • Echocardiogram: In cases of suspected Turner syndrome or other genetic conditions associated with cardiac anomalies.
  • Electroencephalogram (EEG): If seizures are present, particularly in cases of CNS-related pubertal disorders.
  • CT scan of the abdomen/pelvis: If adrenal or gonadal tumors are suspected.
  • Laparoscopy: May be indicated in females with ambiguous genitalia or suspected gonadal dysgenesis.
  • Genetic counseling: For families where hereditary causes of pubertal disorders are identified or suspected.
  • Cardiac MRI: In cases of Turner syndrome to assess for aortic coarctation or other cardiac anomalies.
  • Ophthalmology review: If there are visual symptoms suggestive of CNS pathology affecting puberty.
  • Neuropsychological assessment: To evaluate cognitive and psychological impact in cases of delayed or precocious puberty.
  • Audiometry: If hearing loss is suspected in genetic syndromes associated with pubertal disorders.
  • Bone marrow biopsy: If hematological malignancies are suspected in cases of delayed puberty.

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Endocrine & metabolic