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Improved nutritional status and increased obesity in particular are driving earlier onset of puberty
Cause | Clinical Features | Investigations | Management |
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Constitutional Delay of Growth and Puberty | Short stature, delayed bone age, family history of delayed puberty, normal growth velocity, delayed but eventually normal puberty. | Bone age assessment, growth charts, hormone levels (LH, FSH, testosterone/estradiol). | Reassurance and observation, monitoring growth and development, possible short-term hormone therapy (e.g., low-dose testosterone in boys). |
Hypogonadotropic Hypogonadism (e.g., Kallmann Syndrome) | Absent or incomplete puberty, anosmia (in Kallmann syndrome), low gonadotropin levels (LH, FSH), low sex steroids. | Serum LH, FSH, testosterone/estradiol, MRI of the brain (to assess hypothalamus and pituitary), genetic testing if Kallmann syndrome is suspected. | Hormone replacement therapy (e.g., testosterone in boys, estrogen in girls), gonadotropin therapy for fertility, monitoring of growth and development. |
Primary Hypogonadism (e.g., Turner Syndrome, Klinefelter Syndrome) | Short stature in Turner syndrome, tall stature with long limbs in Klinefelter syndrome, primary amenorrhea in girls, small testes in boys, low sex steroids, elevated gonadotropins. | Karyotype analysis, serum LH, FSH, testosterone/estradiol, bone age assessment. | Hormone replacement therapy (e.g., estrogen in Turner syndrome, testosterone in Klinefelter syndrome), fertility counseling, management of associated conditions (e.g., cardiovascular in Turner syndrome). |
Chronic Systemic Diseases (e.g., Cystic Fibrosis, Chronic Kidney Disease) | Poor growth, delayed puberty, symptoms related to the underlying disease (e.g., respiratory symptoms in cystic fibrosis, fatigue in chronic kidney disease). | Assessment of underlying disease (e.g., sweat test for cystic fibrosis, renal function tests), hormone levels, growth charts. | Management of the underlying disease, nutritional support, hormone replacement therapy if indicated. |
Hypothyroidism | Fatigue, weight gain, cold intolerance, delayed puberty, delayed bone age, bradycardia. | Serum TSH, free T4 levels, bone age assessment, growth charts. | Thyroid hormone replacement therapy (levothyroxine), regular monitoring of growth and pubertal development. |
Hyperprolactinemia | Delayed puberty, galactorrhea, headaches, visual disturbances if caused by a pituitary adenoma, low gonadotropins. | Serum prolactin levels, MRI of the brain (to assess pituitary), hormone levels (LH, FSH, testosterone/estradiol). | Treatment of underlying cause (e.g., dopamine agonists for prolactinoma), hormone replacement therapy if indicated, monitoring of growth and development. |
Nutritional Deficiency/Anorexia Nervosa | Underweight, amenorrhea, delayed puberty, low energy, preoccupation with food and weight, signs of malnutrition. | Body mass index (BMI), hormone levels (LH, FSH, testosterone/estradiol), nutritional assessment, psychological evaluation. | Nutritional rehabilitation, psychological support, hormone replacement therapy if indicated, monitoring of growth and pubertal development. |
Idiopathic Delayed Puberty | Delayed puberty without an identifiable cause, normal growth velocity, normal bone age or mildly delayed. | Hormone levels (LH, FSH, testosterone/estradiol), bone age assessment, growth charts, exclusion of other causes. | Observation, reassurance, possible short-term hormone therapy, regular monitoring of growth and pubertal development. |