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Key Features

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  • Indications for evaluation

    • No secondary sexual characteristics by 14 years of age

    • More than 5 years have elapsed since the first signs of puberty without completion of genital growth

  • Most common cause is constitutional growth delay

  • Hypogonadism in boys may be classified as

    • Primary due to absence, malfunction, or destruction of testicular tissue

    • Central due to pituitary or hypothalamic insufficiency

  • Primary testicular insufficiency may be due to

    • Anorchia

    • Klinefelter syndrome (47,XXY) or other sex chromosome abnormalities

    • Enzymatic defects in testosterone synthesis

    • Inflammation or destruction of the testes following infection (mumps), autoimmune disorders, radiation, trauma, or tumor

  • Central hypogonadism may accompany

    • Panhypopituitarism

    • Hypogonadotropic hypogonadism with (Kallmann syndrome) or without abnormalities in smell

    • Hyperprolactinemia

    • Isolated luteinizing hormone (LH) or follicle-stimulating hormone (FSH) deficiency

    • Destructive lesions in or near the anterior pituitary (especially craniopharyngioma and glioma)

    • Infection

    • Prader-Willi syndrome

    • Laurence-Moon syndrome (Bardet-Biedl syndrome)

  • Deficiencies in gonadotropins may be partial or complete

  • Functional or reversible gonadotropin may occur with chronic illness, malnutrition, hyperprolactinemia, hypothyroidism, or excessive exercise

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Clinical Findings

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  • History should focus on whether and when puberty started, testicular descent, symptoms of chronic illness, nutritional intake, sense of smell, and family history of delayed puberty

  • Physical examination should include

    • Body proportions

    • Height and weight

    • Pubertal stage

    • Testicular location, size, and consistency

  • Testes < 2 cm in length are prepubertal; testes > 2.5 cm in length suggest early pubertal growth

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Diagnosis

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  • Laboratory evaluation includes measurement of LH and FSH levels (if bone age is > 12 years)

  • Elevated gonadotropins indicate primary hypogonadism or testicular failure

  • Low gonadotropins on a sensitive assay are consistent with central hypogonadism and further evaluation should focus on looking for pituitary hormone deficiencies, chronic disease, undernutrition, hyperprolactinemia, or CNS abnormalities

  • A radiograph of the left hand and wrist should be done to assess bone age;if bone age is delayed (< 12 years) and growth velocity is normal, constitutional growth delay is the most likely diagnosis

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Treatment

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  • A 4- to 6-month course of low-dose depot testosterone (50–100 mg/mo) may be given to stimulate pubertal appearance and "jump-start" endogenous development in boys with simple constitutional delay

  • In adolescents with permanent hypogonadism,

    • Depot testosterone is initiated with 50–100 mg intramuscularly each month and gradually increased over 3–4 years to adult dosing (200 mg every 2–4 weeks)

    • Testosterone gel, either in single-dose packets or in a pump set to dispense a preset dose, is an alternative that is applied daily

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