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Initial evaluation of delayed or stalled puberty

Initial evaluation of delayed or stalled puberty
This algorithm describes the initial approach to evaluating assigned females with no pubertal development by age 12 to 13 years or assigned males with no pubertal development by age 13 to 14 years. It also applies to individuals with "stalled" puberty, defined as cessation of pubertal development for >2 years after initial signs of pubertal development. It does not apply to patients with secondary amenorrhea, although many of the conditions discussed in the differential diagnosis may also cause secondary amenorrhea.

CDGP: constitutional delay of growth and puberty; CNS: central nervous system; FHH: functional hypogonadotropic hypogonadism; FSH: follicle-stimulating hormone; IHH: idiopathic hypogonadotropic hypogonadism; LH: luteinizing hormone.

* Reassessment of pubertal progression should involve repeat physical examination 4 to 6 months after resolution of underlying condition. In some cases, FSH, LH, and gonadal steroids (estradiol or testosterone) will be obtained at presentation and may be repeated on subsequent evaluation.

¶ Patients with secondary (hypogonadotropic) hypogonadism may present with LH, FSH, and estradiol or testosterone that are within the normative range for pubertal stage.

Δ FHH is delayed puberty that results from an underlying condition (eg, calorie restriction, celiac disease).

◊ Findings suggestive of CDGP rather than IHH include: childhood growth below expected percentiles, normosmia (intact sense of smell), absence of dysmorphic features/atypical genital development (eg, cryptorchidism, microphallus), family history of self-resolving pubertal delay, and absent adrenarche.

§ Congenital anatomic lesions of the hypothalamus or pituitary include optic nerve hypoplasia and hypoplastic pituitary. Acquired abnormalities of the hypothalamus or pituitary include tumors (eg, craniopharyngioma, prolactinoma). Symptoms concerning for a CNS tumor (eg, headache, visual changes, ataxia, seizure) require urgent evaluation.

Graphic 148631 Version 1.0

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