Delayed puberty laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Laboratory Findings

The most valuable blood tests are the gonadotropins, because elevation confirms immediately a defect of the gonads or deficiency of the sex steroids. In many instances, screening tests such as a complete blood count, general chemistry screens, thyroid tests, and urinalysis may be worthwhile.

• There are no diagnostic laboratory findings associated with [disease name].

OR

• An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
• [Test] is usually normal among patients with [disease name].
• Laboratory findings consistent with the diagnosis of [disease name] include
  • [Abnormal test 1]
  • [Abnormal test 2]
  • [Abnormal test 3]

• Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

Delayed puberty

Clinical suspicion to delayed puberty (Absent growth spurt along with lack of testicular enlargement or breast development)

First line evaluation • Biochemical analyses • Bone age radiography • Basal serum LH, FSH, IGF-1, TSH, free thyroxine, and testosterone (in boys)

Reduced or normal LH and FSH

Elevated FSH or LH

Growth rate as prepubertal

Growth rate lower than prepubertal

Constitutional delay of growth and puberty (CDGP)

Gonadotropin releasing hormone (GnRH) deficiency

Transient hypogonadotropic hypogonadism

Permanent hypogonadotropic hypogonadism

Hypergonadotropic hypogonadism

Second line evaluation

Second line evaluation

Second line evaluation

• GnRH test • hCG stimulation test • Serum inhibin B • Olfactory-function test • Genetic testing • MRI

Evaluating more underlying diseases: • MRI • Prolactin

Evaluating more underlying diseases: • Karyotype • Serum inhibin B

Low BMI

Normal BMI

High BMI

• GI disorder • Malnutrition • Anorexia

• Hypothyreosis • Hyperprolactinemia • Multiple pituitary hormone deficiency

• Glucocorticoid excess (iatrogenic, Cushing’s disease) • Hypothyroidism

Follow up Evaluate the need for the induction of secondary sex characteristics

Treat underlying disease

Treat with sex steroids