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34. How to investigate a child with delayed puberty?

The first-line investigations in a child presenting with delayed puberty include

hemogram, renal and liver function tests, celiac serology, and thyroid function

test. After exclusion of chronic systemic disorders, hormonal evaluation includ-

ing LH, FSH, testosterone/estradiol, and prolactin should be performed. In

addition, IGF1 and serum cortisol should be estimated, if there is a clinical

suspicion of multiple pituitary hormone deficiency. Bone age assessment

ab

Fig. 7.9 (a) A 21-year-old patient with Prader–Willi syndrome with gynecomastia, (b) immature
facies and absent facial hair suggestive of hypogonadism

7 Delayed Puberty