Normal stature with minimal or absent pubertal development may be seen in
Correct Answer: Kallman syndrome
Description: Testicular feminization is a syndrome of androgen insensitivity in genetic males, characterized by a normal 46,XY genotype, normal female phenotype during childhood, tall stature, and “normal” breast development with absence of axillary and pubic hair. Breast development (gynecomastia) occurs in these males because high levels of circulating testosterone (which cannot act at its receptor) are aromatized to estrogen, which then acts on the breast. The external genitalia develop as those of a female because testosterone cannot masculinize them, while the Mullerian structures are absent because of testicular secretion of Mullerian-inhibiting factor in utero. Gonadal dysgenesis (e.g., 45,X Turner syndrome) is characterized by short stature and absence of pubertal development; in these girls the ovaries are either absent or streak gonads that are nonfunctional. In either case, estrogen production is possible, and therefore isosexual pubertal development does not occur. Kallman syndrome (hypogonadotropic hypogonadism) should be suspected in patients of normal stature with delayed or absent pubertal development, especially when associated with the classic finding of anosmia. These individuals have a structural defect of the CNS involving the hypothalamus and the olfactory bulbs (located in close proximity to the hypothalamus), such that the hypothalamus does not secrete GnRH in normal pulsatile fashion, if at all. Other causes of minimal or absent pubertal development with normal stature include malnutrition; anorexia nervosa; severe systemic disease; and intensive athletic training, particularly ballet and running.
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