What is Normal stature with minimal or absent pubeal development may be seen in and explain in detail?
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 the 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 sho stature and absence of pubeal 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 pubeal development does not occur. Kallman syndrome (hypogonadotropic hypogonadism) should be suspected in patients of normal stature with delayed or absent pubeal 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 pubeal development with normal stature include malnutrition; anorexia nervosa; severe systemic disease; and intensive athletic training, paicularly ballet and running.