Normal stature with minimal or absent pubeal development may be seen in:
Testicular feminization
Kallmann syndrome
Pure gonadal dysgenesis
Turner syndrome
Testicular feminization is a syndrome of androgen insensitivity, 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. Gonadal dysgenesis (e.g., 45X 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 non-functional. Kallmann 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. The hypothalamus does not secrete GnRH in normal pulsatile fashion, if at all.
Pubeal Changes