In females, FSH<unk>  results in diminished development of ovarian<unk> s and granulosa cells and low to normal estrogen levels, elevated to very elevated gonadotropin levels, and low inhibin B levels, whereas males present with diminished Sertoli cell proliferation and moderately elevated FSH levels, normal to slightly elevated LH levels, normal testosterone levels, and reduced inhibin B levels. Due in part to elevated LH levels, which stimulate androgen production by theca cells in the ovaries, and due in part to FSH<unk> , resulting in a lack of aromatase in nearby granulosa cells that normally convert androgens into estrogens, it could be expected that females with FSH<unk>  might present with symptoms of hyperandrogenism at puberty. However, this has not been found to be the case. This may be in part because FSH, via stimulation of granulosa cells and the resultant secretion of yet-unidentified paracrine factors (but possibly including inhibin B), has been shown to significantly enhance the LH-mediated stimulation of androgen production by theca cells. In addition, theca cells predominantly secrete the relatively weak androgen androstenedione, whereas granulosa cells, signaled to do so by FSH under normal circumstances, convert androstenedione into its more potent relative testosterone (which is subsequently converted into estradiol). Hence, in females, FSH<unk>  may not only result in deficiencies in estrogen production by granulosa cells, but in diminished androgen synthesis by both theca and granulosa cells as well, which could potentially explain why hyperandrogenism does not occur. FSH<unk>  presents itself in females as two clusters of symptoms: 1) hypergonadotropic hypogonadism or hypoestrogenism, resulting in a delayed, reduced, or fully absent puberty and associated sexual infantilism (if left untreated), reduced uterine volume, and osteoporosis; and 2) ovarian dysgenesis or failure, resulting in primary or secondary amenorrhea, infertility, and normal sized to slightly enlarged ovaries. Males on the other hand are significantly less affected, presenting merely with partial or complete infertility, reduced testicular volume, and oligozoospermia (reduced spermatogenesis).
Follicle-stimulating hormone insensitivity
Thyroid hormone resistance
Gonadotropin-releasing hormone insensitivity
Congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia
Hypergonadotropic hypergonadism
Isolated growth hormone deficiency
Familial male-limited precocious puberty