Follicle-stimulating hormone deficiency- isolated

Overview

Follicle-stimulating hormone deficiency, isolated: A genetic disorder characterized by the deficiency of follicle-stimulating hormone which primarily affects fertility.

Symptoms

Infertility Primary amenorrhea Low follicle stimulating hormone level Normal leutenizing hormone level

Treatment

Medical Care Medical treatment depends on the underlying etiology. Appropriate articles are available that contain detailed discussions. However, the following points deserve mention: In women with primary (ovarian) or secondary (pituitary) hypogonadism, hormone replacement therapy may be administered (estrogen and progesterone). However, a recent study by the Women's Health Initiative showed health risks from using estrogens plus progesterone in 16,608 postmenopausal women over 5.2 years of follow-up. Excess risks attributable to estrogens plus progesterone included more cardiovascular events, strokes, pulmonary emboli, and invasive breast cancers, but less risk of colorectal cancer. Hormone replacement therapy should take into account all of these factors. Also, other pituitary deficiencies (eg, thyroid, adrenal) must be corrected in the appropriate setting. In men with primary (testes) or secondary (pituitary) hypogonadism, testosterone replacement therapy is administered, either intramuscularly or with patches or gel. Again, other pituitary deficiencies must be corrected. In both men and women, treatment targeted at the underlying etiology may suffice. In patients with prolactinomas, medical treatment with a dopamine agonist lowers prolactin levels and may normalize FSH, LH, and testosterone/estradiol levels. In patients with hemochromatosis, repeated phlebotomy to remove iron may reverse the gonadotropin deficiency. Surgical Care Surgery is the treatment of choice for patients with gonadotroph adenomas, adrenal tumors, or gonadal tumors, unless contraindicated for other medical reasons. Consultations Consultation with an endocrinologist or gynecologist is frequently helpful for appropriate diagnostic evaluation and management.