Klinefelter syndrome (KS) is a relatively common disorder with significant morbidity. Symptomatic adolescents with hypogonadal KS can be treated with testosterone supplementation therapy for androgen deficiency and concurrent human chorionic gonadotropin (hCG) to preserve fertility. Invasive biopsies and cryopreservation are not recommended in adolescents because they have significant negative effects and provide no advantage compared to delaying such procedures until adulthood when fertility is desired. For adults who have KS and desire fertility, the recommendation is medical therapy to optimize intratesticular testosterone, if the patient has a low serum testosterone level, followed by microdissection testicular sperm extraction (TESE) and pregnancy by intracytoplasmic sperm injection (ICSI). The management of fertility in adults with KS is well established with good pregnancy outcomes.
ASJC Scopus subject areas
- Health Professions(all)