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Older children and adults with the condition tend to be somewhat taller than their peers. Other physical changes associated with Klinefelter syndrome are usually subtle. Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis). As a result of the small testes and decreased hormone production, affected males are infertile but may benefit from assisted reproductive technologies. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair.
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Testosterone is the hormone that directs male sexual development before birth and during puberty. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed.īoys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Most commonly, affected individuals are taller than average are unable to father biological children (infertile) however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. Thus, the 5.0-mg dose of this GnRH antagonist provides a pharmacological means of markedly suppressing the hypothalamic-pituitary-gonadal axis and, therefore, has potential as a male contraceptive.Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. No adverse systemic side effects occurred. Serum T levels were transiently suppressed only on day 1 paralleling immunoreactive LH suppression. Serum immunoreactive FSH levels were not significantly changed over the 21-day treatment period. There was a subsequent escape on the rest of the days sampled.
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A 1.5-mg dose of Nal-Glu transiently suppressed serum immunoreactive LH levels on day 1. Amplitude of immunoreactive LH pulses was markedly reduced in the 5.0-mg group on day 21. Serum bioactive LH levels also showed a marked decrease in the 5.0-mg group similar to that seen in immunoreactive LH levels. Five milligrams Nal-Glu markedly suppressed mean serum immunoreactive LH to a mean of 1.5 +/- 0.4 IU/L (+/- SEM), immunoreactive FSH to the limit of assay detection (1 IU/L), and lowered basal mean serum T to castrate range (less than 2 nmol/L). Serum luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone (T) were determined on multiple occasions before, during, and after the antagonist treatment. To study the dose response characteristics of a gonadotropin-releasing hormone (GnRH) antagonist ( GnRH Nal-Glu), 1.5 or 5.0 mg of Nal-Glu were administered to two groups of five normal men by daily subcutaneous injection for 21 days.