eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | klinefelter syndrome |
| Comorbidity | C0021359|infertile |
| Sentences | 6 |
| PubMedID- 21093546 | Humans and mice with loss-of-function mutations of the genes encoding kisspeptins (kiss1) or kisspeptin receptor (kiss1r) are infertile due to hypogonadotropic hypogonadism. |
| PubMedID- 24396593 | Thus, although spontaneous fertility can occur, the majority of females with btm is infertile due to hypogonadotropic hypogonadism (hh) and need assisted reproductive techniques. |
| PubMedID- 21465155 | We describe the first case of a supernumerary inv dup(22)(q11.1) in an infertile male with hypogonadotropic hypogonadism. |
| PubMedID- 25518839 | Hormonal therapy (hcg and rhfsh) for infertile men with adult-onset idiopathic hypogonadotropic hypogonadism. |
| PubMedID- 22774613 | Methods: we analyzed the cytogenetic karyotype of the peripheral blood chromosome in 1 infertile patient with mosaic karyotype klinefelter syndrome and his parents. |
| PubMedID- 20518947 | A karyotype should be considered in a young teenager or infertile man with primary hypogonadism to diagnose klinefelter syndrome (2–4). |
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