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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease klinefelter syndrome
Symptom C0021359|infertile
Sentences 4
PubMedID- 21465155 Small supernumerary marker chromosome (ssmc) derived from chromosome 22 in an infertile man with hypogonadotropic hypogonadism.
PubMedID- 25518839 Hormonal therapy (hcg and rhfsh) for infertile men with adult-onset idiopathic hypogonadotropic hypogonadism.
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.

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