eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | x-linked adrenal hypoplasia congenita |
| Comorbidity | C0022735|hypogonadotropic hypogonadism |
| Sentences | 5 |
| PubMedID- 21227944 | Dax1/nr0b1 mutations are responsible for x-linked congenital adrenal hypoplasia (ahc) associated with hypogonadotropic hypogonadism (hh). |
| PubMedID- 23612644 | Duplication of this area causes dosage sensitive male-to-female sex reversal while mutation or deletion leads to adrenal hypoplasia congenita with hypogonadotropic hypogonadism in affected males. |
| PubMedID- 21632081 | x-linked adrenal hypoplasia congenita with hypogonadotropic hypogonadism and adrenal insufficiency is a rare disorder caused by mutations of dax-1. |
| PubMedID- 22562240 | Overall, in the study presented herein we showed overexpression of aromatase in leydig and sertoli cells in man with hypogonadotropic hypogonadism associated with adrenal hypoplasia congenita after gonadotropins treatment. |
| PubMedID- 21369954 | For example, in humans, a 60-mb inversion occurring in the x chromosome led to x-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism in four related males in a pedigree (skinningsrud et al. |
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