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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease gonadal dysgenesis
Comorbidity C0021359|infertility
Sentences 2
PubMedID- 24753843 Other known features are gonadal dysgenesis with infertility and premature ovarian failure, endocrine disturbances (hypothyroidism, type 2 diabetes) (elsheikh et al., 2001; gravholt, 2005), cardiac malformations (mainly left heart problems such as coarctation aortae) and urogenital problems with multicystic kidney dysplasia and horseshoe kidney (hjerrild et al., 2008; papp et al., 2006b).
PubMedID- 22147393 The cardinal features of turner syndrome (ts) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent osteoporosis seen in turner syndrome.

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