Pure gonadal dysgenesis (46 XX type) with a familial pattern

Kohmanaee, Shahin; Dalili, Setila; Rad, Afagh Hassanzadeh

Pure gonadal dysgenesis (46 XX type) with a familial pattern

Authors

¹ Pediatrics Growth Disorders Research Center, 17th Shahrivar Hospital, School of Medicine, Guilan University of medical sciences, Rasht; Department of Pediatrics endocrinology and Metabolism, Pediatrics Growth Disorders Research Center, 17th Shahrivar Hospital, Guilan University of Medical Sciences, Guilan, Iran

² Pediatrics Growth Disorders Research Center, 17th Shahrivar Hospital, School of Medicine, Guilan University of medical sciences, Rasht, Iran

Abstract

46, XX gonadal dysgenesis without the phenotype of Turner's syndrome is described as "pure". Although, previous investigations obtained that commonly gonadal dysgenesis did not cause breast development as a result of low levels of circulating estradiol. However, in this study, we aimed to report a familial pure gonadal dysgenesis with and without normal secondary sexual characteristics. In this study, we reported three siblings with pure gonadal dysgenesis with and without normal secondary sexual characteristics. The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no breast development (B1) and pubic hair. In addition, it seems that the absence of pubic hair occurred due to delayed constitutional puberty. According to results, it seems that clinicians should consider different presentations for pure gonadal dysgenesis with familial pattern.

Keywords

References

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