Kohmanaee Shahin, Dalili Setila, Rad Afagh Hassanzadeh
Pediatrics Growth Disorders Research Center, 17 Shahrivar Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran ; Department of Pediatrics Endocrinology and Metabolism, Pediatrics Growth Disorders Research Center, 17 Shahrivar Hospital, Guilan University of Medical Sciences, Guilan, Iran.
Pediatrics Growth Disorders Research Center, 17 Shahrivar Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
Adv Biomed Res. 2015 Aug 10;4:162. doi: 10.4103/2277-9175.162536. eCollection 2015.
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.
46,XX型性腺发育不全且无特纳综合征表型的情况被描述为“单纯型”。尽管先前的研究表明，由于循环雌二醇水平低，性腺发育不全通常不会导致乳房发育。然而，在本研究中，我们旨在报告一例具有和不具有正常第二性征的家族性单纯性腺发育不全病例。在本研究中，我们报告了三名患有单纯性腺发育不全且具有和不具有正常第二性征的兄弟姐妹。年龄较大的两个姐妹具有正常女性表型，最小的妹妹闭经，乳房未发育（B1）且无阴毛。此外，阴毛缺失似乎是由于体质性青春期延迟所致。根据结果，临床医生似乎应考虑家族性单纯性腺发育不全的不同表现形式。
