Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.
Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these conditions in terms of phenotype and prognosis.
Method: All patients with a diagnosis of testicular dysgenesis who were seen in our service between 1989 and 2013 were selected. Patients were divided in two groups (with and without a 45,X cell line), which were compared in regard to gonadal histology, anatomy of external and internal genitalia, gonadal hormone function; growth, puberty and fertility prognosis. Our sample included 61 patients, 25 with mosaicism (MGD) and 36 with an homogenous 46,XY karyotype (PGD).
Results: There were no differences between the groups in terms of age at the first visit, gestational and family history, degree of external virilization, position and histology of gonads, gonadal hormone function, spontaneous pubertal development and need for hormonal replacement, presence of associated conditions and fertility prognosis. There were significant difference regarding sex of rearing (more often female in MGD); presence of uterus (more common in MGD); higher maternal age (in PGD); lower birth weight and length (in MGD) and short stature (more frequent in MGD).
Conclusion: PGD and MGD were indistinguishable in terms of gonadal histology and function and genital features, except for the higher frequency of uterus in MGD. They did differ in terms of pre and post-natal growth; in this regard, patients with MGD require specific therapeutic measures. Therefore, the old classification based on histological findings should be abandoned in favor of that based on chromosome constitution, and screening for a 45,X lineage should be thorough in all patients with 46,XY testicular dysgenesis.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology