5[alpha]-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort

Clinical records (n = 24) with an established diagnosis of 5[alpha]-reductase-2 deficiency were reviewed. A previous misdiagnosis was present in about 70% (period from first observation to definitive diagnosis: 9.1 ± 10.8 years), and in 8 children gonadal removal was performed before certain diagnos...

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Veröffentlicht in:	Sexual development 2016-05, Vol.10 (1), p.28
Hauptverfasser:	Bertelloni, Silvano, Baldinotti, Fulvia, Russo, Gianni, Ghirri, Paolo, Dati, Eleonora, Michelucci, Angela, Moscuzza, Francesca, Meroni, Silvia, Colombo, Ilaria, Sessa, Maria R, Baroncelli, Giampiero I
Format:	Artikel
Sprache:	eng
Schlagworte:	46, XY disorders of sex development Care and treatment Diagnosis Statistics
Online-Zugang:	Volltext
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