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Table 1 Presentation of different categories of studied DSD Tunisian cohort

From: Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

Classification

Diagnostic criteria

No

Sex chromosome DSD (No = 47)

Azoospermia

42

Atypical genitalia & congenital anomalies

2

Atypical genitalia

3

Autosomal chromosome anomalies

DSD & congenital anomalies

8

46,XY DSD (No = 109)

Atypical genitalia

64

Primary amenorrhea

18

Delayed puberty

8

 

DSD & congenital anomalies

20

Total number 165

  1. Abbreviations: DSD: Disorders of sex development