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Table 1 Clinical characteristics of 25 patients with familial DSD

From: Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

Case Sex Age at first evaluation Presentation Prader Localization of the meatus Genital tubercle (mm) Testosterone dose (mg) Gonad
       before after   Right Left
1 M 1 d genital ambiguity IV penoscrotal 15×7 30×12 4×25 s i
2 M 1 d genital ambiguity IV glandular 20×10   4×50 s s
3 M 3 d genital ambiguity IV penoscrotal 25×10   4×50 np np
4 M 3 d genital ambiguity IV penoscrotal 20×8 30×10 4×25 i i
5a F 3 d prenatal karyotype 0 normal     np np
6 F 4 d prenatal karyotype I normal     np np
7a M 7 d genital ambiguity IV penoscrotal 13 22×15 3×30 i i
8a M 21 d genital ambiguity III penoscrotal 15×10 30×15 4×40 s s
9 M 0.1 y hypospadias IV penoscrotal 30×25    s s
10 M 0.1 y hypospadias IV penoscrotal 30×10    s s
11 M 0.1 y genital ambiguity IV penoscrotal 20×10 28×10 4×37.5 s s
12 M 0.3 y hypospadias IV distal 35×15    s s
13 M 0.4 y genital ambiguity IV midshaft 25×10   3×50 s s
14 M 0.6 y hypospadias IV penoscrotal 40×15    s s
15 M 0.8 y hypospadias IV penoscrotal 35×15   3×50 i i
16 M 0.9 y hypospadias IV midshaft 40×20    s s
17a F 1.5 y genital ambiguity III penoscrotal 5×5    np np
18 M 1.8 y hypospadias IV glandular 35×10    i s
19 M 3 y hypospadias V midshaft 45×15    s s
20 F 3.5 y genital ambiguity II glandular 18    i np
21 M 3.9 y hypospadias IV glandular 50×15    i s
22 M 7.6 y hypospadias IV glandular 45×15    s s
23 M 10 y hypospadias V penoscrotal 40×12    i i
24 M 13.6 y genital ambiguity IV penoscrotal 75×35    np np
25 M 15 y genital ambiguity IV midshaft 65×25    i i
  1. DSD disorders of sex development, i inguinal, s scrotal, np not palpable
  2. aGenetic mutations
  3. Cases 2,3,11 are brothers and case 25 is their maternal uncle. Cases 16 and 24 have the same mother (see pedigree)