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Table 1 Diagnostic features of cohort

From: Assessing sex assignment concordance with genotype and phenotype

Diagnosis Age range (years) N = 47 (%)
Hypospadius 1-7.75 9 (19.1)
Micropenis 4.5-5.75 4 (7.5)
MGD 0.5-25.75 9 (19.2)
VACTERL 10.75 1 (2.1)
AI 6-21.5 4 (8.5)
Turner 14-20.5 2 (4.3)
PMDS 9.75 1 (2.1)
CAH 4-20.5 8 (17)
Other 3.75-8.5 9 (19.2)
  1. AIS: androgen insensitivity syndrome; CAH: congenital adrenal hyperplasia; MGD: mixed gonadal dysgenesis; PAIS: Partial androgen insensitivity syndrome; PMDS: persistent mullerian duct syndrome;, Other: endocrine or anatomic syndromes, vanishing testes.