Table 4 Analysis of heterozygous patients with 21-hydroxylase deficiency and their families
From: Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Genotype | Sex | Transmission/ Mutation | Clinical expression | Age at diagnosis |
|---|---|---|---|---|
Intron 2, Del 8pb and P30L | Ma | Maternal | Virilization of external genitalia Polyuria/Polydipsia. Insipidus diabetes Dehydration episode | 2 years |
Intron 2 | F | Maternal | Virilization of external genitalia | 30 days |
Hetero G318X and I172N | F | Maternal/ Heterozygous I172N Paternal Heterozygous G318X | Virilization of external genitalia | 3 years |
Hetero Intron 2 and 8pb | M | Maternal/ Heterozygous Intron 2 Paternal Heterozygous P30L | Macrogenitosomy | 3 years |
G318X and I172N | M | Maternal | Macrogenitosomy Scrotal hyperpigmentation | 41 days |
G318X | F | Paternal | Virilization of external genitalia | First year |
G318X | F | Maternal | Early adrenarche | 6 years |
G318X | F | Maternal | Dehydration episode Virilization of external genitalia | 7 days |
G318X | F | Paternal | Precocious pubarche | 5 years |
G318X | F | Paternal | Precocious pubarche | 6 years |