Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.
A rare cause of congental adrenal hyperplasia is 17α-hydroxylase deficiency. It results in sexual infantilism, primary amenorrhea in females, pseudohermaphroditism in males, hypertension, and hypokalemia. We studied two female siblings from a rural community in Mexico. The cause of consultation was primary amenorrhea. The proband had low levels of estrogen, progesterone and cortisol. Deoxycorticosterone and corticosterone levels were elevated. The proband was homozygous for a transversion of cytosine to thymine at exon 4 (CGA→TGA), causing a premature stop codon at position 239 (R239X). Analysis of family members showed the presence of this heterozygous mutation in the mother, father and one healthy sibling. In summary, we describe a Mexican family with 17α-hydroxylase deficiency due to R239X mutation.
Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubiran" (INCMNSZ), Mexico City, Mexico.
Marco Antonio
MA
Escamilla-Márquez
José de Jesús
Jde J
Garduño-Garcia
Maria Luisa
ML
Ordóñez-Sanchez
Alfredo
A
Reza-Albarrán
María Teresa
MT
Tusie-Luna
Francisco Javier
FJ
Gómez Pérez
Carlos Alberto
CA
Aguilar-Salinas
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D000568:Amenorrhea / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D001120:Arginine / Q000235:genetics; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D009154:Mutation; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
D018389:Codon, Nonsense; D001120:Arginine; D013254:Steroid 17-alpha-Hydroxylase