Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation

• Published in: Gynecological endocrinology Vol. 28; no. 9; pp. 733 - 735
• Main Authors: Escamilla-Márquez, Marco Antonio, Garduño-Garcia, José de Jesús, Ordóñez-Sanchez, Maria Luisa, Reza-Albarrán, Alfredo, Tusie-Luna, María Teresa, Gómez Pérez, Francisco Javier, Aguilar-Salinas, Carlos Alberto
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare 01.09.2012; Taylor & Francis
• Subjects: 17α hydroxylase-17 lyase deficiency; Adrenal hyperplasia; Adrenal Hyperplasia, Congenital - complications; Adrenal Hyperplasia, Congenital - genetics; Adrenal Hyperplasia, Congenital - physiopathology; Adult; amenorrhea; Amenorrhea - complications; Amenorrhea - genetics; Amenorrhea - physiopathology; Arginine - genetics; Codon, Nonsense; Female; Humans; Mutation; Steroid 17-alpha-Hydroxylase - genetics
• ISSN: 0951-3590; 1473-0766
• DOI: 10.3109/09513590.2011.652718

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.