4,961
Views
6
CrossRef citations to date
0
Altmetric
Congenital Adrenal Hyperplasia in two 46 XX systers

A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters

ORCID Icon, , , , , , , , , , , & show all
Pages 24-29 | Received 26 Apr 2019, Accepted 23 Jul 2019, Published online: 29 Aug 2019

References

  • Oh YK, Ryoo U, Kim D, et al. 17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development. J Pediatr Adolesc Gynecol. 2012;25:e103–e105.
  • Fontenele R, Costa-Santos M, Kater CE. 17α-hydroxylase deficiency is an underdiagnosed disease. High frequency of misdiagnoses in a large cohort of Brazilian patients. Endocr Pract. 2017;24:170–178.
  • Hannah-Shmouni F, Chen W, Merke DP. Genetics of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2017;46:435–458.
  • Grumbach M, Hughes I, Conte F. Williams textbook of endocrinology. In Larsen PR, Kronenb HM, Melmed S, editors. Williams Textbook of Endocrinology. 10th ed. Philadelphia: Saunders; 2003. p. 842–1002.
  • Carvalho LC, de Brito VN, Martin RM, et al. Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects. Fertil Steril. 2016;105:1612–1619.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–424.
  • Costa-Santos M, Kater CE, Auchus RJ. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab. 2004;89:49–60.
  • Breder ISS, Garmes HM, Mazzola TN, et al. Three new Brazilian cases of 17α-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features. J Pediatr Endocrinol Metab. 2018;31:937–942.
  • Santangelo R, González-Andrade F, Børsting C, et al. Analysis of ancestry informative markers in three main ethnic groups from Ecuador supports a trihybrid origin of Ecuadorians. Forensic Sci Int Genet. 2017;31:29–33.
  • Homburger JR, Moreno-Estrada A, Gignoux CR, et al. Genomic insights into the ancestry and demographic history of South America. PLoS Genet. 2015;11:e1005602–e1005626.
  • Paz-y-Miño C, Beaty D, López-Cortés A, et al. Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population. Int J Pediatr Otorhinolaryngol. 2014;78:1648–1654.
  • Fernández-Cancio M, García-García E, González-Cejudo C, et al. Discordant genotypic sex and phenotype variations in two Spanish siblings with 17α-hydroxylase/17,20-lyase deficiency carrying the most prevalent mutated CYP17A1 alleles of Brazilian patients. Sex Dev. 2017;11:70–77.
  • Moreira AC, Leal AMO, Castro M. Characterization of adrenocorticotropin secretion in a patient with 17α-hydroxylase deficiency. J Clin Endocrinol Metab. 1990;71:86–91.
  • Teeuw ME, Hagelaar A, Ten Kate LP, et al. Challenges in the care for consanguineous couples: an exploratory interview study among general practitioners and midwives. BMC Fam Pract. 2012;13:1.
  • Werck-Reichhart D, Feyereisen R. Protein family review Cytochromes P450 : a success story. Genome Biol. 2000;1:1–9.
  • Kardelen AD, Toksoy G, Baş F, et al. A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel mutations. JCRPE J Clin Res Pediatr Endocrinol. 2018;10:206–215.
  • Yanase T, Imai T, Simpson ER, et al. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency. J Steroid Biochem Mol Biol. 1992;43:973–979.
  • Bee YM, Manju C, Papari-Zareei M, et al. Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency. Gynecol Endocrinol. 2012;28:322–325.
  • Wang YP, Zhao YJ, Zhou GY, et al. CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency. Gynecol Endocrinol. 2014;30:456–460.
  • Martinez-Arguelles DB, Papadopoulos V. Epigenetic regulation of the expression of genes involved in steroid hormone biosynthesis and action. Steroids. 2010;75:467–476.
  • Benetti-Pinto CL, Vale D, Garmes H, et al. 17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: laboratory and molecular diagnosis – a case report. Gynecol Endocrinol. 2007;23:94–98.
  • Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J Steroid Biochem Mol Biol. 2017;165:71–78.
  • Richard-Eaglin A. Male and female hypogonadism. Nurs Clin North Am. 2018;53:395–405.