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17α-HYDROXYLASE/17,20-LYASE DEFICIENCY

A new compound heterozygous mutation in a female with 17α-hydroxylase/17,20-lyase deficiency, slipped capital femoral epiphysis, and adrenal myelolipoma

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Pages 385-389 | Received 03 Aug 2018, Accepted 22 Oct 2018, Published online: 07 Jan 2019

References

  • El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017;390:2194–2210.
  • Kim YM, Kang M, Choi JH, et al. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism. 2014;63:42–49.
  • Falhammar H. Successful fertility outcome in a woman with 17a-hydroxylase deficiency. Clin Endocrinol. 2018;88:607–609.
  • Goldsmith O, Solomon DH, Horton R. Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome. N Engl J Med. 1967;277:673–677.
  • Miller WL. The syndrome of 17,20 lyase deficiency. J Clin Endocrinol Metab. 2012;97:59–67. PubMed PMID: 22072737; PubMed Central PMCID: PMCPMC3251937.
  • Schwab KO, Moisan AM, Homoki J, et al. 17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister. J Pediatr Endocrinol Metab. 2005;18:403–411.
  • Ucpunar H, Camurcu IY, Duman S, et al. Obesity-related metabolic and endocrine disorders diagnosed during postoperative follow-up of slipped capital femoral epiphysis. Acta Orthop. 2018;89:314–319.
  • Kotoura Y, Fujiwara Y, Hayashida T, et al. Valgus slipped capital femoral epiphysis in patient with hypopituitarism. Case Rep Orthop. 2017;2017:1. PubMed PMID: 28154765; PubMed Central PMCID: PMCPMC5244004 consultancies, stock ownership, equity interest, and patent/licensing arrangements) that might pose a conflict of interest in connection with the submitted manuscript.
  • Sankar K, Kyono W, Raffel C, et al. Suprasellar germinoma presenting with slipped capital femoral epiphysis: case report. Cureus. 2017;9:e1954. PubMed PMID: 29487768; PubMed Central PMCID: PMCPMC5815654.
  • Monno S, Mizushima Y, Toyoda N, et al. A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency. Ann Hum Genet. 1997;61:275–279.
  • Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man. J Clin Invest. 1966;45:1946–1954. PubMed PMID: 4288776; PubMed Central PMCID: PMCPMC292880.
  • Yang J, Cui B, Sun S, et al. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. J Clin Endocrinol Metab. 2006;91:3619–3625.
  • Tao H, Lu ZL, Zhang B, et al. Study on the genetic mutations of 17 alpha-hydroxylase/17,20-lyase deficiency in Chinese patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23:125–128.
  • Hahm JR, Kim DR, Jeong DK, et al. A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency. Metabolism. 2003;52:488–492.
  • Yao F, Huang S, Kang X, et al. CYP17A1 mutations identified in 17 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency. Gynecol Endocrinol. 2013;29:10–15.
  • Qiao J, Chen X, Zuo CL, et al. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency. Clin Endocrinol. 2010;72:312–319.
  • Liu BL, Qiao J, Chen X, et al. Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26:282–287.
  • Han B, Liu W, Zuo CL, et al. Identifying a novel mutation of CYP17A1 gene from five Chinese 17alpha-hydroxylase/17, 20-lyase deficiency patients. Gene. 2013;516:345–350.
  • Nourbakhsh A, Ahmed HA, McAuliffe TB, et al. Case report: bilateral slipped capital femoral epiphyses and hormone replacement. Clin Orthop Relat Res. 2008;466:743–748. PubMed PMID: 18264862; PubMed Central PMCID: PMCPMC2505232.
  • Song KS, Lim YW, Ok IY, et al. Delayed-onset of slipped capital femoral epiphysis. J Orthop Sci. 2015;20:78–86.
  • Peck DM, Voss LM, Voss TT. Slipped capital femoral epiphysis: diagnosis and management. Am Fam Physician. 2017;95:779–784.
  • Hu MH, Jian YM, Hsueh YT, et al. Slipped capital femoral epiphysis in an adult with panhypopituitarism. Orthopedics. 2011;34:222.
  • Marquez D, Harb E, Vilchis H. Slipped capital femoral epiphysis and hypothyroidism in a young adult: a case report. J Med Case Rep. 2014;8:336. PubMed PMID: 25304936; PubMed Central PMCID: PMCPMC5011917.
  • Sanders R, Bissada N, Curry N, et al. Clinical spectrum of adrenal myelolipoma: analysis of 8 tumors in 7 patients. J Urol. 1995;153:1791–1793.
  • Celejewski K, Pogorzelski R, Toutounchi S, et al. Adrenal incidentaloma – diagnostic and treating problem – own experience. Open Med. 2018;13:281–284.
  • Jaresch S, Kornely E, Kley HK, et al. Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1992;74:685–689.
  • Falhammar H, Torpy DJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as adrenal incidentaloma: a systematic review and meta-analysis. Endocr Pract. 2016;22:736.
  • Cho GR, Chueh HW, Kim JP, et al. A case of congenital adrenal hyperplasia combined with a testicular adrenal rest tumor and adrenal incidentaloma. J Korean Endocr Soc. 2007;22:365–370.
  • Condom E, Villabona CM, Gómez JM, et al. Adrenal myelolipoma in a woman with congenital 17-hydroxylase deficiency. Arch Pathol Lab Med. 1985;109:1116–1117.
  • Patocs A, Liko I, Varga I, et al. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling. J Steroid Biochem Mol Biol. 2005;97:257–265.
  • Mahmood S, Ghanbar Ali RJ. Seventeen alpha-hydroxylase deficiency associated with absent gonads and myelolipoma: a case report and review of literature. Iran J Med Sci. 2016;41:543–547.
  • Oksnes M, Ross R, Lovas K. Optimal glucocorticoid replacement in adrenal insufficiency. Best Pract Res Clin Endocrinol Metab. 2015;29:3–15.

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