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Gynecological Endocrinology Volume 40, 2024 - Issue 1
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Case Report

Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report

Qin Yana Reproductive Medicine Center, The affiliated Children’s Hospital of Shanxi Medical University, Children’s Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.ChinaView further author information
,
Huancheng Sub First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. ChinaView further author information
,
Xuan Jingc Department of Clinical Laboratory, Shanxi Provincial People’s Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.ChinaView further author information
,
Sufen Lib First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. ChinaView further author information
,
Xujiao Jib First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. ChinaView further author information
,
Zhiping Zhangb First Hospital of Shangxi Medical University, Taiyuan, Shanxi, P.R. ChinaView further author information
,
Yanni Wangc Department of Clinical Laboratory, Shanxi Provincial People’s Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.ChinaView further author information
,
Xia Huangc Department of Clinical Laboratory, Shanxi Provincial People’s Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.ChinaView further author information
,
Tingting Xuec Department of Clinical Laboratory, Shanxi Provincial People’s Hospital (Fifth Hospital) of Shanxi Medical University, Taiyuan, P.R.ChinaView further author information
,
Xueqing Wua Reproductive Medicine Center, The affiliated Children’s Hospital of Shanxi Medical University, Children’s Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.ChinaORCID Iconhttps://orcid.org/0000-0001-5388-3589View further author information
ORCID Icon &
Xiangrong Cuia Reproductive Medicine Center, The affiliated Children’s Hospital of Shanxi Medical University, Children’s Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, P.R.ChinaCorrespondence[email protected]
View further author information
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Article: 2373741 | Received 14 Nov 2023, Accepted 24 Jun 2024, Published online: 22 Jul 2024

References

  • Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005; 365(9477):2125–2136. doi:10.1016/S0140-6736(05)66736-0.
  • Arlt W, Willis DS, Wild SH, et al. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab. 2010;95(11):5110–5121. doi:10.1210/jc.2010-0917.
  • Gidlöf S, Falhammar H, Thilén A, et al. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. Lancet Diabetes Endocrinol. 2013; 1(1):35–42. doi:10.1016/S2213-8587(13)70007-X.
  • Grinspon RP, Rey RA. Disorders of sex development with testicular differentiation in SRY-negative 46,XX individuals: clinical and genetic aspects. Sex Dev. 2016;10(1):1–11. doi: 10.1159/000445088.
  • van der Straaten S, Springer A, Zecic A, et al. The external genitalia score (EGS): a European Multicenter Validation Study. J Clin Endocrinol Metab. 2020;105(3)
  • Corrigendum to: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2021; Jun 16106(7):e2853. doi:10.1210/clinem/dgab316.
  • Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al. Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management. Endocr Rev. 2022; Jan 1243(1):91–159. doi:10.1210/endrev/bnab016.
  • Kim JH, Choi JH, Kang E, et al. Long-term consequences of congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency in ­adolescents and adults. Exp Clin Endocrinol Diabetes. 2017;125(3):196–201. doi:10.1055/s-0042-123037.
  • Hamidi O, Raman R, Lazik N, et al. Clinical course of adrenal myelolipoma: a long-term longitudinal follow-up study. Clin Endocrinol. 2020; Jul93(1):11–18. doi:10.1111/cen.14188.
  • Nermoen I, Falhammar H. Prevalence and characteristics of adrenal tumors and myelolipomas in congenital adrenal hyperplasia: a systematic review and meta-analysis. Endocr Pract. 2020;26(11):1351–1365. doi:10.4158/EP-2020-0058.
  • 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(5):405–424. doi:10.1038/gim.2015.30.
  • Rohana AG, Ming W, Norlela S, et al. Functioning adrenal adenoma in association with congenital adrenal hyperplasia. Med J Malaysia. 2007;62(2):158–159.
  • Simonetti L, Bruque CD, Fernández CS, et al. CYP21A2 mutation ­update: comprehensive analysis of databases and published genetic variants. Hum Mutat. 2018; 39(1):5–22. doi:10.1002/humu.23351.
  • Jaresch S, Kornely E, Kley HK, et al. Adrenal incidentaloma and ­patients with homozygous or heterozygous congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1992; Mar74(3):685–689. doi:10.1210/jcem.74.3.1311000.
  • Baumgartner-Parzer SM, Pauschenwein S, Waldhäusl W, et al. Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas. Clin Endocrinol (Oxf). 2002; Jun56(6):811–816. doi:10.1046/j.1365-2265.2002.01299.x.
  • Gu YL, Gu WJ, Dou JT[, et al. Clinical features and outcomes of congenital adrenal hyperplasia with adenomatoid adrenal gland. Zhonghua Yi Xue Za Zhi. 2016;96(48):3879–3884.
  • Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015; 39(3):171–187. doi:10.1053/j.semperi.2015.03.002.
  • Fassnacht M, Arlt W, Bancos I, et al. Management of adrenal incidentalomas: European Society of Endocrinology Clinical Practice Guideline in collaboration with the European Network for the study of adrenal ­tumors. Eur J Endocrinol. 2016;175(2):G1–g34. doi:10.1530/EJE-16-0467.

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