临床综述111：家族性性反转：一项综述。 - Suppr

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Clinical review 111: familial sex reversal: a review.

作者信息

Sarafoglou K, Ostrer H

机构信息

Department of Pediatrics, New York University School of Medicine, New York 10016, USA.

出版信息

J Clin Endocrinol Metab. 2000 Feb;85(2):483-93. doi: 10.1210/jcem.85.2.6418.

DOI:10.1210/jcem.85.2.6418

PMID:10690846

Abstract

摘要

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引用本文的文献

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Clinical review 111: familial sex reversal: a review.

作者信息

Sarafoglou K, Ostrer H

机构信息

Department of Pediatrics, New York University School of Medicine, New York 10016, USA.

出版信息

J Clin Endocrinol Metab. 2000 Feb;85(2):483-93. doi: 10.1210/jcem.85.2.6418.

DOI:10.1210/jcem.85.2.6418

PMID:10690846

Abstract

摘要

相似文献

Clinical review 111: familial sex reversal: a review.

J Clin Endocrinol Metab. 2000 Feb;85(2):483-93. doi: 10.1210/jcem.85.2.6418.

46XY siblings with inadequate virilization and CNS deficiency.

Horm Res. 1988;29(5-6):207-10. doi: 10.1159/000181004.

Genetic mechanisms that regulate testis determination.

Rev Endocr Metab Disord. 2004 Mar;5(1):77-82. doi: 10.1023/B:REMD.0000016126.57801.c0.

Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.

J Clin Endocrinol Metab. 1993 May;76(5):1248-53. doi: 10.1210/jcem.76.5.8496317.

Gender assignment and reassignment in 46,XY pseudohermaphroditism and related conditions.

J Clin Endocrinol Metab. 1999 Oct;84(10):3455-8. doi: 10.1210/jcem.84.10.6099.

XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.

Am J Med Genet. 1997 Dec 19;73(3):321-6.

Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.

Pediatr Endocrinol Rev. 2007 Mar;4(3):210-7.

[XY type gonadal dysgenesis, trisomy X and variants].

Nihon Rinsho. 2004 Feb;62(2):309-12.

Sexual quality of life of individuals with disorders of sex development and a 46,XY karyotype: a review of international research.

J Sex Marital Ther. 2010;36(3):193-215. doi: 10.1080/00926231003719574.

Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome.

Eur J Pediatr. 2003 Jan;162(1):36-40. doi: 10.1007/s00431-002-1108-4. Epub 2002 Nov 28.

引用本文的文献

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.

Front Genet. 2022 Aug 30;13:900574. doi: 10.3389/fgene.2022.900574. eCollection 2022.

Mullerian remnants presenting as a pelvic cyst in a young adult with 45X0/46XY mixed gonadal dysgenesis.

Urol Ann. 2021 Jan-Mar;13(1):76-79. doi: 10.4103/UA.UA_91_20. Epub 2021 Jan 19.

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis.

Ann Pediatr Endocrinol Metab. 2019 Dec;24(4):231-236. doi: 10.6065/apem.2019.24.4.231. Epub 2019 Dec 31.

A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both.

J Hum Reprod Sci. 2019 Jul-Sep;12(3):267-269. doi: 10.4103/jhrs.JHRS_14_19.

Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.

Rep Biochem Mol Biol. 2017 Oct;6(1):59-65.

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.

BMC Pediatr. 2016 Nov 29;16(1):195. doi: 10.1186/s12887-016-0737-0.

The laparoscopic management of Swyer syndrome: Case series.

J Turk Ger Gynecol Assoc. 2015 Nov 2;16(4):252-6. doi: 10.5152/jtgga.2015.15061. eCollection 2015.

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.

J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):159-62. doi: 10.4274/jcrpe.1919.

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

Mol Cell Endocrinol. 2014 Aug 5;393(1-2):1-7. doi: 10.1016/j.mce.2014.05.006. Epub 2014 Jun 4.

Gonadal and sex differentiation abnormalities of dogs and cats.

Sex Dev. 2012;6(1-3):46-60. doi: 10.1159/000332740. Epub 2011 Oct 14.