Literature DB >> 22814614

Is 46XX karyotype always a female?

Ayesha Ahmad1, Mohammad Asim Siddiqui, Anju Goyal, Subhash Kumar Wangnoo.   

Abstract

A19-year-old man, from a middle east country was referred by his physician to the endocrine department for bilateral gynaecomastia, low libido and sparse facial hair. There was no history of any chronic illness, mumps or traumatic injury to testis. He had clinical features suggestive of gonadotropin deficiency which was confirmed on biochemical testing. On karyotype and fluorescent in situ hybridisation analysis, he was found to have 46XX(SRY+) karyotype.

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Year:  2012        PMID: 22814614      PMCID: PMC4542431          DOI: 10.1136/bcr-2012-006223

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  5 in total

1.  XX SEX CHROMOSOMES IN A HUMAN MALE. FIRST CASE.

Authors:  A DELACHAPELLE; H HORTLING; M NIEMI; J WENNSTROEM
Journal:  Acta Med Scand       Date:  1964

2.  Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature.

Authors:  Berrin Ergun-Longmire; Giovanna Vinci; Lita Alonso; Susan Matthew; Susan Tansil; Karen Lin-Su; Ken McElreavey; Maria I New
Journal:  J Pediatr Endocrinol Metab       Date:  2005-08       Impact factor: 1.634

3.  X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome.

Authors:  M A Ferguson-Smith
Journal:  Lancet       Date:  1966-08-27       Impact factor: 79.321

4.  Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences.

Authors:  C Boucekkine; J E Toublanc; N Abbas; S Chaabouni; S Ouahid; M Semrouni; F Jaubert; M Toublanc; K McElreavey; E Vilain
Journal:  Clin Endocrinol (Oxf)       Date:  1994-06       Impact factor: 3.478

5.  A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.

Authors:  K McElreavey; R Rappaport; E Vilain; N Abbas; F Richaud; S Lortat-Jacob; R Berger; M Le Coniat; C Boucekkine; K Kucheria
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

  5 in total
  4 in total

1.  All males do not have 46 xy karyotype: A rare case report.

Authors:  Ritesh Kumar Agrawala; Arun Kumar Choudhury; Binoy Kumar Mohanty; Anoj Kumar Baliarsinha
Journal:  Indian J Endocrinol Metab       Date:  2013-10

2.  Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome.

Authors:  Meriem Baziz; Zohra Hamouli-Said; Ilham Ratbi; Mohamed Habel; Soukaina Guaoua; Aziza Sbiti; Abdelaziz Sefiani
Journal:  Iran J Public Health       Date:  2016-06       Impact factor: 1.429

3.  Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.

Authors:  Shengfang Qin; Xueyan Wang; Jin Wang
Journal:  Mol Cytogenet       Date:  2022-02-14       Impact factor: 2.009

4.  Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases.

Authors:  Yan Zeng; Jiong Gao; Hua Yuan; Lijun Zhou; Dehua Cheng; Ming Che; Yandi Qian; Jiaming Fan; Lifang Zhang; Feiyan Qian; Yuling Gao; Tingting Luo; Weiping Chen; Ting Wang; Yaoxiang Jin; Jian Zhao; Xiaoliang Shi; Hongmei Li; Haitao Pan; Cheng Xiong; Yunqin Ni; Shuchao Qiu; Tao Zhang
Journal:  Front Genet       Date:  2020-10-14       Impact factor: 4.599

  4 in total

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