Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports

Abstract

Purpose To investigate the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene. Methods Chromosome karyotyping for peripheral blood culture and multi-PCR and FISH were performed. Results Endocrinological data showed that their endocrine hormone levels were similar to that observed for Klinefelter syndrome, with higher FSH and LH levels and lower T levels. Chromosome karyotyping for peripheral blood culture revealed 46, XX complement for 11 males. Molecular studies showed that there were locus deletions at SY84, SY86, SY127, SY134, SY254 and SY255 in AZF on chromosome Y in 9 cases, with the SRY gene present at the terminus of the X chromosome short arm. In one case, besides 6 locus deletions in AZF, there was also SRY gene deletion. In another case, there were locus deletions only at SY254 and SY255, with SY84, SY86, SY127 SY134 loci and SRY present. Conclusions The majority (10/11) of 46,XX males were SRY positive, with the SRY gene translocated into the terminus of the X chromosome short arm. These patients were caused mainly by an X/Y chromosomal inter-change during paternal meiosis, leading to the differentiation of primary gonads into testes. Only a single patient (1/11) was SRY-negative, in which there might be some unknown downstream genes involved in sex determination.

Male Factor Infertility: Clues to Diagnose 46, XX Male

“…In a study involving 11 genetically proven XX male patients, the heights were between 160 and 165 cm with a mean of 161 cm, which matches the auxological findings of our patients. The appearance of the external genitalia of our patients are also identical to that particular cohort with normal masculinization and small testes [2].…”

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review

“…Screening of study titles and abstracts revealed 47 articles potentially eligible for inclusion; a further assessment based on the full-text led to the exclusion of 10 papers (Figure 1). The 37 selected studies described 64 adult patients with XX male syndrome [5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41].…”

46,XX males: a case series based on clinical and genetics evaluation

“…Most patients (85%) were generally diagnosed after puberty during consultation being referred to a specialist because of hypogonadism, gynaecomastia and/or infertility. They have a normal male phenotype at birth (Gao et al., ). Approximately 15% of XX males had hypospadias, severe genital ambiguity or cryptorchidism (de la Chapelle, ).…”