Mestre V F, Silveira B C, de Carvalho A F L, Carvalho C S, Salles M J S
State University of Londrina - Postgraduate program in Health Sciences, Department of General Biology, Center for Biological Sciences.
State University of Londrina - Department of General Biology, Center for Biological Sciences, Londrina, Paraná.
Acta Endocrinol (Buchar). 2024 Jan-Mar;20(1):97-102. doi: 10.4183/aeb.2024.97. Epub 2024 Oct 3.
49,XXXXY syndrome is an aneuploidy that affects males and is commonly referred to as a variant of Klinefelter Syndrome. It presents a frequency of 1:85,000 to 100,000 births and an etiology related to non-disjunction of homologous chromosomes. Findings include skeletal abnormalities, hypogonadism, and cognitive impairment. Turner syndrome is also an aneuploidy of the sex chromosomes, which affects women, and has a prevalence of 1:2000 to 2500 births and a phenotype characterized by short stature and sexual infantilism.
The objective of this article was to study the literature, investigate the family members and report the case.
Data collection was based on medical records, family history, karyotype analysis, and FISH analysis.
The karyotype of the proband revealed mos 49, XXXXY[45]/46, XY[5]. The patient's mother is affected by mosaic Turner Syndrome low level and the maternal grandmother by inversion of chromosome 9. The father, the younger brother, and the paternal grandmother present variations in the normality of their chromosomes.
It is important to highlight that the early diagnosis of the syndrome and the initiation of therapy reduce biopsychosocial impairment. Investigation of other family members makes genetic counseling more effective.
49,XXXXY综合征是一种影响男性的非整倍体疾病，通常被认为是克兰费尔特综合征的一种变异型。其在出生中的发生率为1:85,000至100,000，病因与同源染色体不分离有关。临床表现包括骨骼异常、性腺功能减退和认知障碍。特纳综合征也是一种性染色体非整倍体疾病，影响女性，患病率为1:2000至2500，其表型特征为身材矮小和性幼稚。
本文的目的是研究文献、调查家庭成员并报告该病例。
数据收集基于病历、家族史、核型分析和荧光原位杂交（FISH）分析。
先证者的核型显示为mos 49,XXXXY[45]/46,XY[5]。患者的母亲患有低水平的嵌合型特纳综合征，外祖母存在9号染色体倒位。父亲、弟弟和祖母的染色体正常性存在变异。
需要强调的是，该综合征的早期诊断和治疗的启动可减少生物心理社会损害。对其他家庭成员的调查可使遗传咨询更有效。
