Andrade Juliana Gabriel Ribeiro de, Guerra-Júnior Gil, Maciel-Guerra Andréa Trevas
Universidade Estadual de Campinas, SP, Brasil.
Arq Bras Endocrinol Metabol. 2010 Mar;54(3):331-4. doi: 10.1590/s0004-27302010000300013.
The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infant with 1.3-cm phallus, penoscrotal hypospadias and left prepubertal testis. Karyotype 46,XY (16 cells), normal hormone levels. Right streak gonad, epididymis and müllerian remnants were removed; initial diagnosis was XYPGD. Persistent growth retardation led to further cytogenetic analysis (50 cells) and detection of a 45,X cell line. Detection of a 45,X lineage changed both the diagnosis to MGD and also the prognosis.The number of cells analyzed in karyotyping is critical. Use of MGD and XYPGD to designate both a histological picture and a syndromic diagnosis, results in lack of emphasis on clinical differences between 46,XY and 45,X/46,XY subjects.
本研究的目的是描述一名核型为46,XY的睾丸发育不全患儿在检测到45,X细胞系后诊断和预后的变化，并讨论混合性性腺发育不全（MGD）和XY性部分性腺发育不全（XYPGD）这两个术语所带来的困难。报告了1例病例，包括一名41日龄婴儿的临床和实验室检查结果，该婴儿阴茎长1.3厘米，阴茎阴囊型尿道下裂，左侧青春期前睾丸。核型为46,XY（16个细胞），激素水平正常。右侧条索状性腺、附睾和苗勒管残余物被切除；初步诊断为XYPGD。持续生长发育迟缓导致进一步的细胞遗传学分析（50个细胞）并检测到45,X细胞系。45,X细胞系的检测使诊断变为MGD，同时也改变了预后。核型分析中所分析的细胞数量至关重要。使用MGD和XYPGD来同时指代组织学表现和综合征诊断，导致对46,XY和45,X/46,XY个体之间临床差异的忽视。
