Mixed gonadal dysgenesis. Apropos of a series of 21 cases

Twenty-one cases of mixed gonadal dysgenesis referred at age 1 to 16 years are studied. External genitalia were in most cases of types III-IV, with a small penis and posterior hypospadias, asymmetrical genital folds containing an externalized testis on one side. The internal genitalia varied according to the degree of dysgenesis of the gonads, and included an uterus and/or a vagina in 18 among the 21 cases. A chromosomal mosaicism XO/XY or XX/XY was found in 11 patients, the other 10 having a normal 46 XY caryotype. Pubertal follow-up was obtained in 10 cases, and showed always a male sexual development, without possibility to exactly evaluate the function of the testis. Choosing the sex assignment is relatively easy in newborns or infants with mixed gonadal dysgenesis. It relies more on anatomy (size of corpora cavernosa, feasibility of urethroplasty or vaginoplasty) than on the results of hormonal measurements. The presence of an Y chromosome is not by itself an argument to choose the male sex. In most cases, the choice of the female sex is the easiest and relies on strong clinical arguments, but it leads unavoidably to suppress both the testis and the dysgenetic gonad.     

Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism—A critical analysis

A 10 year prospective study of 14 patients with mixed gonadal dysgenesis (MGD) and six patients with dysgenetic male pseudohermaphroditism (DMP) is reported. All of them had internal mullerian structures, along with unilateral or bilateral dysgenetic testes, ambiguous external genitalia. Twelve had been brought up as male, nine of whom had a unilateral descended testis. Eight had been reared as females, as they had bilaterally undescended gonads, and ambiguous genitalia. Clinical examination, retrograde genito-urethrography and cytogenetic studies suggested the diganosis in 16 patients, while four were diagnosed on inguino-abdominal exploration for undescended testis. This report delineates more clearly the clinical profile of these orders. All the patients reared as male were assigned the male gender following abdominal gonadectomy, retention of scrotal testis and male genitoplasty. The eight patients who were reared as females underwent bilateral salpingo-gonadectomy and female genitoplasty. This management differs from the usual recommendation that all such children should be reared as females. Ten patients (50%) had maternal history of previous abortion/stillbirth, or drug intake in the first trimester of pregnancy suggesting a role of these factors in the etiology. All cases of DMP had a 46, XY karyotype, while eight of 14 cases of MGD had mosaicism with 45X/46,XY cell lines in blood or gonadal cultures. The clinicopathological features of patients of MGD and DMP were similar. It is suggested that these two disorders represent different spectra of the same disorder. A unifying concept of etiopathogenesis is proposed. This article is based on the presentation in the “International Workshop on Recent Advances in Neonatal Surgery and Intersex Disorders” held at All India Institute of Medical Sciences, New Delhi from March 1–4, 1989.     

Extraskeletal Ewing's sarcoma. Anatomo-clinical study of a new case

A case of extraskeletal Ewing's sarcoma arising in right lumbar region with involvement of epidural space is described in a 16 years old girl. The diagnosis of Ewing's sarcoma was done from cytochemical and electron microscopic studies which showed intra-cellular glycogen granules whereas cytologic and immunological analysis eliminated lymphoid malignancies. This case emphasized the interest of these techniques, adjunctive to routine light microscopic examination for the pursuit of a specific diagnosis in the small round cell neoplasm.     

混合性性腺发育不良的临床特点与误诊分析

目的探讨混合性性腺发育不良(mixed gonadal dysgenesis,MGD)患儿的临床特点、导致误诊的原因及处理方式。方法回顾性分析2013年5月至2018年4月收治的24例MGD患儿的临床资料。24例患儿的年龄在10~39个月,平均21个月;身高71~97 cm,平均83 cm,其中10例患儿身高低于同年龄段平均身高2个标准差;就诊时22例抚养性别为男,2例抚养性别为女。Prader分级Ⅱ级3例,Ⅲ级15例,Ⅳ级6例。分析患儿性激素测定、性发育相关基因检测结果。对8例常规核型分析性染色体为46,XY的患儿采用荧光原位杂交(fluorescence in situ hybridization,FISH)方法复测,光学显微镜观察患儿切除或活检的性腺组织。结果本组患儿AMH值在16.57~189.92 ng/ml,均值为69.42 ng/ml;hCG刺激实验后睾酮值在0.71~8.09 nmol/L,均值为4.93 nmol/L。基因检测发现WT1基因致病突变,合并低蛋白血症和蛋白尿1例,诊断为Denys-Drash综合征。核型分析示,12例核型为45,X/46,XY,10例为46,XY(其中8例完成FISH检查证实性染色体为X嵌合XY),1例为45,X/46,XY/47,XYY,1例为45,X/47,XYY/48,XYYY。24例均存在阴道,22例探查到子宫或半角子宫。送检48份性腺组织,其中24份有发育不良的睾丸,其中1份睾丸性腺中可见未分化性腺组织。19份有纤维条索性腺,1份未分化性腺组织曾被误诊为卵巢。4份可见条索状性腺伴性索状结构。所有性腺组织均未见肿瘤征象。结论MGD患儿以外阴性别模糊多见常伴苗勒管残件。临床中对考虑诊断MGD的患儿不能仅采用染色体核型分析,可疑者应完善外周血FISH性染色体嵌合型检查。MGD患儿性腺病理检查可见未分化性腺类型,病理易将其识别为卵巢组织,从而将混合性性腺发育不良误诊为卵睾型DSD。