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Title: [Pathologic features on gonadal changes of sexual developmental disorders in children].
Author: Yi P, Niu HL, Gao Q, Wang FH, Jia W, Chen ZR, Xia JQ, Li LP, Cao Y, Zeng RX.
Journal: Zhonghua Bing Li Xue Za Zhi; 2018 Jul 08; 47(7):531-535. PubMed ID: 29996319.
Abstract:
Objective: To investigate the pathologic features of gonadal tissues of disorders of sexual development (DSD) in children. Methods: Fifty-three cases of gonadal developmental disorders were collected from July 2015 to August 2017 at Guangzhou Women and Children's Medical Center. Clinical manifestations, karyotypes, sex hormone levels, ultrasound imaging, histology and immunophenotype of gonadal tissues were analyzed. Results: The age of patients ranged from 7 months to 17 years with an average of (50.7 ± 47.1) months. Social genders of the patients included 32 males and 21 females. Forty-eight patients had abnormal sex hormone levels. Clinical presentations included: toward female genitalia in 25 cases, male genitalia tendency in 17 cases and ambiguous external genitalia in 11 cases. Hypospadias was seen in 31 cases and short stature was seen in 8 cases. Chromosomal karyotyping of peripheral blood revealed 23 cases of sex chromosome disorders, 22 cases of 46 XY disorders, of which 3 cases were 5α-reductase deficiency and 8 cases of 46 XX disorders. Ultrasound examination showed cryptorchidism in 30 cases, including 16 cases of unilateral, 14 cases of bilateral and 1 case presenting a huge pelvic tumor. A total of 97 gonadal tissues from 53 cases of DSD were examined, including 9 cases of unilateral and 44 cases of bilateral gonads. Microscopically, 55 gonads (56.7%) showed dysplastic testes including 17 unilateral and 19 bilateral gonads. Fourteen were streak gonads (14.4%) including 8 unilateral and 3 bilateral gonadal tissues. Nine streak gonad with epithelial cord-like structures (9.3%) were found, of which 5 were unilateral and 2 were bilateral lesions. Seven gonads were ovotestis (7.2%), unilateral in 5 cases (the other side of the gonads of ovary in 4 cases, 1 case of dysplastic testes) and bilateral in 1 case. Seven gonads showed follicular-rich ovarian tissue (7.2%). One case showed bilateral dysplastic testes with gonadoblastoma and ectopic adrenal cortex. One case of streak gonad showed epithelial cord-like structures and undifferentiated glandular tissue embedded in malignant mixed germ cell tumors (mixed gonadoblastoma, dysgerminoma, mature teratoma and yolk sac tumor). One case had testicular microlithiasis. Uterus and fallopian tube structures were found in 11 cases. Immunohistochemical stains were performed in 15 cases. D2-40, PLAP and CKIT were expressed in germ cells and Calretinin, WT1 and inhibin were positive in Setoli cells. SALL4 and OCT3/4 were positive in 3 cases. Inhibin highlighted interstitial Leydig cells in 2 cases. GPC3 was positive in yolk sac tumor component. Conclusions: Gonadal dysgenesis presents a broad spectrum of gonadal phenotypes with variable degrees of differentiation. The development of bilateral gonadal tissues has certain variability. Chromosomal karyotypes have no correlation with gonadal phenotypes. Accurate histopathologic diagnosis of gonadal dysgenesis plays an important role in the treatment and prognosis of the patient. 目的： 探讨儿童性发育异常性腺的病理学特征。 方法： 收集广州市妇女儿童医疗中心2015年7月至2017年8月53例性发育异常病例临床表现、染色体核型、性激素水平、影像学、性腺病理形态及免疫表型进行分析。 结果： 53例性发育异常病例就诊年龄7个月至17岁，平均(50.7±47.1)月。社会性别男32例，女21例。性激素水平异常48例，未见异常5例。临床表现，外生殖器倾向女性外阴25例，倾向男性17例，外生殖器性别模糊11例，尿道下裂31例，身材矮小8例。外周血染色体核型分析，性染色体性发育异常23例；46XY性发育异常22例，其中3例基因测序为5α还原酶缺乏症；46XX性发育异常8例。超声检查提示，隐睾共30例，其中单侧16例，双侧14例，盆腔巨大肿瘤1例。送检97份性腺组织来自于53例患者，其中9例送检单侧性腺，44例送检双侧性腺组织。97份性腺中55份见发育不良睾丸(56.7%)，其中单侧17例，双侧19例。14份性腺见条索状性腺(14.4%)，其中单侧8例，双侧3例。9份性腺中见条索状性腺伴上皮索样结构(9.3%)，其中单侧5例，双侧2例。7份性腺为卵睾(7.2%)，其中单侧5例(另侧性腺为卵巢4例，1例为发育不良睾丸)，双侧1例。7份性腺为富含卵泡的卵巢组织(7.2%)。1例为双侧发育不良睾丸伴性腺母细胞瘤及肾上腺皮质异位。1例条索状性腺伴上皮索样结构及未分化性腺组织，并见恶性混合性生殖细胞肿瘤，包括性腺母细胞瘤、无性细胞瘤、成熟性畸胎瘤及卵黄囊瘤成分。1例睾丸微石症。11例见子宫及输卵管结构。免疫表型，15例行免疫组织化学染色，生殖细胞均表达D2－40、胎盘碱性磷酸酶、CKIT，支持细胞Calretinin、WT1及抑制素阳性，其中3例表达SALL4和OCT3/4；2例见间质细胞抑制素阳性；1例GPC3在卵黄囊瘤阳性。 结论： 性腺发育不全包含渐进不断发育分化的广泛谱系的性腺表型；双侧性腺发育具有一定的差异；染色体核型与性腺表型无一致性的对应关系；明确的性腺病理形态学诊断对决定患儿治疗策略及预后具有重要意义。.

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