■患有性腺肿瘤和性别分化障碍(DSD)的儿童很少见。
■探讨DSD患儿合并恶性性腺肿瘤的表现。
■一项2010-2020年的回顾性研究,评估了17名DSD儿童,包括13名女性,8个月到16年,先天性肾上腺增生,5-α还原酶缺乏症,雄激素不敏感综合征,特纳,Sywer,和Klinefelter综合征.
■10名儿童患有恶性性腺肿瘤;9名患有生殖细胞肿瘤,1名患有颗粒细胞肿瘤,而7名非恶性肿瘤患儿有性腺母细胞瘤,囊腺瘤(5名儿童),和囊肿。系统性畸形,肥胖,肿瘤标志物升高,90%的人观察到社会心理问题,90%,70%,与28.6%不同,50%的儿童患有恶性肿瘤,42.9%,14.35%,57.1%的儿童无恶性肿瘤。大多数(9/10)儿童>12岁,有心理社会问题,与0/7≤12岁的儿童不同。从8/17出现症状提示肿瘤的儿童,75%有恶性肿瘤,而来自9/17的DSD儿童,44%有恶性肿瘤。在八个月至六岁之间的3/10儿童中观察到恶性肿瘤,而7/10儿童有1-2期肿瘤。我们报告了一个孩子,被认定为女性,13岁,部分雄激素不敏感综合征(PAIS)46,XY,和睾丸乳头状浆液性囊腺瘤,基因组变异ARNM_000044.4:c.2750del。p。(F917Sfs*27)染色体Xq12,从未在患有PAIS或人口数据库(GnomAD)的人中发表。
■DSD诊断提出了许多挑战。患有DSD的人患恶性肿瘤的风险增加,特别是当肥胖和,存在系统性畸形;还有,这些儿童的社会心理问题与青春期后年龄有关。
UNASSIGNED: Children having gonadal tumors and disorder of sex differentiation (DSD) are rare.
UNASSIGNED: To investigate the presentation of DSD children with malignant gonadal tumors.
UNASSIGNED: A retrospective study from 2010-2020, that evaluated 17 children with DSD, including 13 females, eight months to 16 years, with congenital adrenal hyperplasia, 5-alpha reductase deficiency, androgen insensitivity syndrome, Turner, Sywer, and Klinefelter syndromes.
UNASSIGNED: Ten children had malignant gonadal tumor; nine had germ cell tumors and one person granulosa cell tumors, while seven children with non-malignant tumor had gonadoblastoma, cystadenoma (five children), and cysts. Systemic malformations, obesity, elevated tumor markers, and psychosocial issues were observed in 90%, 90%, 70%, and 50% of children with malignancy unlike 28.6%, 42.9%, 14.35%, and 57.1% children without malignancy respectively. Most (9/10) children >12 years, had psychosocial issues, unlike 0/7 children ≤12 years. From 8/17 children presenting with symptoms suggestive of tumor, 75% had malignancy, while from 9/17 children with DSD presentation, 44% had malignant tumors. Malignancy was observed in 3/10 children between eight months to age six, while 7/10 children had stage 1-2 tumors. We reported a child, identified as female, aged 13 years, with partial androgen insensivity syndrome (PAIS) 46,XY, and testicular papillary serous cystadenoma with genomic variant AR NM_000044.4:c.2750del. p.(F917Sfs*27) chromosome Xq12, never published in people with PAIS nor population databases (GnomAD).
UNASSIGNED: DSD diagnosis raises numerous challenges. People with DSD have increased risk of malignancy, especially when obesity and, systemic malformations are present; also, psychosocial issues in these children are associated with postpubertal age.