%0 Journal Article
%T A 10-YEAR STUDY OF CHILDREN WITH GONADAL TUMORS AND DISORDERS OF SEX DIFFERENTIATION, IN ROMANIA.
%A Ataikiru U
%A Iacob R
%A Chirita-Emandi A
%A Galinescu M
%A Miron I
%A Popoiu C
%A Boia E
%J Acta Endocrinol (Buchar)
%V 19
%N 4
%D 2023 Oct-Dec
%M 38933245
%F 1.104
%R 10.4183/aeb.2023.487
%X <B>UNASSIGNED: </B>Children having gonadal tumors and disorder of sex differentiation (DSD) are rare.<BR><B>UNASSIGNED: </B>To investigate the presentation of DSD children with malignant gonadal tumors.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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).<BR><B>UNASSIGNED: </B>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.