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ACTA ENDOCRINOLOGICA (BUC)
The International Journal of Romanian Society of Endocrinology / Registered in 1938in Web of Science Master Journal List
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Acta Endocrinologica (Buc)
Ataikiru U, Iacob R, Chirita-Emandi A, Galinescu M, Miron I, Popoiu C, Boia E
A 10-Year Study of Children with Gonadal Tumors and Disorders of Sex Differentiation, in Romania
Acta Endo (Buc) 2023, 19 (4): 487-496doi: 10.4183/aeb.2023.487
Context. Children having gonadal tumors and
disorder of sex differentiation (DSD) are rare.
Objective. To investigate the presentation of DSD
children with malignant gonadal tumors.
Methods. 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.
Results. 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).
Conclusion. 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.
Keywords: Disorders of sexual differentiation,
testicular tumors, ovarian tumor, children, partial androgen
insensitivity syndrome.
Correspondence: Usiwoma Okeroghene Ataikiru MD, “Victor Babes” University of Medicine and Pharmacy, Pediatric Surgery,
2 Eftimie Murgu Square, Timisoara, Timis, 300041, Romania, E-mail: usiwomaataikiru@yahoo.com