Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

Cunha, Sarah Crestian; Andrade, Juliana Gabriel Ribeiro de; Angelis, Camila M. de; Billis, Athanase; Bustorff‐Silva, Joaquim Murray; Maciel‐Guerra, Andréa T.; Miranda, Márcio Lopes; Guerra‐Júnior, Gil

doi:10.20945/2359-3997000000091

Cited by 6 publications

(10 citation statements)

References 15 publications

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“…Gonadal dysgenesis (GD) is a rare congenital condition considered to be the least clearly classified subgroup of DSD characterized by underdeveloped gonads due to chromosomal abnormalities or gene mutations [ 5 , 6 ]. Generally, three types of GD are distinguished: complete (CGD), characterized by female internal and external genitalia and bilateral streak-like gonads in individuals with 46,XX or 46,XY karyotypes; partial (PGD), identified in patients with 46,XY karyotype by ambiguous genitalia and bilateral dysgenetic testes or a dysgenetic testis and a streak-like gonad; or mixed (MGD), when various anatomical findings in internal and external genitalia are described in individuals with 45,X/46,XY mosaic karyotype or its variants [ 7 ]. In our case the presence of a dysgenetic testis and a streak-like gonad with 45,X/46,XY karyotype confirmed the diagnosis of mixed gonadal dysgenesis [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature

Trainavičius

Dasevičius²,

Burnytė³

et al. 2022

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Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach.Case: We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age.Conclusions: Because of high risk for malignant transformation, gonadectomy of a streak-like gonad and biopsy with orchidopexy or gonadectomy of a dysgenetic testicle is recommended at an early age.

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Section: Discussionmentioning

confidence: 99%

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature

Trainavičius

Dasevičius²,

Burnytė³

et al. 2022

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“…Because of the possibility of neoplasm transformation in patients with 46,XY karyotype and dysgenetic gonads, bilateral gonadectomy should be performed as soon as the diagnosis is made [1,4,5,7,10,19,22,28]. According to various authors, the occurrence of tumours in Swyer syndrome varies from 15% to as much as 55% of cases, with the incidence increasing with age [1,4,11,20].…”

Section: Discussionmentioning

confidence: 99%

“…Its development is associated with the expression of the testisspecific protein, Y-linked gene (TSPY), and with the presence of SRY, SOX9, and WT-1 mutations [1]. Despite being a benign tumour, it may progress further and could be a precursor to malignant germ cell malignancy -usually dysgerminoma [1,4,19,20,28]. It is estimated that half of gonadoblastoma will have malignant transformation [5].…”

Section: Discussionmentioning

confidence: 99%

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A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl

Morawiecka-Pietrzak¹,

Dąbrowska²,

Gliwińska³

et al. 2021

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A disorder of sex development (DSD) is defined as a congenital condition in which development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an example of 46,XY DSD with a female phenotype. It usually becomes apparent in adolescence with delayed puberty and amenorrhoea. Spontaneous breast development is very rare. A 15-year-old girl was presented due to primary amenorrhoea with breast development compatible with Tanner stage V. Hormonal tests revealed hypergonadotropic hypogonadism with low level of oestradiol. Pelvic ultrasound and magnetic resonance imaging revealed a small uterus, and no ovaries were found. In the right lower abdomen, a structure of unknown origin was visible. The chromosome analysis revealed a 46,XY karyotype. The patient was qualified for a laparoscopic bilateral gonadectomy. Postoperative histopathological examination revealed gonadoblastoma. We underline the need to consider DSD 46,XY in the presence of primary amenorrhoea, even when pubertal development is present. Germ cell tumors have a tendency to grow and metastasize rapidly. Delayed diagnosis may increase the risk of malignant transformation and cause a poor diagnosis.

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“…O risco para o desenvolvimento de tumores de células germinativas em pacientes com gônadas disgenéticas é maior após a puberdade, mas há relatos de diagnóstico no primeiro ano de vida; ou ainda em pacientes com cariótipo sanguíneo normal, e mosaicismo 45,X/46,XY detectado apenas ao estudo citogenético gonadal (NISIMA-UCHIDA et al, 2015;MORANDI et al, 2018;CUNHA et al, 2018).…”

Section: Avaliação Das Técnicas De Pesquisa Do Cromossomo Yunclassified

Mosaicismo 45,X/46,XY: características clínicas, citogenéticas e moleculares de pacientes

Cavalcanti¹

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pelo fomento à pesquisa e estrutura; sobretudo aos pacientes, sem os quais este projeto não existiria. A Ester Ramos, querida orientadora, não tenho palavras para agradecer pela empatia, pela oportunidade e pelos ensinamentos: enorme gratidão! A Sonir Antonini, Celso Mendes Júnior e Luciana Castelli, pela colaboração para o aprimoramento deste projeto. A Victor Ferraz, docente, supervisor e amigo, pela paciência, pelo compromisso com o ensino, pela humildade que inspira: fundamentais! Aos docentes Lúcia Martelli e João Pina, médicos geneticistas Lisandra Mesquita, Jair Huber, Clarissa Picanço, Charles Marques e Carlos Henrique; aos residentes e ex-residentes que participaram desse processo; a Márcia, Fátima, Milena, Lucimar, Sarah, Rinaldo e demais. Gratidão por toda a ajuda.

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Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

Cited by 6 publications

References 15 publications

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature

A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl

Mosaicismo 45,X/46,XY: características clínicas, citogenéticas e moleculares de pacientes

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