Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management

Tam, Yuk Him; Wong, Yin Cheong; Pang, Kristine Kit Yi; To, Ka Fai; Yiu, Alice Ka Wah; Wong, Hau Yan; Tsui, Siu Yan Bess; Mou, Jennifer Wai Cheung; Chan, Kin Wai; Lee, Kim Hung

doi:10.1016/j.jpedsurg.2016.03.006

Cited by 21 publications

(23 citation statements)

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“…Immature germ cells are immunohistochemically characterized by increased TSPY expression and prolonged expression of embryonic germ cell markers, including OCT3/4 [31]. The combination of OCT3/4 and TSPY expression is considered valuable for the identification of malignant germ cells in dysgenetic gonads [29, 32–34]. Owing to the unavailability of other biomarkers such as TSPY, the risk of tumours in our study may have been underestimated.…”

Section: Discussionmentioning

confidence: 99%

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

Pan

Song

et al. 2019

BMC Pediatr

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Background The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China. Methods We conducted a retrospective review of the records of 32 patients with 45,X/46,XY mosaicism or variants who were hospitalized from August 2005 to September 2018. The main outcomes measured were growth data, genital phenotype, gonadal function, gonadal position, and histological results. Results A total of 32 patients were included. The age at diagnosis ranged from 0.6 to 16.3 years. Nineteen patients exhibited ambiguous genitalia, 12 had short stature, and 1 showed a lack of breast development. Seventeen patients were raised as males, and 15 were raised as females. The external masculinisation score (EMS) of patients raised as male was 4.5 (1~12) [median (range)]. The EMS of the females was 0 (0~1.5) [median (range)]. Patients showed normal heights under 2 years old, with a height SDS of 0 (− 1.5~1.4) [median (range)]. Growth appeared to decelerate after age 2 years, with SDS decreased to − 2.8 (− 3.0~ − 0.9) [median (range)]. The percentage of short stature was higher in females than in males (76.9% vs 50.0%). Twenty-five patients had gonadal pathological results. Complete gonadal dysgenesis (CGD) and mixed gonadal dysgenesis (MGD) were the most common pathogenic subtypes, accounting for 48.0 and 36.0%, respectively. Ovotesticular tissue was observed in only 4.0% of patients. Gonadoblastoma and positive OCT3/4 results were found in 18.8% of gonads in children over 2 years of age. Palpable gonads accounted for 50% of these. All patients who had gonadoblastoma were raised as females. Conclusions Patients with 45,X/46,XY might have normal heights until 2 years old. Growth decelerations after 2 years of age were common. Patients who are being raised as females seemed to be shorter than males. CGD and MGD were the most common gonadal pathogenic subtypes. The tumour risk is high in these patients, even in palpable gonads and female patients.

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Section: Discussionmentioning

confidence: 99%

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

Pan

Song

et al. 2019

BMC Pediatr

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“…Moreover, the risk of neoplasia of a dysgenetic testicle should also be taken into consideration, because gonadoblastoma is found in high prevalence in patients with 45,X/46,XY mosaicism and dysgenetic gonads; the risk being highest for intraabdominal gonads. 7,10 A regular follow-up with the future necessity of removal of the intra-abdominal testicle if this is dysgenetic has been discussed. Meanwhile, bringing the testis down into the scrotum might potentially improve fertility and allow for better tumor surveillance using ultrasound.…”

Section: Discussionmentioning

confidence: 99%

The Dilemma of Sex of Rearing: A Case of a 45,X/46,XY Neonate with Hydrocolpos

Pesmatzoglou

Kanaka‐Gantenbein

Dermentzoglou

et al. 2019

Journal of Pediatric and Adolescent Gynecology

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“…In addition, gonadoblastoma sometimes secretes sex hormones and causes several clinical manifestations such as precocious puberty (Iliev et al 2002). Hence, to prevent malignant transformation and virilization, dysgenetic gonads with Y chromosomal materials should be removed as soon as possible after the diagnosis is confirmed (Tam et al 2016).…”

Section: Discussionmentioning

confidence: 99%

“…Lack of SOX9 or its missense mutation often results in disorders of sex development (DSD) associated with dysgenetic gonads. Abdominal dysgenetic gonads with Y chromosomal materials can lead to a higher occurrence of gonadoblastoma and malignant tumors (Tam et al 2016). Moreover, excessive sex-hormone production by gonadoblastoma may also result in peripheral precocity.…”

Section: Introductionmentioning

confidence: 99%

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Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies

Morozumi

Ainoya

Takemoto

et al. 2018

Tohoku J. Exp. Med.

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Campomelic dysplasia (CD) is a skeletal dysplasia characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with cleft palate, midface hypoplasia and laryngotrachemomalacia. CD is caused by alterations in the Sex-determining region of the Y chromosome (SRY)-related-box 9 (SOX9), which has important roles in tissue and sexual differentiation. The SOX9 gene and the enhancer regions of SOX9 are located at chromosome 17q24.3. We report a 6-year-old phenotypically female referred to our department because of precocious puberty. The patient was born with Tetralogy of Fallot (TOF) and PRS. Skeletal X-ray examination showed only 11 pairs of ribs and bilateral bowed radiuses. Endocrine evaluations showed that increased levels of serum testosterone, and chromosomal analysis revealed a 46, XY, t(2;17)(p15;q24.2) karyotype. The patient was diagnosed with peripheral precocious puberty caused by over-secretion of testosterone by gonadoblastoma originating from dysgenetic gonads with Y-chromosome-related DSD. Multiple somatic abnormalities and DSD indicated that the patient might have CD. Laparoscopy revealed bilateral dysgenetic gonads, and these were removed in the successive operation to prevent malignant transformation and virilization, caused by dysgenetic gonads with Y chromosomal materials. It is highly suggestive that the chromosomal translocation of 17q 24.2 may cause DSD and multiple somatic abnormalities, including CD, although the identified 17q breakpoint was located outside of known SOX9 enhancer regions. Thus, a hitherto unknown enhancer may be present at 17q24.2. This is the first reported case of CD with a translocation breakpoint at 17q24.2.

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Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management

Cited by 21 publications

References 16 publications

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

The Dilemma of Sex of Rearing: A Case of a 45,X/46,XY Neonate with Hydrocolpos

Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies

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