Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism

Poyrazoğlu, Şükran; Baş, Firdevs; Karaman, Birsen; Yildiz, Melek; Başaran, Seher; Darendelıler, Feyza

doi:10.1111/cen.14437

Cited by 6 publications

(10 citation statements)

References 24 publications

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“…The preoperative diagnosis of this disease should be combined with clinical and laboratory endocrine and sex hormone levels, imaging examination, chromosome karyotype and other tests. (11,12); the final diagnosis is based on pathological results. Also, The differential diagnosis is mainly differentiated from other diseases with abnormal gonadal development.…”

Section: Discussionmentioning

confidence: 99%

A Case of Swyer Syndrome Complicated with Left-sided Gonadoblastoma and Asexual Cell Tumor

Zhao

Zhang

et al. 2022

Iran J Radiol

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Introduction: 46,XY pure gonadal dysgenesis (PGD) is also known as Swyer syndrome. The chromosome analysis indicates a 46,XY karyotype. As different degrees of gonadal hypoplasia or degeneration occur in the process of embryonic development due to several factors, gonadal dysplasia or gonadal tumors are probable. Case Presentation: The patient was a 22-year-old female with no menstruation during puberty. Her chest was funnel-shaped, the breast development was classified as Tanner III grade, the vulva was normal, the pubic hair was classified as Tanner II grade, and the vaginal long was 6 cm. The endocrine examination indicated a follicle-stimulating hormone level of 95.0 mIU/mL and an estradiol level of 34.0 pg/mL. Tumor markers, including alpha-fetoprotein (AFP), carbohydrate antigen 125 (CA125), carbohydrate antigen 199 (CA199), and carcinoembryonic antigen (CEA), were normal. Dual-energy X-ray absorptiometry revealed that the bone mineral density was lower than the normal range at this age. Ultrasonography showed a hypoechoic mass in the left adnexal area, considering gonadal tissue with calcification. Pelvic MRI indicated a gonadal malignancy, and the gonadal tissue of the right adnexal area was cord-shaped. The chromosome analysis indicated a 46,XY karyotype. Accordingly, a clinical diagnosis of PGD was established. Moreover, laparoscopic gonadectomy and pathological examination were performed, and a final diagnosis of Swyer syndrome, complicated with a left-sided gonadoblastoma and asexual cell tumor, was made. Conclusion: PGD is associated with a high risk of gonadal tumors. Considering the rarity of this disease, a detailed evaluation of gonadal size and timely preventive gonadectomy are recommended for patients with gonadal dysplasia. Overall, imaging examinations can provide important information for the diagnosis of gonadal dysplasia. MRI can clearly indicate the size and shape of the gonads and the tumor, as well as the relationship between the tumor and the surrounding tissue.

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Section: Discussionmentioning

confidence: 99%

A Case of Swyer Syndrome Complicated with Left-sided Gonadoblastoma and Asexual Cell Tumor

Zhao

Zhang

et al. 2022

Iran J Radiol

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“…The broad range of phenotypical variations in MGD may be explained by the proportion of mosaic karyotype that is expressed in gonadal and other tissue cells [ 14 , 15 ]. Frequently Turner syndrome characteristics are found in individuals with 45,X/46,XY, the presence of 45,X cell line is associated with Turner syndrome fenotype [ 5 , 7 , 15 , 16 ]. Gonadal development and differentiation is determined by the predominant karyotype in gonadal tissue cells.…”

Section: Discussionmentioning

confidence: 99%

“…For streak-like gonads this should be done even if they seem morphologically not involved [ 6 ]. In mosaic 45,X/46,XY patients reared as males with scrotal testis, the risk for germ cell neoplasia is very low, but some cases are reported, therefore, regular examination after biopsy should be included in follow-up protocols [ 16 ]. Orchidopexy with biopsy of testicular part and resection of atypical, usually triangular, dysgenetic testicular outgrowth is advocated.…”

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

AML

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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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“…Thirty-eight patients were scored for external genital virilization according to the EMS. The results showed that the EMS of patients raised as females was 1 (0-3) [median (range)] and that of the males was 7.63 (3)(4)(5)(6)(7)(8)(9)(10)(11) [median (range)] (P = 0.0001 < 0.001) (Table 1).…”

Section: External Genitalia Phenotypementioning

confidence: 99%

“…These patients were divided into a male phenotype group (20 cases) and a female phenotype group (18 cases) according to their external genital phenotype. The EMS of patients raised as female was 1 (0-3) [median (range)], and that of males was 7.63 (3)(4)(5)(6)(7)(8)(9)(10)(11) [median (range)]. EMS < 3 points indicates a female phenotype, and EMS > 3 points indicates a male phenotype.…”

Section: Correlation Analysismentioning

confidence: 99%

Clinical and hormonal characteristics and growth data of 45,X/46,XY mosaicism in 38 Chinese patients

Yang

Пин

2023

Front. Pediatr.

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Backgrounds45,X/46,XY mosaicism is the most common type of sex chromosomal abnormality in disorders of sex development (DSD). We investigated the clinical manifestations, serum sex hormone levels and growth data of 38 45,X/46,XY mosaicism patients, which provides better insight into this disease.MethodsWe prospectively evaluated 38 patients who were diagnosed with 45,X/46,XY mosaicism at the Department of Endocrinology of Shanghai Children's Hospital from 2010 to 2020. We analyzed clinical data from the patients, including hormone levels, height, weight, body mass index (BMI) and gonadal pathology results.ResultsAmong the 38 cases of 45,X/46,XY mosaicism, 18 cases showed a female external genitalia phenotype (the female group) with an external masculinization score (EMS) of 1 (0–3) [median (range)], and 20 cases showed a male external genitalia phenotype (the male group) with an EMS of 7.63 (3–11) [median (range)]. The age at diagnosis ranged from 0.7 to 16.1 years. Under 2 years of age, the standard deviation scores of height (HtSDS) were in the normal range and then they gradually decreased. The inhibin B (INHB), anti-Mullerian hormone (AMH), and testosterone (T) levels after human chorionic gonadotropin (HCG) stimulation and the T:DHT ratio in the male group were significantly higher than those in the female group (P < 0.001). The basal luteinizing hormone (LH), basal follicle-stimulating hormone (FSH), peak LH and peak FSH in females were significantly higher than those in males (P < 0.05). Their height showed a positive correlation with T levels after HCG stimulation (r = 0.636, P < 0.01), T:DHT ratio (r = 0.724, P < 0.01), growth hormone (GH) (r = 0.827, P < 0.05), and insulin-like growth factor 1 (IGF-1) (r = 0.067, P > 0.05) and a negative correlation with gonadal pathology in ovarian tissue (r = −0.663, P < 0.05) and the number of chimaeric XY cells (r = −0.533, P < 0.05).ConclusionsPatients with 45,X/46,XY mosaicism have specific growth patterns. Their HtSDS was in the normal range during 0–2 years of age and then they began to show a short stature after 2 years of age. The probability of short stature in females was higher than that in males. WtSDS were all in the normal range, but below the median. BMISDS was in the normal range, and there was no evidence of obesity. The gonads in the male group retained a certain androgen secretion function, while the gonadal damage is more severe in the female group.

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Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism

Cited by 6 publications

References 24 publications

A Case of Swyer Syndrome Complicated with Left-sided Gonadoblastoma and Asexual Cell Tumor

A Case of Swyer Syndrome Complicated with Left-sided Gonadoblastoma and Asexual Cell Tumor

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

Clinical and hormonal characteristics and growth data of 45,X/46,XY mosaicism in 38 Chinese patients

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