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13 pages, 656 KiB

Open AccessArticle

Non-Syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors: Data of 2610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population

by Judit H. Schultewolter, Anke Rissmann, Dietrich von Schweinitz, Michael Frühwald, Claudia Blattmann, Lars Fischer, Björn Sönke Lange, Rüdiger Wessalowski, Birgit Fröhlich, Wolfgang Behnisch, Irene Schmid, Harald Reinhard, Matthias Dürken, Patrick Hundsdörfer, Martin Heimbrodt, Christian Vokuhl, Stefan Schönberger, Dominik T. Schneider, Guido Seitz, Leendert Looijenga, Ulrich Göbel, Rüdiger von Kries, Heiko Reutter and Gabriele Calaminus Show full author list Hide full author list

Cancers 2024, 16(11), 2157; https://doi.org/10.3390/cancers16112157 - 6 Jun 2024

Cited by 2 | Viewed by 1397

Abstract

GCTs are developmental tumors and are likely to reflect ontogenetic and teratogenetic determinants. The objective of this study was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO [...] Read more.

GCTs are developmental tumors and are likely to reflect ontogenetic and teratogenetic determinants. The objective of this study was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO 98 between 1996 and 2017 were included. According to Teilum’s holistic concept, malignant and benign teratomas were registered. We used a case–control study design with Orphanet as a reference group for syndromic defects and the Mainz birth registry (EUROCAT) for congenital anomalies at birth. Co-occurring genetic syndromes and/or congenital anomalies were assessed accordingly. Odds ratios and 95% confidence intervals were calculated and p-values for Fisher’s exact test with Bonferroni correction if needed. A strong association was confirmed for Swyer (OR 338.6, 95% CI 43.7–2623.6) and Currarino syndrome (OR 34.2, 95% CI 13.2–88.6). We additionally found 16 isolated cases of eGCT with a wide range of syndromes. However, these were not found to be significantly associated following Bonferroni correction. Most of these cases pertained to girls. Regarding non-syndromic defects, no association with eGCTs could be identified. In our study, we confirmed a strong association for Swyer and Currarino syndromes with additional congenital anomalies. Full article

(This article belongs to the Section Pediatric Oncology)

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10 pages, 245 KiB

Open AccessReview

A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review

by Ewa Rudnicka, Aleksandra Jaroń, Jagoda Kruszewska, Roman Smolarczyk, Krystian Jażdżewski, Paweł Derlatka and Anna Małgorzata Kucharska

J. Clin. Med. 2024, 13(3), 785; https://doi.org/10.3390/jcm13030785 - 30 Jan 2024

Cited by 4 | Viewed by 2441

Abstract

A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal [...] Read more.

A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last 15 years suggests that the risk of gonadal tumors could be increased in familial compared to sporadic cases (66.6% vs. 15–45%, respectively). Full article

(This article belongs to the Special Issue Reproductive Endocrinology Topics in Children and Adolescents)

8 pages, 4292 KiB

Open AccessCase Report

Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea

by Elżbieta Sowińska-Przepiera, Mariola Krzyścin, Adam Przepiera, Agnieszka Brodowska, Ewelina Malanowska, Mateusz Kozłowski and Aneta Cymbaluk-Płoska

Int. J. Environ. Res. Public Health 2023, 20(3), 2139; https://doi.org/10.3390/ijerph20032139 - 24 Jan 2023

Cited by 2 | Viewed by 2494

Abstract

Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present [...] Read more.

Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present a case of a 26-year-old patient with Swyer syndrome. The patient had primary amenorrhea and no puberty characteristics. In ultrasound imaging in the vicinity of the uterus, there were two homogeneous structures. A genetic diagnosis was also performed, which showed karyotype 46, XY. The patient underwent a bilateral gonadectomy. Histopathological examination revealed the presence of dysgerminoma in both dysgenetic gonads. The follow-up of five years now did not show any changes suspected of invasion. We concluded that the primary amenorrhea, along with the absence of development of sexual characteristics, should prompt an expanded diagnosis for disorders of sex development. Gonadal dysgerminoma should be suspected even in the absence of tumor features on ultrasound and blood laboratory tests. Early prophylactic gonadectomy could protect patients from developing tumors in dysgenetic gonads. Full article

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7 pages, 2236 KiB

Open AccessCase Report

Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review

by Xinyue Zhang, Ying Zhang, Jinhui Wang, Jie Yang, Shuangni Yu, Min Yin, Sijian Li and Jiaxin Yang

Curr. Oncol. 2022, 29(12), 9753-9759; https://doi.org/10.3390/curroncol29120766 - 8 Dec 2022

Cited by 2 | Viewed by 2181

Abstract

A female phenotype with strip-like gonads, 46, XY pure gonadal dysgenesis (PGD) has a high tendency to develop into gonadal germ cell tumors. We described one patient with 46, XY PGD, who had a gonadal mixed germ cell tumor (GCT) and acute lymphoblastic [...] Read more.

A female phenotype with strip-like gonads, 46, XY pure gonadal dysgenesis (PGD) has a high tendency to develop into gonadal germ cell tumors. We described one patient with 46, XY PGD, who had a gonadal mixed germ cell tumor (GCT) and acute lymphoblastic leukemia (ALL). This is a unique case because two malignancies developed and relapsed in one person with chromosome abnormality, and the patient is the youngest reported so far. There is an association between her GCT and ALL, as the two malignancies may share a common clonal origin and the NRAS mutation likely plays a role in tumor genesis. We organized MDT to formulate a suitable plan of treatment. We completed the surgery and full cycles of chemotherapy for GCT and controlled ALL by chemotherapy and bone marrow transplantation. However, unfortunately, the young life finally ended following a rare transplant rejection. We concluded that ALL likely shares common clonal origin with GCT and that gene mutations may play a role in neoplasia, which requires further exploration. In the face of such complex conditions, we need to balance the treatment of both diseases to prolong survival and improve the patients’ quality of life. Full article

(This article belongs to the Section Gynecologic Oncology)

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8 pages, 3696 KiB

Open AccessCase Report

Challenges in the Diagnosis of XY Differences of Sexual Development

by Žana Bumbulienė, Diana Bužinskienė, Greta Banuškevičienė, Evelina Šidlovska, Eglė Preikšaitienė and Algirdas Utkus

Medicina 2022, 58(12), 1736; https://doi.org/10.3390/medicina58121736 - 27 Nov 2022

Cited by 1 | Viewed by 2573

Abstract

Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen insensitivity syndrome. Case Presentation: The patient’s [...] Read more.

Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen insensitivity syndrome. Case Presentation: The patient’s with primary amenorrhea gynaecological examination and magnetic resonance imaging (MRI) revealed the absence of the uterus and a very short vagina. Two sclerotic structures, similar to ovaries, were recognised bilaterally in the iliac regions. Hormonal assay tests revealed hypergonadotropic hypogonadism and the testosterone level was above normal. The karyotype was 46,XY and a diagnosis of Swyer syndrome was made. At the age of 41, the patient underwent a gynaecological review and after evaluating her tests and medical history, the previous diagnosis was questioned. Therefore, a molecular analysis of sex-determining region Y (SRY) and androgen receptor (AR) genes was made and the results instead led to a definite diagnosis of complete androgen insensitivity syndrome. Conclusions: The presented case illustrates that differentiating between complete gonadal dysgenesis and complete androgen insensitivity can be challenging. A well-established diagnosis is crucial because the risk of malignancy is different in those two syndromes, as well as the timing and importance of gonadectomy. Full article

(This article belongs to the Section Obstetrics and Gynecology)

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11 pages, 1954 KiB

Open AccessArticle

Unique Pulmonary Hypertension in Young Children: A Case Series Study

by I-Chen Chen, Hsiu-Lin Chen, Yi-Ching Liu, Yen-Hsien Wu, Shih-Hsing Lo, Jong-Hau Hsu, Hsin-Ling Yin, Jui-Sheng Hsu, Bin-Nan Wu and Zen-Kong Dai

Children 2022, 9(7), 1064; https://doi.org/10.3390/children9071064 - 17 Jul 2022

Cited by 4 | Viewed by 3548

Abstract

Pediatric pulmonary hypertension (PH) has a similar clinical presentation to the adult disease but is associated with several additional disorders and challenges that require a specific approach for their fulminant course. With improved care for premature infants, various forms of pulmonary vascular disease [...] Read more.

Pediatric pulmonary hypertension (PH) has a similar clinical presentation to the adult disease but is associated with several additional disorders and challenges that require a specific approach for their fulminant course. With improved care for premature infants, various forms of pulmonary vascular disease have been found in children that did not previously exist. Pediatric PH can begin in utero, resulting in pulmonary vascularity growth abnormalities that may persist into adulthood. Here, we retrospectively reviewed several unique pediatric PH cases from 2000 to 2020 at Kaohsiung Medical University Hospital, Taiwan, a tertiary teaching hospital. Their comorbidities varied and included surfactant dysfunction, bronchopulmonary dysplasia, premature closure of the ductus arteriosus, high levels of renin and aldosterone, and Swyer–James–Macleod syndrome. Their clinical profiles, radiological characteristics, echocardiography, pulmonary angiogram, and therapeutic regimens were recorded. Further, because the underlying causes of pediatric PH were complex and markedly different according to age, adult PH classification may not be applicable to pediatric PH in all settings. We also classified these cases using different systems, including the Panama classification and the Sixth World Symposium on PH, and compared their advantages and disadvantages. Full article

(This article belongs to the Section Pediatric Cardiology)

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11 pages, 28752 KiB

Open AccessCase Report

A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome—An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis

by Izabela Winkler, Ilona Jaszczuk, Marek Gogacz, Piotr Szkodziak, Tomasz Paszkowski, Katarzyna Skorupska, Michał Ciebiera and Maciej Skrzypczak

Int. J. Environ. Res. Public Health 2022, 19(9), 5027; https://doi.org/10.3390/ijerph19095027 - 20 Apr 2022

Cited by 5 | Viewed by 5240

Abstract

Background: The aim of the present study is to report a rare occurrence of a successful twin pregnancy in a woman with pure 46,XY gonadal dysgenesis. Result(s): A patient with Swyer syndrome (pure 46,XY gonadal dysgenesis) presented with a twin pregnancy after in [...] Read more.

Background: The aim of the present study is to report a rare occurrence of a successful twin pregnancy in a woman with pure 46,XY gonadal dysgenesis. Result(s): A patient with Swyer syndrome (pure 46,XY gonadal dysgenesis) presented with a twin pregnancy after in vitro fertilization. Due to unidentified conditions, the patient developed selective intrauterine growth restriction in one of the fetuses. Twins were born at 33 weeks of pregnancy due to the risk of asphyxia. Nonetheless, the patient did not develop gonadal malignancies before the pregnancy and, despite receiving estrogen, remained amenorrheic. Conclusion(s): The aim of this case report is to show the course of twin pregnancy in patients with Swyer syndrome through assisted reproduction. Due to certain disorders in the development of their reproductive organs, such as the less mature uterus, such pregnancies may be associated with an increased risk. The above case report demonstrates the need to systematize methods of pregnancy management in patients with Swyer syndrome, such as: preparation for the pregnancy, assessment of the uterus, medications used, and necessary checkups. Capsule: This case report and review shows clinicians that patients with Swyer syndrome may become pregnant. Twin pregnancies may occur without any major problems through assisted reproduction. Full article

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2 pages, 618 KiB

Open AccessCase Report

Swyer-James Syndrome in a 7-Year-Old Female

by Jun Mori, Daisuke Kaneda, Atsushi Fujiki, Kenichi Isoda, Tomoya Kotani and Yo Ushijima

Pediatr. Rep. 2016, 8(3), 6643; https://doi.org/10.4081/pr.2016.6643 - 3 Oct 2016

Cited by 4 | Viewed by 766

Abstract

Swyer-James syndrome is a rare syndrome that occurs as a result of repeated bronchiolitis and pneumonitis in childhood. Most cases are asymptomatic, and subsequent diagnosis may not occur until adulthood. We present the case of a 7-year-old female with Swyer-James syndrome, which was [...] Read more.

Swyer-James syndrome is a rare syndrome that occurs as a result of repeated bronchiolitis and pneumonitis in childhood. Most cases are asymptomatic, and subsequent diagnosis may not occur until adulthood. We present the case of a 7-year-old female with Swyer-James syndrome, which was initially diagnosed and treated as asthma. The patient developed respiratory distress and atelectasis which were treated with biphasic cuirass ventilation. This case suggests that Swyer-James syndrome should be a concern in patients with chronic cough and wheezing, and highlights the importance of taking a careful history and appropriate radiological investigations for diagnosis. Once Swyer-James syndrome is diagnosed, prophylaxis and appropriate management of respiratory infections becomes important. Full article

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