The case was male, 32 years old, with a nonobstructive azoospermia diagnosis and an initial 45,X karyotype. We evaluated by classical cytogenetic methods, C and NOR banding, fluorescent in situ hybridization, and polymerase chain reaction investigations. After investigation, we found the following karyotype: 45,X,dic(Y;22)(q11.223;p11.2). This investigation contributes to our understanding of how chromosome rearrangements can influence fertility processes and how important it is to perform a cytogenetic analysis in infertility cases.
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http://dx.doi.org/10.1159/000365010 | DOI Listing |
J Pediatr Adolesc Gynecol
December 2024
Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Israel. Electronic address:
Study Objective: Parents of girls with Turner syndrome (TS) are coping with various challenges associated with caring for a child with a genetic disorder. We aimed to explore the importance of group support for parents of girls with TS in a small pilot study.
Methods: Group support sessions for parents of girls with TS were divided into meetings regarding psychological aspects, medical aspects, and social aspects.
Ital J Pediatr
May 2024
University of Monastir Faculty of Medicine of Monastir, Université de Monastir faculté de medicine de Monastir, Monastir, Tunisia.
Background: we aim to discuss the origin and the differences of the phenotypic features and the management care of rare form of disorder of sex development due to Mosaic monosomy X and Y chromosome materiel.
Methods: We report our experience with patients harboring mosaic monosomy X and Y chromosome material diagnosed by blood cells karyotypes and cared for in our department from 2005 to 2022.
Results: We have included five infants in our study.
J Pediatr Urol
August 2024
Department of Urology, College of Pediatrics, University of South China, Hunan Children's Hospital, No.86 Ziyuan Road, Yuhua District, Changsha, Hunan 410007, China. Electronic address:
Int Cancer Conf J
April 2024
Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-2192 Japan.
Turner syndrome (TS) patients with Y chromosome material face an increased risk of gonadal germ cell tumors (GCTs). This case report discusses the challenges in decision-making regarding prophylactic gonadectomy, considering the risk of malignancy and the desire to preserve fertility. We report a case of a 12-year-old female with mosaic TS and Y chromosome material who initially presented with short stature and obesity.
View Article and Find Full Text PDFJ Laparoendosc Adv Surg Tech A
February 2024
Department of Urology and Hunan Children's Hospital, Changsha, China.
To investigate the use of ureteroscope-assisted laparoscopic surgery (UALS) in treating symptomatic prostatic utricle (PU) in children. Data on surgically treated cases of PU at the Department of Urology in Hunan Children's Hospital between September 2014 and September 2022 were retrospectively collected and analyzed. The diagnosis was confirmed by cystourethroscopy followed by ureteroscopy, and PU was excised by ureteroscope-assisted laparoscopy.
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