A case of mixed gonadal dysgenesis with anaplastic seminoma is herein reported. A 38-years-old man was admitted to our hospital with the chief complaint of a painful mass, 19.0 cm in long diameter in his lower abdomen. At 11, 13 and 14 years old he had the history of treatment for an ambiguous external genitalia and defect of both scrotal contents. In the concrete, laparotomy, chordectomy and urethroplasty were performed at those times and the laparotomy revealed a right immature abdominal testis and Müllerian structures. Laboratory examination revealed elevated levels of serum lactic dehydrogenase and HCG. The karyotype from the cultured lymphocyte was that of a normal male. Because the histological finding of biopsied abdominal tumor was shown to be an anaplastic seminoma, firstly two courses of chemotherapy using cisplatin vinblastine and bleomycin were induced, and that after an extensive resection for the tumor and Müllerian structure including some portions of surrounding tissue was performed. We reviewed 40 cases of mixed gonadal dysgenesis reported previously in the Japanese literature and 8 cases of that with a gonadal tumor.
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Cureus
December 2024
Department of Occupational Therapy, Grand Valley State University, Grand Rapids, USA.
Parsonage-Turner syndrome (PTS) is a rare brachial plexus neuropathy with a sudden onset of upper extremity pain, weakness, and loss of range of motion (ROM). Studies on occupational therapy (OT) interventions are limited. The aim of this case report was to explore the OT experiences, interventions, and outcomes of a patient with PTS.
View Article and Find Full Text PDFAndrology
January 2025
Division of Pediatric Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Background: 46, XY disorders of sex development (DSD) are a group of highly heterogeneous conditions in which the molecular etiology remains unknown in a significant proportion of patients, even with massive parallel sequencing. Clinically significant copy number variants (CNVs) are identified in 20-30% of cases, particularly among those with gonadal dysgenesis (GD) and no molecular diagnosis.
Methods: Fourteen patients with 46, XY DSD due to GD in whom no pathogenic/likely pathogenic variants were found on next-generation sequencing using a targeted panel of 155 genes were screened for clinically significant CNVs using Affymetrix Comparative Genomic Hybridization (CGH).
Am J Med Genet A
January 2025
NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature.
View Article and Find Full Text PDFJ Hand Surg Eur Vol
January 2025
Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Florida College of Medicine, Gainesville, FL, USA.
Parsonage-Turner Syndrome after COVID-19 infection or vaccination is rare. Motor, sensory deficits and neuropathic pain may result from inflammation and compression around the brachial plexus. Early surgical intervention in patients with significant motor deficits may result in improved outcomes.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Research Area for Innovative Therapy in Endocrinology, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD). The availability of an unlimited amount of recombinant GH (rhGH) allowed for investigating the efficacy of its therapeutic use in a number of conditions other than GHD. Nowadays, patients with Turner syndrome, deficiency, Noonan syndrome, Prader-Willi syndrome, idiopathic short stature, chronic kidney disease, and children born small for gestational age can be treated with rhGH in order to improve adult height.
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