Nonimmune hydrops fetalis(NIHF) is a heterogenous disorder resulting from a vast number of underlying pathologies. Chromsomal abnormalities underlie a large percentage of cases of NIHF in most series. There are many reports identifying the association of Turner syndrome and Trisomy 21, 18, 13 with NIHF, but few reports about Klinefelter syndrome. In this article, we experienced a case of Klinefelter syndrome combined with hydrops fetalis and report the case with brief review of literature.
Down Syndrome ; Edema* ; Hydrops Fetalis* ; Klinefelter Syndrome* ; Pathology ; Turner Syndrome

Patients with non-obstructive azoospermia was once considered to be infertile due to impaired testicular spermatogenesis and consequent absence of sperm in the ejaculate. With the advent of intracytoplasmic sperm injection (ICSI), various testicular sperm retrieval techniques have been introduced recently, including fine needle aspiration, testicular sperm extraction, microdissection testicular sperm extraction, and so on. A large number of studies show that sperm can be retrieved in non-obstructive azoospermia patients, even in those with Klinefelter syndrome, because of the existence of isolated regions of spermatogenic tissue within the testis. 2010 EAU guidelines on male infertility recommend testicular sperm extraction or microdissection testicular sperm extraction for sperm retrieval from non-obstructive azoospermia. However, compared with testicular sperm extraction, the latter has a higher sperm retrieval rate with minimal postoperative complications. This article presents an overview on the prediction, operative procedure, sperm retrieval rate and postoperative complications of microdissection testicular sperm extraction.
Azoospermia ; pathology ; Humans ; Klinefelter Syndrome ; pathology ; Male ; Microdissection ; Sperm Retrieval ; Spermatozoa ; Testis ; pathology

Objective: To investigate the clinicopathological characteristics of testicular biopsies from Klinefelter syndrome (KS) patients. Methods: The testicular biopsy specimens of 87 patients with KS (a total of 107 biopsy specimens) were collected from the Department of Pathology, Peking University Third Hospital, Beijing, China from January 2017 to July 2022. All patients were diagnosed as KS by peripheral blood karyotyping analysis. The testicular histopathologic features, testicular volume and hormone levels were evaluated retrospectively. The histopathologic analysis was used to assess the quantity and morphology of Leydig cells, the spermatogenic state of seminiferous tubules, the thickening of the basement membrane of seminiferous tubules and the changes of stroma. Results: Leydig cell proliferative nodules were seen in 95.3% (102/107) of KS testicular biopsy tissues. The eosinophilic inclusion bodies and lipofuscin in Leydig cells were found in 52.3% (56/107) and 57.9% (62/107) of specimens, respectively. The Sertoli cell only seminiferous tubules and the hyalinized tubules were found in 66.4% (71/107) and 76.6% (82/107) of the examined tissues, respectively. The tubules with complete spermatogenic arrest were found in 15.9% (17/107) of specimens, and 5.6% (6/107) of the specimens showed low spermatogenesis or incomplete spermatogenic arrest. In 85.0% (91/107) of the specimens, increased thick-walled small vessels with hyaline degeneration were identified. Conclusions: The most common features of KS testicular specimens are Leydig cell proliferative nodules, hyaline degeneration of seminiferous tubules and proliferation of thick-walled blood vessels. Testicular biopsy specimens of KS are rare. The pathologists can make a tentative diagnosis of KS based on the histological findings, combined with the ultrasound and laboratory results, which is helpful for further diagnosis and treatment of KS.
Male ; Humans ; Testis/pathology* ; Klinefelter Syndrome/pathology* ; Retrospective Studies ; Seminiferous Tubules/pathology* ; Biopsy

Klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. Mediastinum is the most favored site of extragonadal germ cell tumors with KS, which is somewhat different from those without KS. The retroperitoneal germ cell tumor in KS is very rare. A five-month-old boy with an abdominal mass was found to have a retroperitoneal tumor. After surgical removal, he was diagnosed to have mature cystic teratoma. Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. This case suggests that patients with KS might be at risk of having germ cell tumors in sites other than mediastinum. It also suggests that all cases with these tumors should be screened for the presence of karyotypic abnormalities, and it might help to assess the exact correlation between germ cell tumors and KS, and to treat them accordingly.
Case Report ; Human ; Infant ; Karyotyping ; Klinefelter's Syndrome/genetics ; Klinefelter's Syndrome/complications* ; Male ; Retroperitoneal Neoplasms/pathology ; Retroperitoneal Neoplasms/complications* ; Teratoma/pathology ; Teratoma/etiology*

Klinefelter's syndrome is one of the most common forms of primary hypogonadism and infertility in males. It is characterized by small and firm testes, gynecomastia, azoospermia, and an elevated gonadotropin level. The frequencies of diabetes mellitus, breast cancer, and germ cell neoplasia increases in Klinefelter's syndrome. We report upon a 35 year-old male patient with Graves' disease in association with Klinefelter's syndrome; as confirmed by chromosome analysis. The patient is being treated with antithyroid medication for Graves' disease and by testosterone replacement for Klinefelter's syndrome.
Adult ; Graves' Disease/*etiology/radionuclide imaging ; Human ; Hypogonadism/*etiology/genetics/pathology ; Klinefelter Syndrome/*complications/genetics/pathology ; Male

OBJECTIVETo study the feasibility of simultaneous detection for several chromosomes with optimized triple-color primed in situ labelling (PRINS) protocol in cultured peripheral blood lymphocytes.

METHODSPre-test of gonosome detection with dual-color PRINS protocol was performed to explore and optimize the order and condition of PRINS primers. A peripheral blood sample from a Klinefelter's syndrome patient (47, XXY) had also been studied with optimized triple-color PRINS to prove the correspondence between the number of signals and chromosomes.

RESULTSChromosome 18, X and Y had been simultaneously and specifically marked within 3 hours. The frequency of successful labeling reached 90% both in dual-color and triple-color test. Two chromosome X had been correctly showed in lymphocyte sample of Klinerfelter's syndrome.

CONCLUSIONNumerical chromosome anomalies could be rapidly and exactly detected with this non-ddNTP-blocking multicolor PRINS protocol in peripheral blood lymphocytes. The results of in situ labeling are much clearer with inner control.

Cells, Cultured ; Chromosomes, Human ; genetics ; Color ; Feasibility Studies ; Humans ; Klinefelter Syndrome ; genetics ; pathology ; Lymphocytes ; cytology ; metabolism ; pathology ; Male ; Metaphase ; genetics ; Primed In Situ Labeling ; methods ; Sensitivity and Specificity

No abstract available.
Bone Marrow Cells/pathology ; Chromosomes, Human, X/*genetics ; Hematologic Neoplasms/*etiology/genetics ; Humans ; Immunophenotyping ; Karyotyping ; Klinefelter Syndrome/*complications/*genetics ; Male ; Middle Aged ; Mosaicism ; Tomography, X-Ray Computed

Biomarkers ; blood ; Child ; Chorionic Gonadotropin ; blood ; Follicle Stimulating Hormone ; blood ; Growth Disorders ; etiology ; Humans ; Klinefelter Syndrome ; complications ; diagnosis ; genetics ; Magnetic Resonance Imaging ; Male ; Mediastinal Neoplasms ; complications ; diagnosis ; surgery ; Puberty, Precocious ; diagnosis ; etiology ; Teratoma ; complications ; diagnosis ; surgery ; Testis ; pathology