Results 41 to 50 of about 1,849 (152)

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

MIXED GONADAL DYSGENESIS: A RAPORT OF TWO CASES [PDF]

, 1979
Two cases of mixed gonadal dysgenesis were herein reported. Case one was a 16-year-old, legally male patient and the other was a 11-year-old, also legally male patient. Sex chromosome analysis revealed mosaicism of 45XO/46XY in both cases.
斎藤, 泰, 近藤, 厚, 朝長, 優, 居原, 健, 石丸, 忠彦, 金武, 洋, 津田, 暢夫, 中野, 信吾   +7 more
core  

Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation

, 2009
Objective. We present our experience in diagnosing, gender assignment, and surgical management of sexual ambiguity in 46,XY mixed gonadal dysgenesis. Material and methods.
Diana Mačianskytė, Rasa Verkauskienė, Francis Jaubert, Gilvydas Verkauskas, Dainius Jančiauskas, Romualdas Preikša   +5 more
core   +2 more sources

Semen Cryopreservation in Testicular Cancer: Before or After Orchidectomy?

Andrology, Volume 14, Issue 5, Page 1272-1281, July 2026.
ABSTRACT Background Fertility preservation in patients with testicular cancer remains a clinical priority, yet the optimal timing for sperm cryopreservation—before or after orchidectomy—remains a matter of debate. Objectives The aim of this study was to determine the optimal timing for semen cryopreservation and the best‐quality sample for ART.
Alessandra Buonacquisto, Carlotta Pozza, Gaia Cicolani, Anna Chiara Conflitti, Luisa Caponecchia, Serena Bianchini, Enrico Delli Paoli, Marta Tenuta, Daniele Gianfrilli, Andrea M. Isidori, Francesco Lombardo, Francesco Pallotti, Donatella Paoli   +12 more
wiley   +1 more source

Mixed gonadal dysgenesis with seminoma: a case report [PDF]

, 1987
A case of mixed gonadal dysgenesis with anaplastic seminoma is reported. A 43-year-old, female, who was brought up as a female, was admitted to our hospital for swelling of left inguinal region.
平尾, 佳彦, 橋本, 雅善, 小原, 壮一, 喜多, 悦子, 守屋, 昭, 岡島, 英五郎, 二見, 孝   +6 more
core  

Clinical Features of Malignant Ovarian Germ Cell Tumors According to Demographic and Pathologic Characteristics

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Malignant ovarian germ cell tumors (MOGCTs) are aggressive cancers affecting mainly young women, in whom fertility preservation is important. Diagnosis is often delayed because early symptoms are non‐specific, leading to advanced disease or emergency surgery that may limit optimal staging and fertility‐sparing treatment. As
Jila Agah, Elham Navipour, Setareh Akhavan, Somaye Norouzi   +3 more
wiley   +1 more source

Histological features in partial and mixed gonadal dysgenesis biopsy and gonadectomy material: review of 43 cases

, 2017
Diagnosis and classification of Gonadal Dysgenesis were classically established by histological evaluation; in testicular dysgenesis partial and mixed gonadal dysgenesis are distinguished on the basis of karyotype with 46,XY or mosaicism of 45X,46XY and ...
Hiort, Olaf, Mello, Maricilda Palandi de, Fabbri, H. C., Marques de Faria, A. P., Guerra Junior, Gil, Werner, R., Maciel-Guerra, A.T., Andrade, J. G. R., Holl-Ulrich, K.   +8 more
core   +1 more source

Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2016
Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.
N. S. Kamakeri
doaj  

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center

Journal of the Formosan Medical Association, 2019
Background/Purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. Patients and Methods: We enrolled 19 patients from January 1981 to September 2016.
Yen-Chun Huang, Cheng-Ting Lee, Mu-Zon Wu, Shih-Yao Liu, Yi-Ching Tung, Hong-Nerng Ho, Wen-Yu Tsai   +6 more
doaj   +1 more source

Treosulfan–fludarabine conditioning in infants with severe combined immunodeficiencies: Extended study of the UK paediatric treosulfan study

British Journal of Haematology, Volume 208, Issue 5, Page 1713-1723, May 2026.
Summary Allogeneic haematopoietic stem cell transplantation (HSCT) is a curative therapy for severe combined immunodeficiency (SCID). Conditioning improves donor engraftment and freedom from immunoglobulin replacement (IgR) but increases the risks of acute and late toxicity. Treosulfan, a reduced toxicity alkylating agent, has emerged as an alternative
Su Han Lum, Sinéad Greener, Irum Latif Memon, Persis Amrolia, Zohreh Nademi, Robert Chiesa, Juliana Silva, Helen Young, Stephen Owens, Eleri Williams, Khuen Foong Ng, Terry Flood, Andrew R Gennery, Sophie Hambleton, Kanchan Rao, Mary Slatter   +15 more
wiley   +1 more source