Results 71 to 80 of about 2,046,764 (189)

Mixed gonadal dysgenesis with plasty in males [PDF]

, 1989
A 13-year-old Korean boy is reported here as a case of mixed gonadal dysgenesis. The patient presented with perineal hypospadia. He had scrotal testis, epididymis, vas deferens on right side, and abdominal streak gonad, Fallopian tube on left side.
細見, 昌弘, 岡, 聖次, 倉田, 明彦, 高羽, 津, 松宮, 清美, 三宅, 修   +5 more
core  

Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis

, 2011
Patients with XY gonadal dysgenesis are at increased risk of developing gonadal tumors. The etiology of several cases of XY gonadal dysgenesis remains unknown, but X/XY gonadal mosaicism has been hypothesized to play a role.
Nicole Lemieux, Pierre Brochu, Mélanie Beaulieu Bergeron   +2 more
core   +1 more source

Denys‐Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Background Denys‐Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (WT1), leading to a triad of conditions including nephrotic syndrome progressing to end‐stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia.
Waleed AL-Amoudi, Raghad Alhuthil, Abdulrahman Alnwiji, Megren S. Alqarni, Sarah Murad, Afaf Alsagheir, Kalyani Sen   +6 more
wiley   +1 more source

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome.
O. G. Andze, P. Y. Mure, M. A. Sosso, S. Dahoun, A. S. Nwaha Makon, G. Fossi, F. F. Mouafo Tambo, C. Kamadjou   +7 more
core   +1 more source

A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family

Human Mutation, Volume 2026, Issue 1, 2026.
Background and Aims MIRAGE syndrome is an autosomal‐dominant genetic disease primarily caused by a de novo mutation in the gene SAMD9 gene. This study is aimed at investigating the pathogenesis of MIRAGE syndrome through a Chinese case exhibiting intrauterine growth retardation and renal hypoplasia.
Yuxin Huang, Jiahui Fu, Zhongzhi Gan, Fu Xiong, Honglei Zhu, Fang Yang, Priya Gusain   +6 more
wiley   +1 more source

SURGICAL MANAGEMENT OF MIXED GONADAL DYSGENESIS: A CASE REPORT

Urology Research and Practice, 2019
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M.K. Atilla, S. AYDIN, Ö. ODABAŞ, Y. Yılmaz, S.A. GÜRSEL, M. ELBİSTAN   +5 more
doaj   +2 more sources

Laparoscopy versus ultrasonography for the evaluation of Müllerian duct remnants in male patients with disorder of sex differentiation

Egyptian Pediatric Association Gazette
Background The diagnosis of male differences of sex development is a challenging multidisciplinary team task, that requires external genital evaluation, karyotyping, hormonal profiling, radiological work up and frequently diagnostic laparoscopy and ...
Mohamed Sayed Abd El-Monsif, Noha Arafa, Mahmoud Marei Marei, Gamal Eltagy, Ahmed M. K. Wishahy   +4 more
doaj   +1 more source

Development of Free Testosterone Chemiluminescence Detection Kit and Its Clinical Application

Journal of Analytical Methods in Chemistry, Volume 2026, Issue 1, 2026.
Background Free testosterone (FT), the bioactive form comprising 1%–2% of total testosterone, directly enters cells. Unlike total testosterone, FT levels are less affected by sex hormone–binding globulin and better reflect biological activity. Accurate serum FT measurement is crucial for diagnosing conditions like male hypogonadism, PCOS, metabolic ...
Shuang Han, Min Liu, Simin Zhao, Wenjun Yan, Zhixian Lu, Xuan Huang, Tulika Banerjee   +6 more
wiley   +1 more source

A case of mixed gonadal dysgenesis with structural abnormalities of X chromosome (Xp+) [PDF]

, 1985
An abnormal extra band on the short arm of the X chromosome was found in a 7-year-old reared as a female, of mixed gonadal dysgenesis. She had ambiguous external genitalia, scoliosis, short stature, mental retardation and motor paralysis of the limbs ...
伏見, 登, 渡瀬, 秀樹, 大田黒, 和生, 渡辺, 秀輝   +3 more
core  

Certain Aspects of Osteoporosis in Gonadal Dysgenesis

, 2016
Osteoporosis — a metabolic disease of the skeletal system associated with a reduced bone density and deterioration of bone tissue microarchitecture.
L.Yu. Khlunovska, M.I. Kostiv, N.I. Pidvysotska, V.P. Dmitruk, T.N. Kretsu   +4 more
core   +1 more source