Results 71 to 80 of about 2,046,767 (198)

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

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

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

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

A case of mixed gonadal dysgensis: A diagnostic challenge

Journal of Human Reproductive Sciences, 2019
A 2-year-old child reared as a girl child was brought by parents with ambiguous genitalia noticed since birth. There was no history of failure to thrive or salt-losing crisis.
Uma Kaimal Saikia, Dipti Sarma, Darvin Vamadevan Das, J K Goswami, Kaushik, Chandan Saikia, Abilash Nair   +6 more
doaj   +1 more source

Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis

, 2011
Mixed gonadal dysgenesis (MGD) is a form of sex chromosome disorder of sex development with large phenotypic variability. Patients with MGD typically have asymmetric and ambiguous genitalia with a combination of Müllerian and Wolffian duct derivatives ...
Rudy Alvarez, Martin N. Kaefer, Alvarez, Rudy, Kaefer, Martin N., Todd D. Nebesio, Erica A. Eugster, Eugster, Erica A., Nebesio, Todd D., Cabrera, Susanne M., Susanne M. Cabrera   +9 more
core   +1 more source

Female phenotype associated with XY karyotype: report of a case with gonadal dysgenesis. [PDF]

, 1969
The 3 conditions that should be considered in the differential diagnosis of individual ls of predominantly female phenotype who prove to be chromatin negative and 10 have an XY karyotype a re male pseudohermaphrodilism.
Pepler, WJ, Smith, M
core   +1 more source