Results 91 to 100 of about 110,162 (292)

Pure gonadal dysgenesis (46 XX type) with a familial pattern

Advanced Biomedical Research, 2015
46, XX gonadal dysgenesis without the phenotype of Turner′s syndrome is described as "pure". Although, previous investigations obtained that commonly gonadal dysgenesis did not cause breast development as a result of low levels of circulating estradiol ...
S. Kohmanaee, Setila Dalili, A. H. Rad
semanticscholar   +1 more source

Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2017
La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.
Diego Armando Guerrero Gómez, Yessica Agudelo Zapata, Hector Sandoval Alzate, Luis Maldonado Acosta, Juan Manuel Arteaga Díaz, Roberto Franco Vega   +5 more
doaj   +1 more source

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development [PDF]

, 2016
Cell lineages of the early human gonad commit to one of the two mutually antagonistic organogenetic fates, the testis or the ovary. Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex ...
Achermann, JC, Balasubramanyam, A, Barseghyan, H, Bashamboo, A, Bignon-Topalovic, J, Bingham, N, Buonocore, F, Burrage, L, Calvel, P, de Silva, K, Dhar, S, Donohoue, PA, Dumargne, MC, Eozenou, C, Jain, M, Lagos, CF, Lee, B, Lin, L, McElreavey, K, Members of UDN, ., Mulukutla, SN, Poulat, F, Rojo, S, Rosenfeld, JA, Seneviratne, SN, Suntharalingham, JP, Vilain, E   +26 more
core   +2 more sources

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

International Journal of Endocrinology, 2014
Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods.
Juliana Gabriel Ribeiro de Andrade, A. P. Marques-de-Faria, H. C. Fabbri, M. de Mello, G. Guerra‐Júnior, A. Maciel-Guerra   +5 more
semanticscholar   +1 more source

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva   +5 more
doaj   +1 more source

45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction.

Canadian Urological Association journal = Journal de l'Association des urologues du Canada, 2014
Infertility is common among couples, about one third of cases are the result of solely male factors, and rarely abnormalities of genetic karyotypes are the root cause.
R. Flannigan, V. Chow, Sai Ma, A. Yuzpe
semanticscholar   +1 more source

Case Management of Pure Gonadal Dysgenesis 46, XY (Sindrom Swyer) [PDF]

, 2016
Disorders of sex development (DSD) are medical conditions in which the development of chromosomal, gonadal or anatomic sex varies from normal and may be incongruent with each other.
Harzif, A. K. (Achmad), Hestiantoro, A. (Andon), Maidarti, M. (Mila), Natadisastra, M. (Muharam), Pratama, G. (Gita), Sumapradja, K. (Kanadi), Wiweko, B. (Budi)   +6 more
core   +2 more sources

Contemporary issues in primary amenorrhea: An experience from a Tertiary Care Center

Indian Journal of Endocrinology and Metabolism, 2012
Introduction: Amenorrhea is classified as primary if menstrual bleeding has never occurred in the absence of hormonal treatment. The clinical significance of a lack of regular menstrual cycles extends beyond reproductive concerns.
Ashok Krishna Bhuyan, Dipti Sarma, Uma Kaimal Saikia   +2 more
doaj   +1 more source

Multidisciplinary Management of Disorders of Sex Development in Indonesia, a Prototype in Developing Country [PDF]

, 2017
Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper ...
Faradz, S. M. (Sultana), Juniarto, A. Z. (Achmad), Listyasari, N. A. (Nurin), Santosa, A. (Ardy)   +3 more
core   +1 more source

Gonadal dysgenesis and ulcerative colitis. A case report with clinical, cytogenetic, and post-mortem studies. [PDF]

, 1966
E Williams, Edgard Eduard Engel, P.D. Taft, AnneP. Forbes   +3 more
openalex   +1 more source