Results 31 to 40 of about 12,853 (226)

How often are clinicians performing genital exams in children with disorders of sex development? [PDF]

, 2017
Background: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic.
Eugster, Erica A., Tica, Stefani S.
core   +1 more source

A rare cause for primary amenorrhea: Sporadic perrault syndrome

Indian Journal of Endocrinology and Metabolism, 2012
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault ...
K H Noorul Ameen, Rakesh Pinninti
doaj   +1 more source

A rare cause for primary amenorrhoea

Journal of Human Reproductive Sciences, 2012
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault′s
Kaderthambi Hajamohideen Noorul Ameen, Rakesh Pinninti   +1 more
doaj   +1 more source

Dysgerminoma in three patients with Swyer syndrome

World Journal of Surgical Oncology, 2007
Background Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis.
Karimi Zarchi Mojgan, Behtash Nadereh
doaj   +1 more source

Laparoscopic approach for gonadectomy in pediatric patients with intersex disorders [PDF]

, 2016
The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family.
Calvo, Andres, Caprio, Maria Grazia, ESCOLINO, MARIA, ESPOSITO, CIRO, Roberti, Agnese, SETTIMI, ALESSANDRO   +5 more
core   +1 more source

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. [PDF]

, 2018
© The Author(s) 2018. Published by Oxford University Press. All rights reserved. SOX8 is an HMG-box transcription factor closely related to SRY and SOX9.
Ahmed, Aleksandar Rajkovic, Andrew J Duncan, Anu Bashamboo, Barrionuevo, Bashamboo, Bashamboo, Bashamboo, Ben Khelifa, Bhagavath, Caburet, Capucine Hyon, Caroline de Malleray Pichard, Caroline Eozenou, Caroline Schluth-Bolard, Celia Ravel, Chaboissier, Christine Louis-Sylvestre, Cooper, Eduardo H Charreau, Erickson, Etienne Patin, Ewa Rajpert-De Meyts, Gonen, Guth, Harteveld, Hassan Rouba, Huang, Hughes, Inas Mazen, Jakubiczka, Jamsai, Jean-Pierre Siffroi, Joelle Bignon-Topalovic, John C Achermann, Ken McElreavey, Kristian Almstrup, Lavery, Lee, Leila Fusee, Liliana Dain, Lin, Liu, Lourenço, Luca Persani, Marie-Charlotte Dumargne, Marie-France Portnoi, Matzuk, Miguel Reyes-Mugica, Neirijnck, Nelson, Ng, Nicol, O'Bryan, Origa, Pierre Validire, Péterfy, Raffaella Rossetti, Raja Brauner, Ralf Jauch, Ray, Salmon, Sandra Chantot-Bastaraud, Sandra Rojo, Schepers, Sekido, Selma F Witchel, Skakkebaek, Smyk, Sophie Christin-Maitre, Stolt, Stuart MacGowan, Suntharalingham, Sutton, Svetlana A Yatsenko, Violeta A Chiauzzi, W H Irwin McLean, Wang, Yatsenko, Yogesh Srivastava   +79 more
core   +12 more sources

Minor Abnormalities of Testis Development in Mice Lacking the Gene Encoding the MAPK Signalling Component, MAP3K1 [PDF]

, 2011
In mammals, the Y chromosome is a dominant male determinant, causing the bipotential gonad to develop as a testis. Recently, cases of familial and spontaneous 46,XY disorders of sex development (DSD) have been attributed to mutations in the human gene ...
A Hubner, A Minden, A Pearlman, Andy Greenfield, Asha Dopplapudi, B Bonnesen, B Moniot, BD Cuevas, C Le Caignec, C Widmann, Christoph Winkler, D Bogani, D Jawaheer, D Wilhelm, D Wilhelm, Debora Bogani, E Wright, EA Craig, EA Espiner, GJ Bouma, H Chi, H Ostrer, H Ostrer, Harry Ostrer, Hilda Tateossian, J Brennan, J Karl, J Schmahl, J Whiting, JC Achermann, JS Colvin, JW Foster, K Sarafoglou, L Smith, L Zhang, M Aouadi, M Takekawa, Michael Cheeseman, MR Junttila, N Warr, Nick Warr, NL Johnson, P Berta, P Gerwins, P Siggers, PA Lee, Pam Siggers, R Hiramatsu, Rachel Brixey, S Bagheri-Fam, S Barbaux, S Cox, S Grimmond, S Nef, Sara Wells, T Wagner, T Yujiri, T Yujiri, TK Schlesinger, Y Kim, Y Xia, Ying Xia   +61 more
core   +11 more sources

FENOTIP PADA KELAINAN GONADAL DISGENESIS 46, XY

Jurnal Kedokteran Diponegoro, 2016
Latar belakang: Fenotip pada pasien Gonadal Dysgenesis 46, XY bervariasi dari wanita normal sampai ambigus genitalia hingga pria dengan undervirilisasi.
Prima Chaerunisa Ananda, Sultana MH Faradz, Mahayu Dewi Ariani   +2 more
doaj   +1 more source

Genomic analysis of P elements in natural populations of Drosophila melanogaster [PDF]

PeerJ, 2017
The Drosophila melanogaster P transposable element provides one of the best cases of horizontal transfer of a mobile DNA sequence in eukaryotes. Invasion of natural populations by the P element has led to a syndrome of phenotypes known as P-M hybrid ...
Casey M. Bergman, Shunhua Han, Michael G. Nelson, Vladyslav Bondarenko, Iryna Kozeretska   +4 more
doaj   +2 more sources

Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys [PDF]

, 2014
In early fetal development, the testis secretes – independent of pituitary gonadotropins – androgens and anti-Müllerian hormone (AMH) that are essential for male sex differentiation. In the second half of fetal life, the hypothalamic–pituitary axis gains
Ambao, Veronica Ana, Ballerini, Maria Gabriela, Bedecarras, Patricia Gladys, Bergadá, Ignacio, Braslavsky, Debora Giselle, Campo, Stella Maris, Gottlieb, Silvia Elisa, Grinspon, Romina, Loreti, Rosana Nazareth, Rey, Rodolfo Alberto, Ropelato, Maria Gabriela, Schteingart, Helena Fedora, Valeri, Clara   +12 more
core   +2 more sources