Results 11 to 20 of about 43,260 (208)

Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis [PDF]

The Turkish Journal of Pediatrics, 2016
46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years.
Melikşah Keskin, Şenay Savaş-Erdeve, Erdal Kurnaz, Semra Çetinkaya, Ayşe Karaman, Sema Apaydın, Zehra Aycan   +6 more
doaj   +2 more sources

Mixed gonadal dysgenesis in 45,X Turner syndrome with gene [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male.
Jae Yeop Jung, Sohyoung Yang, Eun-Hwan Jeong, Ho-Chang Lee, Yong-Moon Lee, Heon-Seok Han, Kyung Hee Yi   +6 more
doaj   +2 more sources

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

Archives of Endocrinology and Metabolism
SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis.
Sarah Crestian Cunha, Juliana Gabriel Ribeiro de Andrade, Camila Matsunaga de Angelis, Athanase Billis, Joaquim Murray Bustorff-Silva, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Gil Guerra-Júnior   +7 more
doaj   +2 more sources

Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads [PDF]

, 2006
Purpose: The purpose of the study was to define the histological origin of gonadoblastomas, allowing the identification of high-risk patients. Experimental Design: Sixty paraffin-embedded gonadectomy or gonadal biopsy samples of 43 patients with ...
Kula, Krzysztof, Stoop, Hans, Drop, Stenvert L. S, Faradz, Sultana M.H., Kersemaekers, Anne-Marie F., Cools, Martine, Looijenga, Leendert H. J, Wolffenbuttel, Katja P, Slowikowska-Hilczer, Jolanta, Bourguignon, Jean-Pierre, Oosterhuis, J. Wolter   +10 more
core   +2 more sources

gonadal dysgenesis

, 2021
Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been ...
Nathalie Escande‐Beillard, Escande-Beillard, Nathalie, Shalini S. Nayak, Katta Mohan Girisha, Serpil Eraslan, Hülya Kayserili, Ledig, Susanne, Girisha, Katta Mohan, Susanne Ledig, Azakli, Hulya, Anju Shukla, Umut Altunoglu, Eraslan, Serpil, Shukla, Anju, Esra Börklü, Borklu, Esra, Kennerknecht, Ingo, Ingo Kennerknecht, Nayak, Shalini S., Altunoglu, Umut, Hülya Azaklı, Kayserili, Hulya   +21 more
core   +1 more source

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

Molecular Genetics & Genomic Medicine, 2020
Background Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen‐activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD.
Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni   +4 more
doaj   +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

Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis

, 2023
Introduction: 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable ...
Gorodna, Olexandra, Sirokha, Dmytro, Samson, Oksana, Livshits, Ludmila, Kalynovskyi, Vitalii, Kwiatkowska, Krystyna, Kusz-Zamelczyk, Kamila, Jaruzelska, Jadwiga, Zelinska, Nataliya, Nef, Serge, Rayevsky, Alexey   +10 more
core   +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

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

International Journal of Endocrinology, 2012
A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed.
Michela Barbaro, Jackie Cook, Kristina Lagerstedt-Robinson, Anna Wedell   +3 more
doaj   +1 more source