Results 51 to 60 of about 50,074,769 (205)
Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid +4 more
wiley +1 more source
Successful twin pregnancy in a 46,XY pure gonadal dysgenesis
Journal of Obstetrics and Gynaecology, 2013 The karyotypes of the normal human males and females are 46,XY and XX, respectively. Women with the 46,XY genotype represent a very heterogeneous group.
De Santis, Marco +3 more
openaire +2 more sources
MIXED GONADAL DYSGENESIS WITH 45,X/46,X,IDIC(Y)/46,XY,IDIC(Y) KARYOTYPE
, 2009 Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype: To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders.
ÇAĞLAYAN, AHMET OKAY +5 more
core +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 +6 more
doaj +1 more source
Children, 2023 Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. It is associated with male gonadal dysgenesis (
Qing Shao +5 more
doaj +1 more source
Modern competency‐based teaching of human sexual development
Anatomical Sciences Education, Volume 19, Issue 7, Page 1086-1096, July 2026.Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler +2 more
wiley +1 more source
Endometrial cancer in a woman with 46,XY pure gonadal dysgenesis
Journal of Obstetrics and Gynaecology, 2014 Swyer syndrome is a pure gonadal dysgenesis (GD), in which an individual with a 46,XY genotype is born with female genital anatomy.
D, McGregor +5 more
openaire +2 more sources
Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis.
, 2003 We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations.The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically ...
I. D. Monte +10 more
core +1 more source
Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, 2021 NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility.
Antonella Gambadauro +5 more
doaj +1 more source
46,XY gonadal dysgenesis: is oncogenesis related to H-Y phenotype or breast development?
, 1985 Among women with 46,XY gonadal dysgenesis, there is a high incidence of gonadal tumors. Because of evidence of a connection between occurrence of those tumors, H-Y phenotype, and breast development, we surveyed 55 cases of 46,XY gonadal dysgenesis and 12
Wachtel, S S +4 more
core +1 more source