Results 91 to 100 of about 2,351 (123)

Two adult 46,XY sisters with female-like phenotype due to a novel homozygous <i>LHCGR</i> splice-site variant. [PDF]

JCEM Case Rep
Meirelles MG, Scalco RC, Marques JM, Lima Junior J, Bueno CF, Mendonca BB.   +5 more
europepmc   +1 more source

The intersection of disorders of sex development and cardiovascular diseases. [PDF]

Biol Sex Differ
Hashmi S, Aherrahrou R.
europepmc   +1 more source

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

J Clin Endocrinol Metab
Sepich M, Bertelloni S, Tyutyusheva N, Lucas-Herald A, Mazen I, Cools M, Van Paemel R, Poyrazoğlu Ş, Hiort O, Döhnert U, Neumann U, Phan-Hug F, Atapattu N, Seneviratne S, Markosyan R, Rey R, Suco S, Baronio F, Lichiardopol C, Verkauskas G, Stancampiano M, Russo G, Konrad D, Lenherr-Taube N, Hannema S, Gazdagh G, Peroni D, Ahmed SF.   +27 more
europepmc   +1 more source

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Sex Dev
Lima-Santos J, Nascimento-Vidoti CG, Correia-Costa GR, Campos NLV, Guaragna MS, de Oliveira FM, Barros BA, Miranda ML, Antolini Tavares A, Guerra-Junior G, Maciel-Guerra AT, Fabbri-Scallet H, Vieira TP.   +12 more
europepmc   +1 more source

Patient and Parent Perceptions of Disorders of Sex Development Terminology: A Pilot Study. [PDF]

Arch Sex Behav
Sharp S, Williams L, Yashar B, Mohnach L, Fitzgerald JT, Ernst MM, Schafer-Kalkhoff T, Gomez-Lobo V, Sandberg DE.   +8 more
europepmc   +1 more source

A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China. [PDF]

Biol Sex Differ
Lei X, Zhou X, Cheng Z, Zhao S, Gui C, Ma Y, Shi M, Wei X, Xie B, Fan X, Chen S, Tao Q, Su Y, Yuan D, Gui B.   +14 more
europepmc   +1 more source

Common pathogenic mechanisms in the hippocampus across neurodegenerative dementias: Alzheimer's disease, Down syndrome, and Parkinson's disease. [PDF]

NPJ Dement
Crans RAJ, Fructuoso M, Bascón-Cardozo K, Recaioglu H, Sotelo-Fonseca J, Vermeiren Y, Strydom A, Van Dam D, De Deyn PP, Rodríguez-Martín B, Potier MC, Dierssen M.   +11 more
europepmc   +1 more source

Two Cases of <i>MYRF</i>-Related Differences of Sex Development: A Wide Phenotypic Spectrum. [PDF]

JCEM Case Rep
Dayno A, Chatty P, Muneer S, Montano C, Kilberg M, Vogiatzi M.   +5 more
europepmc   +1 more source

Optimizing Care for Undescended Testicles in Children and Adolescents-Diagnosis, Management, and Outcomes: A Narrative Review of Current Evidence. [PDF]

Children (Basel)
Bašković M, Buzuk J, Dujić B, Jurić D, Jurković K, Pehar K, Vuković S, Ježek D, Habek D, Milas I.   +9 more
europepmc   +1 more source