Results 81 to 90 of about 169,144,440 (149)

46,XX Disorders of Sex Development: A Case with p.Arg92Trp Variant in NR5A1

Ovotesticular (OT) disorders of sex development (DSDs) are marked by the simultaneous presence of ovarian and testicular tissues within the gonads. The appearance of external genitalia does not necessarily correlate with gonadal histology.
BİDECİ, AYSUN, AKIN, AGAH, KAYHAN, GÜLSÜM, ÇAMURDAN, MAHMUT ORHUN, OKTAY, MEHMET ALİ, Kocaman, Gizem Esme, DÖĞER, ESRA   +6 more
core   +1 more source

Childhood Sex-Typed Behavior and Gender Change in Individuals with 46,XY and 46,XX Disorders of Sex Development: An Iranian Multicenter Study

, 2018
Disorders of sex development (DSD) are congenital conditions in which the typical genetic and hormonal profiles are affected and thereby the usual process of sexual differentiation. Most of these studies, however, have been conducted in Western countries.
Afkhamizadeh, Mozhgan, Dastmalchi, Samira, Khorashad, Behzad S., Abbaszadegan, Mohammad Reza, Roshan, Ghasem M., Talaei, Ali, Ghaemi, Nosrat, Reid, Alistair G., Khazai, Behnaz, Aghili, Zahra, Hiradfar, Mehran, van de Grift, Tim C., Moghadam, Maliheh Dadgar, Aarabi, Azadeh   +13 more
core   +1 more source

Identification of a novel variant in MYRF gene in a patient with 46, XX disorders of sex development

Gynecological Endocrinology
Objective To expand the clinical phenotype associated with MYRF mutations in disorders of sex development (DSDs).Methods We present a case of a 17-year-old patient with a female phenotype who presented with primary amenorrhea.Results The patient’s ...
Leilei Ding, Qinjie Tian
doaj   +1 more source

Spectrum and clinical profile of disorders of sex development: A 10 year experience at a tertiary care center. [PDF]

Pak J Med Sci
Aslam N, Aftab S, Naseer Khan B, Noor-E-Hira.   +3 more
europepmc   +1 more source

Three-Year Experience of Cytogenetic and Molecular Genetic Evaluation in Patients With Disorders of Sex Development at a Tertiary Care Centre in Eastern India. [PDF]

Cureus
Sahoo S, Tripathy BB, Tripathy PR, Narayan RK, Kumar KP, Gaikwad MR.   +5 more
europepmc   +1 more source

Prenatal sex discordance revealing SRY-positive 46,XX testicular disorder of sex development. [PDF]

Urol Case Rep
Tobia-Gonzalez S, Barganski N, Miller M, Renck A, Smith-Harrison L.   +4 more
europepmc   +1 more source

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the <i>NR5A1</i> gene: a case report. [PDF]

Front Pediatr
Martinková J, Mihulová M, Balaščaková M, Trachta J, Křepelová A.   +4 more
europepmc   +1 more source

Mixed Ovarian Dissecting Gonadoblastoma Coexisting with Dysgerminoma, Trophoblastic Tumor, and Leydig Cell Tumor in a Phenotypically Normal 46, XX Female: A Case Report. [PDF]

Int J Womens Health
Xu W, Chu K, Huang Y, Lan Y, Zhou J.
europepmc   +1 more source

<i>SRY</i>-positive 46,XX testicular disorder of sex development in adult monozygotic twins. [PDF]

JCEM Case Rep
Pantović V, Tančić-Gajić M, Miletić M, Bojović T, Vujović S.   +4 more
europepmc   +1 more source