Cargando…

Mullerian remnants presenting as a pelvic cyst in a young adult with 45X0/46XY mixed gonadal dysgenesis

A 22-year-old known case of 45XO/46XY mixed gonadal dysgenesis, reared as a male, presented with complaints of suprapubic and left iliac fossa pain for the past 1 month. The patient underwent laparoscopic right orchidectomy (streak) + Mullerian remnant excision + left orchidopexy + first-stage hypos...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ravirajendran, Samson, Palaniyandi, Velmurugan, Arora, Anuj, Ramanan, Venkat, Kumaresan, Natarajan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8052911/ https://www.ncbi.nlm.nih.gov/pubmed/33897170 http://dx.doi.org/10.4103/UA.UA_91_20

Ejemplares similares

A rare case report of 46XY mixed gonadal dysgenesis
por: Arora, Rakesh, et al.
Publicado: (2013)

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
por: dos Santos, Ana Paula, et al.
Publicado: (2013)

PMON311 45,X/46,XY mixed gonadal dysgenesis: a case report from Saudi Arabia
por: Aljasser, Abdullah, et al.
Publicado: (2022)

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)
por: Cobanogullari, H., et al.
Publicado: (2023)

Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report.
por: Kim, S. K., et al.
Publicado: (1993)

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation
por: Çatlı, Gönül, et al.
Publicado: (2015)

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
por: White, Stefan, et al.
Publicado: (2011)

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males
por: Gabriel Ribeiro de Andrade, Juliana, et al.
Publicado: (2014)

Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis
por: Meinel, Jakob A, et al.
Publicado: (2023)

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY
por: Narita, Chisato, et al.
Publicado: (2023)

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
por: Trainavičius, Ignas, et al.
Publicado: (2022)

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report
por: Han, Yang, et al.
Publicado: (2011)

Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report
por: Nishina-Uchida, Noriko, et al.
Publicado: (2015)

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
por: McElreavey, Ken, et al.
Publicado: (2019)

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient
por: Man, Elim, et al.
Publicado: (2013)

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis
por: de Oliveira, Felipe Rodrigues, et al.
Publicado: (2023)

Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report
por: Jha, Santosh Kumar, et al.
Publicado: (2019)

SUN-205 A Case of 46XY Mixed Gonadal Dysgenesis Presenting with Unilateral Gonad and Hemiuterus: Family History Dictates Sex Assignment
por: Al-Gadi, Iman, et al.
Publicado: (2019)

A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis
por: Wang, Xiao-Bo, et al.
Publicado: (2019)

Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis
por: Thewjitcharoen, Yotsapon, et al.
Publicado: (2019)

Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis
por: Zong, Xuan, et al.
Publicado: (2019)

Response to growth hormone therapy and gonadal pathology in 45,X/46,XY females
por: Titmuss, Angela, et al.
Publicado: (2015)

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar
por: Soheilipour, Fahimeh, et al.
Publicado: (2014)

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty
por: Wagner‐Mahler, Kathy, et al.
Publicado: (2019)

A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene
por: Xu, Ke, et al.
Publicado: (2020)

MON-075 Autonomy and Self-Determination in a Patient with XY Gonadal Dysgenesis
por: Moryan-Blanchard, Kristen, et al.
Publicado: (2020)

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads
por: Nomura, Risa, et al.
Publicado: (2015)

Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report
por: Ashraf Ganjooei, Tahereh, et al.
Publicado: (2022)

Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism
por: Ljubicic, Marie Lindhardt, et al.
Publicado: (2021)

Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review
por: Lin, Rui, et al.
Publicado: (2021)

Pure gonadal dysgenesis (46 XX type) with a familial pattern
por: Kohmanaee, Shahin, et al.
Publicado: (2015)

Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review
por: Zhang, Xinyue, et al.
Publicado: (2022)

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child
por: Pan, Lili, et al.
Publicado: (2022)

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
por: Alhamoudi, Kheloud M., et al.
Publicado: (2022)

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report
por: Zhytnik, Lidiia, et al.
Publicado: (2022)

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review
por: Zhang, Wei, et al.
Publicado: (2022)

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis
por: Rjiba, Khouloud, et al.
Publicado: (2023)

Anti-Ma2 encephalitis in a phenotypic female with XY gonadal dysgenesis: A case report
por: Alsuwaidi, Shaikha, et al.
Publicado: (2023)

Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene
por: Jung, Jae Yeop, et al.
Publicado: (2015)

A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis
por: Fan, Wufang, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_7ghklh0ikrm1niditgo3agj15t