Cargando…

A rare case report of 46XY mixed gonadal dysgenesis

A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner's stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH)...

Descripción completa

Detalles Bibliográficos
Autores principales:	Arora, Rakesh, Datta, Saumik, Thukral, Anubhav, Chakraborty, Partha, Ghosh, Sujoy, Mukhopadhyay, Satinath, Chowdhury, Subhankar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2013
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830329/ https://www.ncbi.nlm.nih.gov/pubmed/24251183 http://dx.doi.org/10.4103/2230-8210.119601

Ejemplares similares

Precocious puberty: A blessing in disguise!
por: Goswami, Soumik, et al.
Publicado: (2013)

Evolving adrenal insufficiency
por: Roy, Ajitesh, et al.
Publicado: (2012)

The “Double A” phenotype: Portending Allgrove's syndrome and averting adrenal crisis
por: Goswami, Soumik, et al.
Publicado: (2012)

Refractory rickets due to Fanconi's Syndrome secondary to Wilson's disease
por: Selvan, Chitra, et al.
Publicado: (2012)

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)

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)

Effects of thyroid status on glycated hemoglobin
por: Bhattacharjee, Rana, et al.
Publicado: (2017)

Comment on: Jeffery et al. Age Before Stage: Insulin Resistance Rises Before the Onset of Puberty: A 9-Year Longitudinal Study (EarlyBird 26). Diabetes Care 2012;35:536–541
por: Thukral, Anubhav, et al.
Publicado: (2012)

Thyroid associated orbitopathy with ocular myasthenia in primary hypothyroidism: Keep those eyes open
por: Selvan, Chitra, et al.
Publicado: (2013)

Mullerian remnants presenting as a pelvic cyst in a young adult with 45X0/46XY mixed gonadal dysgenesis
por: Ravirajendran, Samson, et al.
Publicado: (2021)

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)

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)

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)

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)

Comment on: Besser et al. Lessons From the Mixed-Meal Tolerance Test: Use of 90-Minute and Fasting C-Peptide in Pediatric Diabetes. Diabetes Care 2013;36:195–201
por: Chaudhary, Sandeep, et al.
Publicado: (2013)

Pancreatic carcinoma in fibrocalcific pancreatic diabetes: An eastern India perspective
por: Chakraborty, Partha Pratim, et al.
Publicado: (2012)

Diabetic neuropathic cachexia in a young female
por: Datta, Saumik, et al.
Publicado: (2013)

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

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)

Hypophosphatemic rickets: A case of recurrent pathological fractures
por: Baidya, Arjun, et al.
Publicado: (2012)

Profile of vitamin D in a cohort of physicians and diabetologists in Kolkata
por: Baidya, Arjun, et al.
Publicado: (2012)

De morseir syndrome presenting as ambiguous genitalia
por: Thukral, Anubhav, et al.
Publicado: (2012)

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)

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)

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)

Medical Management of Thyroid Ectopia: Report of Three Cases
por: Dutta, Deep, et al.
Publicado: (2013)

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)

Adrenal myelolipoma with keratoconus: A novel clinical association
por: Dutta, Deep, et al.
Publicado: (2012)

Growth hormone deficiency, secondary hypothyroidism, and empty sella following treatment of childhood macroprolactinoma
por: Selvan, Chitra, et al.
Publicado: (2013)

Panhypopituitarism with empty sella a sequel of pituitary hyperplasia due to chronic primary hypothyroidism
por: Dutta, Deep, et al.
Publicado: (2012)

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)

Idiopathic hypoparathyroidism and systemic sclerosis: An association likely missed
por: Dutta, Deep, et al.
Publicado: (2012)

Primary Hyperparathyroidism Masquerading as Rickets: Diagnostic Challenge and Treatment Outcomes
por: Dutta, Deep, et al.
Publicado: (2013)

Needle aspirate PTH in diagnosis of primary hyperparathyroidism due to intrathyroidal parathyroid cyst
por: Dutta, Deep, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_7suevtdks9ctj7ir0vhorkct56