Cargando…

Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*

A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys)...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Yee Lin, Toh, Luke, Yap, Fabian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Journal of the ASEAN Federation of Endocrine Societies 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784111/ https://www.ncbi.nlm.nih.gov/pubmed/33442180 http://dx.doi.org/10.15605/jafes.035.01.21

Ejemplares similares

Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report
por: Raza, Farhan, et al.
Publicado: (2012)

18. A case of anosmia
por: Zacharias, Hannah, et al.
Publicado: (2018)

Not all anosmia and fever was COVID-19 infection: a case report
por: Koffi, Niamien Patrice, et al.
Publicado: (2020)

Abducens Palsy and Anosmia Associated with COVID-19: A Case Report
por: Francis, Jessica E.
Publicado: (2021)

Mosaic trisomy 13 and constitutional delay in puberty
por: Eltayeb, Sara Yousif Hussein, et al.
Publicado: (2022)

Fungus Ball in Concha Bullosa: A Rare Case with Anosmia
por: Özkırıs, Mahmut, et al.
Publicado: (2013)

Precocious puberty in Turner Syndrome: report of a case and review of the literature
por: Improda, Nicola, et al.
Publicado: (2012)

Anosmia after Caudal Epidural Steroid Injection
por: Kaydu, Ayhan, et al.
Publicado: (2018)

An Extremely Rare Cause of Isolated Congenital Anosmia
por: Saw, Chia, et al.
Publicado: (2022)

Turner syndrome with rapidly progressive puberty: a case report and literature review
por: Yuan, Xuewen, et al.
Publicado: (2020)

Delayed Puberty due to Pituitary Stalk Dysgenesis and Ectopic Neurohypophysis
por: Yoo, Hye Jin, et al.
Publicado: (2006)

Anosmia: A marker of infection by the new corona virus
por: Daher, Valéria Barcelos, et al.
Publicado: (2020)

Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy
por: Shao, Qing, et al.
Publicado: (2023)

Case report of familial COVID-19 cluster associated with High prevalence of anosmia, ageusia, and gastrointestinal symptoms
por: Ho, Bethany E., et al.
Publicado: (2020)

Precocious puberty in an infant with hepatoblastoma: a case report
por: Al-Jumaily, Usama, et al.
Publicado: (2011)

Treatment of congenital adrenal hyperplasia and Klinefelter Syndrome with central precocious puberty: a case report
por: Li, Yan, et al.
Publicado: (2022)

Mayer-Rokitansky-Küster-Hauser syndrome with idiopathic central precocious puberty: a case report
por: Jin, Wei, et al.
Publicado: (2023)

Early onset of puberty in an obese boy with Klinefelter syndrome
por: Cho, Byoung-Wook, et al.
Publicado: (2016)

Functional Olfactory Nerve Regeneration Demonstrated by Thallium-201 Olfacto-Scintigraphy in Patients with Traumatic Anosmia: A Case Report
por: Jiang, Rong-San, et al.
Publicado: (2019)

Anosmia in the course of COVID-19: A case report
por: Pissurno, Neisa Santos Carvalho Alves, et al.
Publicado: (2020)

Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome
por: Schwartz, Naomi S., et al.
Publicado: (2019)

Anosmia and ageusia
por: Tarakji, B., et al.
Publicado: (2020)

Turner syndrome masquerading as normal early puberty
por: Hong, Yong Hee, et al.
Publicado: (2014)

Female genital mutilation of a karyotypic male presenting as a female with delayed puberty
por: Ellaithi, M, et al.
Publicado: (2006)

Anosmia and ageusia as presenting complaints of coronavirus disease (COVID-19) infection
por: Mohindra, Ritin, et al.
Publicado: (2020)

Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5
por: Park, Jisun, et al.
Publicado: (2023)

Pediatric Adrenocortical Oncocytoma presenting as Cushing’s Syndrome and Peripheral Precocious Puberty: A Case Report and Review of Literature*
por: Narayanan, Niya, et al.
Publicado: (2021)

Geographical Variations in Host Predisposition to COVID-19 Related Anosmia, Ageusia, and Neurological Syndromes
por: Kumar, A Aravin, et al.
Publicado: (2021)

A case of anemia caused by combined vitamin B12 and iron deficiency manifesting as short stature and delayed puberty
por: Song, Seung Min, et al.
Publicado: (2010)

Spuriously Elevated Serum IGF-1 in Adult Individuals with Delayed Puberty: A Diagnostic Pitfall
por: Imran, Syed Ali, et al.
Publicado: (2010)

Olfactory bulb magnetic resonance imaging in SARS-CoV-2-induced anosmia in pediatric cases
por: Hatipoglu, Nevin, et al.
Publicado: (2020)

Genes underlying delayed puberty
por: Howard, S.R.
Publicado: (2018)

The Genetic Basis of Delayed Puberty
por: Howard, Sasha R.
Publicado: (2019)

Monitoring of cases of anosmia and COVID-19
por: Sookaromdee, Pathum, et al.
Publicado: (2021)

A Case of Familial Male-Limited Precocious Puberty in a Child With Klinefelter Syndrome
por: Cornacchia, Matthew A, et al.
Publicado: (2018)

Dual effects of a gonadotropin-releasing hormone agonist on an adolescent girl with pelvic congestion syndrome and precocious puberty: a case report
por: Yu, Jwo-Huey, et al.
Publicado: (2020)

Case Report of Central Precocious Puberty in a Female: Role of Environmental Pollutants?
por: Helyaich, Asma, et al.
Publicado: (2020)

Olfaction and anosmia in rhinosinusitis
por: Dalton, Pamela
Publicado: (2004)

Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment
por: Kontbay, Tuğba, et al.
Publicado: (2022)

Hepatoblastoma with Precocious Puberty
por: Yhoshu, Enono, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_se2el36frgj7j3c4fl05rfaunh