Cargando…

Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance...

Descripción completa

Detalles Bibliográficos
Autores principales:	Flint, Jennifer L., Jacobson, Jill D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583052/ https://www.ncbi.nlm.nih.gov/pubmed/23476826 http://dx.doi.org/10.1155/2013/393584

Ejemplares similares

Adrenal hypoplasia congenita in identical twins
por: Amer, Alia M. Al, et al.
Publicado: (2019)

Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia
por: Verma, Sourabh, et al.
Publicado: (2019)

Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism
por: Loureiro, Marta, et al.
Publicado: (2015)

Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita
por: Serbis, Anastasios, et al.
Publicado: (2018)

Comment on: Adrenal hypoplasia congenita in identical twins
por: Amer, Alia M. Al, et al.
Publicado: (2020)

X-linked congenital adrenal hypoplasia: a case presentation
por: Ouyang, Hong, et al.
Publicado: (2021)

Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia
por: Al-Bahri, S., et al.
Publicado: (2014)

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
por: Shaikh, M G, et al.
Publicado: (2008)

Classic congenital adrenal hyperplasia: A delayed presentation
por: Aziz Siddiqui, Saima, et al.
Publicado: (2013)

FRI252 Novel Mutation Presenting With Hypoaldosteronism In X-Linked Adrenal Hypoplasia Congenita
por: Ismail, Esraa, et al.
Publicado: (2023)

Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
por: Choi, Han Saem, et al.
Publicado: (2021)

Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
por: Cuhaci, Neslihan, et al.
Publicado: (2015)

A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis
por: Khodadad, Ahmad, et al.
Publicado: (2011)

Testicular adrenal rest tumours in an adult patient with congenital adrenal hyperplasia
por: Forster, Danielle Andrea, et al.
Publicado: (2022)

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia
por: Jin, Hye Young, et al.
Publicado: (2011)

A Case of Congenital Lipoid Adrenal Hyperplasia
por: Hashemipour, Mahin, et al.
Publicado: (2012)

Congenital adrenal hyperplasia
por: Dessinioti, Cleo, et al.
Publicado: (2009)

Congenital Adrenal Hyperplasia
por: Speiser, Phyllis W.
Publicado: (2015)

MON-076 Adrenal Hypoplasia Congenita - Is It Possible to Make This Diagnose in Previous “Idiopathic” Adrenal Insufficient Patients? Series of Cases
por: de Paula, Leila Pedroso, et al.
Publicado: (2020)

Sonographic Appearance of Testicular Adrenal Rest Tumour in a Patient with Congenital Adrenal Hyperplasia
por: Deshpande, Saurabh S., et al.
Publicado: (2017)

Individualizing Management of Infertility in Classic Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors
por: Jha, Smita, et al.
Publicado: (2019)

Bilateral testicular adrenal rest tumors in a patient with nonclassical congenital adrenal hyperplasia
por: Roberts, Erica C, et al.
Publicado: (2021)

Congenital adrenal hyperplasia presented with bilateral testicular tumor: A case report
por: Akbarzadeh Pasha, Abazar, et al.
Publicado: (2021)

Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome
por: Koh, Ji Won, et al.
Publicado: (2013)

Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia
por: Claahsen-van der Grinten, H. L., et al.
Publicado: (2009)

Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia?
por: Ağladıoğlu, Sebahat Yılmaz, et al.
Publicado: (2011)

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome
por: Mishra, Vineet V., et al.
Publicado: (2015)

Graves’ Disease Presenting as Adrenal Crisis in a Patient With Congenital Adrenal Hyperplasia
por: Ibraheem Hamad, Mohammad Khair Ahmad, et al.
Publicado: (2021)

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia
por: Lousada, Lia Mesquita, et al.
Publicado: (2021)

Testicular Adrenal Rest Tumor in 11-Beta-Hydroxylase Deficiency Driven Congenital Adrenal Hyperplasia
por: Kaynar, Mehmet, et al.
Publicado: (2014)

Ovarian adrenal rest tumor in congenital adrenal hyperplasia: Is medical treatment the first line option?
por: Koren, Ronit, et al.
Publicado: (2021)

Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature
por: Jacobson, Aaron, et al.
Publicado: (2021)

Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia
por: Carsote, Mara, et al.
Publicado: (2023)

Morphologic and Molecular Characterization of Adrenals and Adrenal Rest Affected by Congenital Adrenal Hyperplasia
por: Kolli, Vipula, et al.
Publicado: (2021)

Nonclassic Congenital Adrenal Hyperplasia
por: Witchel, Selma Feldman, et al.
Publicado: (2010)

Congenital lipoid adrenal hyperplasia
por: Kim, Chan Jong
Publicado: (2014)

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
por: Zheng, Wanqi, et al.
Publicado: (2023)

New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images
por: Jiang, Yuqing, et al.
Publicado: (2023)

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
por: Zhang, Lei, et al.
Publicado: (2013)

Acute Gastroenteritis Induced Adrenal Crisis in a patient with Congenital Adrenal Hyperplasia: A Case Report
por: Chapagain, Nibedita, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_31p4k2l6holdcmafsbr3i6eoju