Cargando…

X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

INTRODUCTION: X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Metwalley, Kotb Abbass, Farghaly, Hekma Saad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537693/ https://www.ncbi.nlm.nih.gov/pubmed/23272655 http://dx.doi.org/10.1186/1752-1947-6-428

Ejemplares similares

Consumptive hypothyroidism in an Egyptian baby with benign neonatal hemangiomatosis: a case report
por: Metwalley, Kotb Abbass, et al.
Publicado: (2013)

Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia
por: Metwalley, Kotb Abbass, et al.
Publicado: (2019)

Kenny-Caffey syndrome type 1 in an Egyptian girl
por: Metwalley, Kotb Abbass, et al.
Publicado: (2012)

Berardinelli-Seip syndrome type 1 in an Egyptian child
por: Metwalley, Kotb Abbass, et al.
Publicado: (2014)

Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report
por: Metwalley Kalil, Kotb Abbass, et al.
Publicado: (2012)

Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis
por: Metwalley, Kotb Abbass, et al.
Publicado: (2013)

Congenital hydrocephalus in an Egyptian baby with trisomy 18: a case report
por: Metwalley, Kotb A, et al.
Publicado: (2009)

Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report
por: Kalil, Kotb Abbass Metwalley, et al.
Publicado: (2012)

Hepatitis C virus infection in a child with autoimmune polyendocrine syndrome type 2: a case report
por: Metwalley, Kotb Abbass, et al.
Publicado: (2012)

Hepatitis C virus infection in Egyptian children with type 1 diabetes mellitus: A single center study
por: Farghaly, Hekma Saad, et al.
Publicado: (2014)

Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report
por: Metwalley, Kotb A, et al.
Publicado: (2012)

Hormone resistance in children: what primary care physicians need to know
por: Metwalley, Kotb Abbass, et al.
Publicado: (2021)

Endocrinal dysfunction in children with Down syndrome
por: Metwalley, Kotb Abbass, et al.
Publicado: (2022)

Subclinical hypothyroidism in children: updates for pediatricians
por: Metwalley, Kotb Abbass, et al.
Publicado: (2021)

Graves’ Disease in Children: An Update
por: Metwalley, Kotb Abbass, et al.
Publicado: (2023)

Evaluation of left ventricular mass and function, lipid profile, and insulin resistance in Egyptian children with growth hormone deficiency: A single-center prospective case-control study
por: Metwalley, Kotb Abbass, et al.
Publicado: (2013)

Assessment of serum levels of soluble CD40L in Egyptian children and adolescents with type 1 diabetes mellitus: Relationship to microalbuminuria and glycemic control
por: Metwalley, Kotb Abbass, et al.
Publicado: (2013)

Bone mineral status in Egyptian children with classic congenital adrenal hyperplasia. A single-center study from Upper Egypt
por: Metwalley, Kotb Abbass, et al.
Publicado: (2014)

Precocious puberty secondary to a mixed germ cell-sex cord-stromal tumor associated with an ovarian yolk sac tumor: a case report
por: Metwalley, Kotb Abbass, et al.
Publicado: (2012)

Prune belly syndrome in an Egyptian infant with Down syndrome: A case report
por: Metwalley, Kotb A, et al.
Publicado: (2008)

Soluble CD40 Ligand Levels in Children with Newly Diagnosed Graves’ Disease
por: Metwalley, Kotb Abbass, et al.
Publicado: (2020)

Ferritin levels in children and adolescents with type 1 diabetes mellitus: relationship with microvascular complications and glycemic control
por: Metwalley, Kotb Abbass, et al.
Publicado: (2020)

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

Vestibular function for children with insulin dependent diabetes using cervical vestibular evoked myogenic potentials testing
por: Hamed, Sherifa Ahmed, et al.
Publicado: (2022)

Endothelial dysfunction in children with newly diagnosed Graves’ disease
por: Gamal, Yasser, et al.
Publicado: (2023)

Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia
por: Seo, Boo Kyeong, et al.
Publicado: (2020)

Glucose homeostasis in Egyptian children and adolescents with β-Thalassemia major: Relationship to oxidative stress
por: Metwalley, Kotb Abbass, et al.
Publicado: (2014)

Midkine: Utility as a Predictor of Early Diabetic Nephropathy in Children with Type 1 Diabetes Mellitus
por: Metwalley, Kotb Abbass, et al.
Publicado: (2021)

Thyroid abnormalities in Egyptian children and adolescents with type 1 diabetes mellitus: A single center study from Upper Egypt
por: Metwalley, Kotb Abbass, et al.
Publicado: (2014)

Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
por: Flint, Jennifer L., et al.
Publicado: (2013)

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

Predictors of glycemic control in children with Type 1 diabetes mellitus in Assiut-Egypt
por: Mohammad, Hanaa A., et al.
Publicado: (2012)

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

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

Ovarian reserve in adolescent girls with autoimmune thyroiditis
por: Metwalley, Kotb A., et al.
Publicado: (2023)

Non-conventional Genetic Basis of Congenital Adrenal Hypoplasia in South Asia
por: Chatterjee, Sudip, et al.
Publicado: (2022)

Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
por: Suthiworachai, Chanisara, et al.
Publicado: (2018)

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

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

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

Cannot write session to /tmp/vufind_sessions/sess_qq01p7nn7bp1qo0ed7lqsupncb