Cargando…

Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report

The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases, respectively. However, CAH due to 17α-hydroxylase deficiency (17OHD) is an extremely rare form of CAH (<1% of all CAH cases...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rashmi, KG, Ravichandran, Lavanya, Roy, Ayan, Naik, Dukhabandhu, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Chapla, Aaron, Thomas, Nihal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Journal of the ASEAN Federation of Endocrine Societies 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692439/ https://www.ncbi.nlm.nih.gov/pubmed/38045661 http://dx.doi.org/10.15605/jafes.038.02.08

Ejemplares similares

Abstract 134: Clinical profile of AAA syndrome a case series: A retrospective study
por: Venkatesh,, et al.
Publicado: (2022)

Treatment on Nature’s lap: Use of herbal products in the management of hyperglycemia
por: Giri, Somdatta, et al.
Publicado: (2023)

Adrenal crisis in a patient with APS2 due to COVID-19: A case report
por: Suryadevara, Varun, et al.
Publicado: (2022)

Islet cell dysfunction in patients with chronic pancreatitis
por: Roy, Ayan, et al.
Publicado: (2020)

Diabetes and pancreatic cancer: Exploring the two-way traffic
por: Roy, Ayan, et al.
Publicado: (2021)

Dipeptidyl peptidase-4 inhibitor-induced autoimmune diseases: Current evidence
por: Roy, Ayan, et al.
Publicado: (2021)

Dipeptidyl peptidase 4 inhibitors in COVID-19: Beyond glycemic control
por: Narayanan, Niya, et al.
Publicado: (2022)

Incretin based therapy and pancreatic cancer: Realising the reality
por: Suryadevara, Varun, et al.
Publicado: (2022)

Abstract 145: Etiological profile of precocious puberty: A JIPMER experience
por: Suryadevara, Varun, et al.
Publicado: (2022)

Timing of osteoporosis therapies following fracture: the current status
por: Palui, Rajan, et al.
Publicado: (2022)

Growth hormone and gastrointestinal malignancy: An intriguing link
por: Palui, Rajan, et al.
Publicado: (2023)

Abstract 128: Thyroid function abnormalities in hospitalized patients with COVID-19 infection – A cross-sectional study
por: Rashmi, K G, et al.
Publicado: (2022)

Primary hyperparathyroidism presenting as acute pancreatitis: An institutional experience with review of the literature
por: Rashmi, K G, et al.
Publicado: (2022)

ODP166 Autoantibody Positivity and Random C-peptide Profile in Young Ethnic South Indian Population with Diabetes Mellitus
por: Kamalanathan, Sadishkumar, et al.
Publicado: (2022)

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)

Peroxisome Proliferator-Activated Receptor α and γ Gene Polymorphisms among South Indian Patients with Diabetic Dyslipidaemia
por: Bage, Isaac J., et al.
Publicado: (2023)

The Association of Dyslipidemia and Atherogenic Indices With Glycemic Control in Diabetic Dyslipidemia Patients: A Real-World Landscape
por: Bage, Isaac J, et al.
Publicado: (2023)

Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia
por: Ravichandran, Lavanya, et al.
Publicado: (2022)

THU416 Trabecular Bone Score, Bone Mineral Density, And Fractures In Patients Of Chronic Kidney Disease With And Without Diabetes Mellitus
por: Suryadevara, Varun, et al.
Publicado: (2023)

The Risk of Fractures in Primary Hyperparathyroidism: A Meta‐Analysis
por: Narayanan, Niya, et al.
Publicado: (2021)

Comprehensive and Cost-Effective Strategy for Genetic Screening of Congenital Adrenal Hyperplasia (CAH) in India
por: Ravichandran, Lavanya, et al.
Publicado: (2021)

Abstract 41: Effect of zoledronic acid on bone mineral density in Indian postmenopausal osteoporotic women with and without diabetes – A prospective cohort study
por: Merugu, Chandhana, et al.
Publicado: (2022)

Treatment and Outcome of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Lee, Peter A., et al.
Publicado: (2010)

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Pignatelli, Duarte, et al.
Publicado: (2019)

Congenital adrenal hyperplasia due to 17-alpha hydroxylase deficiency with hypertensive encephalopathy, hypoglycemic seizures and adrenal insufficiency
por: Kumar, Narendra
Publicado: (2018)

Parathyroid Hormone Replacement versus Oral Calcium and Active Vitamin D Supplementation in Hypoparathyroidism: A Meta-analysis
por: Palui, Rajan, et al.
Publicado: (2020)

Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia
por: Nour, Munier A, et al.
Publicado: (2015)

Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia
por: Kolahdouz, Mahsa, et al.
Publicado: (2015)

Gender identity in congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency
por: Bin-Abbas, Bassam S., et al.
Publicado: (2006)

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Pignatelli, Duarte, et al.
Publicado: (2020)

17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report
por: Xu, Simiao, et al.
Publicado: (2017)

Improper sharp disposal practices among diabetes patients in home care settings: Need for concern?
por: Majumdar, Anindo, et al.
Publicado: (2015)

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

Acalculous pyelonephritis and cholecystitis occurring simultaneously in a diabetic patient on sitagliptin therapy
por: Sahoo, Jayaprakash, et al.
Publicado: (2015)

Adrenocortical tumor in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Phenotype of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
por: Dörr, Helmuth G., et al.
Publicado: (2019)

Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency
por: Gehrmann, Katharina, et al.
Publicado: (2019)

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Espinosa Reyes, Tania Mayvel, et al.
Publicado: (2020)

Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
por: Verhees, Myrthe J. M., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_mcrfb1c1fguh6j0ogoufvvs31k