Cargando…

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to a homozygous c.206...

Descripción completa

Detalles Bibliográficos
Autores principales:	Çetinkaya, Semra, Güran, Tülay, Kurnaz, Erdal, Keskin, Melikşah, Sağsak, Elif, Savaş Erdeve, Senay, Suntharalingham, Jenifer P., Buonocore, Federica, Achermann, John C., Aycan, Zehra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838375/ https://www.ncbi.nlm.nih.gov/pubmed/28739551 http://dx.doi.org/10.4274/jcrpe.4638

Ejemplares similares

A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene
por: Keskin, Melikşah, et al.
Publicado: (2017)

Investigation of MKRN3 Mutation in Patients with Familial Central Precocious Puberty
por: Aycan, Zehra, et al.
Publicado: (2018)

Antimüllerian Hormone Levels of Infants with Premature Thelarche
por: Muratoğlu Şahin, Nursel, et al.
Publicado: (2019)

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia
por: Bayramoğlu, Elvan, et al.
Publicado: (2021)

A case of prohormone convertase deficiency diagnosed with type 2 diabetes
por: Karacan Küçükali, Gülin, et al.
Publicado: (2021)

Perinatal outcomes of high-dose vitamin D administration in the last trimester
por: Karacan Küçükali, Gülin, et al.
Publicado: (2021)

Cases Referred from the Turkish National Screening Program: Frequency of Congenital Hypothyroidism and Etiological Distribution
por: Donbaloğlu, Zeynep, et al.
Publicado: (2019)

Effect of gonadotropin-releasing hormone analog treatment on final height in girls aged 6–10 years with central precocious and early puberty
por: Onat, Pınar Şimşek, et al.
Publicado: (2020)

Status of Central Precocious Puberty Cases at the Onset of Coronavirus Disease 2019 Pandemic: A Single-Center Experience
por: Orman, Burçe, et al.
Publicado: (2022)

Evaluation of Gonadotropin Responses and Response Times According to Two Different Cut-Off Values in Luteinizing Hormone Releasing Hormone Stimulation Test in Girls
por: Özalkak, Şervan, et al.
Publicado: (2020)

Evaluation of Growth Hormone Results in Different Diagnosis and Trend Over 10 Year of Follow-up: A Single Center Experience
por: Aycan, Zehra, et al.
Publicado: (2021)

A rare cause of salt-wasting in early infancy: Transient pseudohypoaldosteronism
por: Ceylan, Dilara, et al.
Publicado: (2021)

Evaluation of Children and Adolescents with Thyroid Nodules: A Single Center Experience
por: Elmaoğulları, Selin, et al.
Publicado: (2021)

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency
por: Maharaj, Avinaash, et al.
Publicado: (2022)

Hyperinsulinemic Hypoglycemia: Experience in A Series of 17 Cases
por: Yılmaz Ağladıoğlu, Sebahat, et al.
Publicado: (2013)

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
por: Suntharalingham, Jenifer P., et al.
Publicado: (2015)

Is Bioavailable Vitamin D Better Than Total Vitamin D to Evaluate Vitamin D Status in Obese Children?
por: Karacan Küçükali, Gülin, et al.
Publicado: (2021)

Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia
por: Savaş-Erdeve, Şenay, et al.
Publicado: (2021)

Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus
por: Orman, Burçe, et al.
Publicado: (2023)

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis
por: Kallali, Wafa, et al.
Publicado: (2020)

Eight-Year Follow-up of a Girl with McCune-Albright Syndrome
por: Aycan, Zehra, et al.
Publicado: (2011)

The Level of Inflammatory Markers and Their Relationship with Fat Tissue Distribution in Children with Obesity and Type 2 Diabetes Mellitus
por: Akalın Ertürk, Beyza, et al.
Publicado: (2023)

Early Ophthalmic Artery Blood Flow Parameter Changes in Patients with Type 1 Diabetes Mellitus
por: Ozates, Serdar, et al.
Publicado: (2020)

Proopiomelanocortin (POMC) and psychodermatology
por: Millington, George W. M., et al.
Publicado: (2023)

Analysis of CDKN1C in fetal growth restriction and pregnancy loss
por: Suntharalingham, Jenifer P., et al.
Publicado: (2020)

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
por: Maharaj, Avinaash, et al.
Publicado: (2022)

What Has National Screening Program Changed in Cases with Congenital Hypothyroidism?
por: Özgelen, Şebnem, et al.
Publicado: (2014)

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome
por: Suntharalingham, Jenifer P., et al.
Publicado: (2022)

Subnormal Growth Velocity and Related Factors During GnRH Analog Therapy for Idiopathic Central Precocious Puberty
por: Muratoğlu Şahin, Nursel, et al.
Publicado: (2018)

Unfavorable Effects of Low-carbonhydrate Diet in a Pediatric Patient with Type 1 Diabetes Mellitus
por: Güleryüz, Ceren, et al.
Publicado: (2023)

Unraveling the Central Proopiomelanocortin Neural Circuits
por: Mercer, Aaron J., et al.
Publicado: (2013)

Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
por: Karacan Küçükali, Gülin, et al.
Publicado: (2021)

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
por: Guran, Tulay, et al.
Publicado: (2016)

The role of proopiomelanocortin (POMC) neurones in feeding behaviour
por: Millington, George WM
Publicado: (2007)

Posttranslational Modifications of Proopiomelanocortin in Vertebrates and Their Biological Significance
por: Takahashi, Akiyoshi, et al.
Publicado: (2013)

Adult-born proopiomelanocortin neurons derived from Rax-expressing precursors mitigate the metabolic effects of congenital hypothalamic proopiomelanocortin deficiency
por: Surbhi, et al.
Publicado: (2021)

Analysis of genetic variability in Turner syndrome linked to long-term clinical features
por: Suntharalingham, Jenifer P., et al.
Publicado: (2023)

Molecular evolution of the proopiomelanocortin system in Barn owl species
por: Löw, Karin, et al.
Publicado: (2020)

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD
por: Buonocore, Federica, et al.
Publicado: (2019)

Newcastle disease virus-infected splenocytes express the proopiomelanocortin gene
Publicado: (1986)

Cannot write session to /tmp/vufind_sessions/sess_o6cahtjio8t1cj967h72vhtjdh