Research & Literature

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

Angulo MA, Butler MG, Cataletto ME

Journal of endocrinological investigation 2015; (38(12)):1249-63 doi:10.1007/s40618-015-0312-9.

Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation.

Härter B, Fuchs I, Müller T, et al.

Journal of pediatric gastroenterology and nutrition 2016; (62(4)):577-80 doi:10.1097/MPG.0000000000001018.

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.

Stijnen P, Ramos-Molina B, O'Rahilly S, Creemers JW

Endocrine reviews 2016; (37(4)):347-71 doi:10.1210/er.2015-1117.

PCSK1 Variants and Human Obesity.

Ramos-Molina B, Martin MG, Lindberg I

Progress in molecular biology and translational science 2016; (140()):47-74.

PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons.

Wang L, Sui L, Panigrahi SK, et al.

Stem cell reports 2017; (8(2)):264-277 doi:10.1016/j.stemcr.2016.12.021.

Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy.

Gönç EN, Özön A, Alikaşifoğlu A, Kandemir N

Journal of clinical research in pediatric endocrinology 2017; (9(3)):283-287 doi:10.4274/jcrpe.3986.

Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?

Ramos-Molina B, Molina-Vega M, Fernández-García JC, Creemers JW

Genes 2018; (9(6)) doi:10.3390/genes9060288.

Central adrenal insufficiency in children and adolescents.

Patti G, Guzzeti C, Di Iorgi N, et al.

Best practice & research. Clinical endocrinology & metabolism 2018; (32(4)):425-444 doi:10.1016/j.beem.2018.03.012.

A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.

Pépin L, Colin E, Tessarech M, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(4)):985-993 doi:10.1210/jc.2018-01854.

Gastroenteritis in Children.

Hartman S, Brown E, Loomis E, Russell HA

American family physician 2019; (99(3)):159-165.

Emergency management of adrenal insufficiency in children: advocating for treatment options in outpatient and field settings.

Miller BS, Spencer SP, Geffner ME, et al.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2020; (68(1)):16-25 doi:10.1136/jim-2019-000999.

Diazoxide for the Treatment of Hypoglycemia Resulting From Dumping Syndrome in a Child.

Mejia-Otero JD, Grishman EK, Patni N

Journal of the Endocrine Society 2019; (3(7)):1357-1360 doi:10.1210/js.2019-00120.

Rare genetic forms of obesity: From gene to therapy.

Clément K, Mosbah H, Poitou C

Physiology & behavior 2020; (227()):113134 doi:10.1016/j.physbeh.2020.113134.

Efficacy and Usability of Intranasal Glucagon for the Management of Hypoglycemia in Patients With Diabetes: A Systematic Review.

Singh-Franco D, Moreau C, Levin AD, et al.

Clinical therapeutics 2020; (42(9)):e177-e208 doi:10.1016/j.clinthera.2020.06.024.

Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.

Clément K, van den Akker E, Argente J, et al.

The lancet. Diabetes & endocrinology 2020; (8(12)):960-970 doi:10.1016/S2213-8587(20)30364-8.

Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism.

Roeper M, Salimi Dafsari R, Hoermann H, et al.

Frontiers in endocrinology 2020; (11()):580642 doi:10.3389/fendo.2020.580642.

A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.

Duclaux-Loras R, Bourgeois P, Lavrut PM, et al.

Clinics and research in hepatology and gastroenterology 2021; (45(6)):101640 doi:10.1016/j.clinre.2021.101640.

The melanocortin pathway and energy homeostasis: From discovery to obesity therapy.

Yeo GSH, Chao DHM, Siegert AM, et al.

Molecular metabolism 2021; (48()):101206 doi:10.1016/j.molmet.2021.101206.

Enteroendocrine Dysfunction in Two Saudi Sisters.

Ahmed ABM, Alsaleem BMR

Case reports in gastroenterology 2021; (15(1)):290-295 doi:10.1159/000511761.

Paediatrics: how to manage viral gastroenteritis.

Leung AK, Hon KL

Drugs in context 2021; (10()) doi:10.7573/dic.2020-11-7.

A case of prohormone convertase deficiency diagnosed with type 2 diabetes.

Karacan Küçükali G, Savaş Erdeve Ş, Çetinkaya S, et al.

Turkish archives of pediatrics 2021; (56(1)):81-84 doi:10.14744/TurkPediatriArs.2020.36459.

Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea.

Qian Y, Wu B, Liu R, et al.

Frontiers in genetics 2021; (12()):668326 doi:10.3389/fgene.2021.668326.

A Melanocortin-4 Receptor Agonist Induces Skin and Hair Pigmentation in Patients with Monogenic Mutations in the Leptin-Melanocortin Pathway.

Kanti V, Puder L, Jahnke I, et al.

Skin pharmacology and physiology 2021; (34(6)):307-316 doi:10.1159/000516282.

Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.

Aerts L, Terry NA, Sainath NN, et al.

Genes 2021; (12(5)) doi:10.3390/genes12050710.

Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide.

Wabitsch M, Farooqi S, Flück CE, et al.

Journal of the Endocrine Society 2022; (6(6)):bvac057 doi:10.1210/jendso/bvac057.

Congenital Hyperinsulinaemic Hypoglycaemia-A Review and Case Presentation.

Krawczyk S, Urbanska K, Biel N, et al.

Journal of clinical medicine 2022; (11(20)) doi:10.3390/jcm11206020.

Modulation of PC1/3 activity by a rare double-site homozygous mutation.

Ni Y, Chen X, Sun Y, et al.

Frontiers in pediatrics 2022; (10()):1026707 doi:10.3389/fped.2022.1026707.

Setmelanotide: a promising advancement for pediatric patients with rare forms of genetic obesity.

Trapp CM, Censani M

Current opinion in endocrinology, diabetes, and obesity 2023; (30(2)):136-140 doi:10.1097/MED.0000000000000798.

Acute Diarrhea and Severe Dehydration in Children: Does Non-anion-gap Component of Severe Metabolic Acidemia Need More Attention?

Takia L, Baranwal AK, Gupta PK, et al.

Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine 2022; (26(12)):1300-1307 doi:10.5005/jp-journals-10071-24367.

Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.

Folon L, Baron M, Toussaint B, et al.

The lancet. Diabetes & endocrinology 2023; (11(3)):182-190 doi:10.1016/S2213-8587(22)00392-8.

Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance.

Mushtaq T, Ali SR, Boulos N, et al.

Archives of disease in childhood 2023; (108(11)):871-878 doi:10.1136/archdischild-2022-325156.

Adrenal insufficiency management in the pediatric emergency setting and risk factors for adrenal crisis development.

Abrigo E, Munarin J, Bondone C, et al.

Italian journal of pediatrics 2023; (49(1)):63 doi:10.1186/s13052-023-01475-y.

Dumping Syndrome in Children: A Narrative Review.

Al-Jafari M, Alrosan S, Alkhawaldeh IM, et al.

Cureus 2023; (15(7)):e41407 doi:10.7759/cureus.41407.

Management of Monogenic and Syndromic Obesity.

Han JC, Rasmussen MC, Forte AR, et al.

Gastroenterology clinics of North America 2023; (52(4)):733-750 doi:10.1016/j.gtc.2023.08.005.

Recommendations for recognizing, risk stratifying, treating, and managing children and adolescents with hypoglycemia.

Zucchini S, Tumini S, Scaramuzza AE, et al.

Frontiers in endocrinology 2024; (15()):1387537 doi:10.3389/fendo.2024.1387537.

Setmelanotide in patients aged 2-5 years with rare MC4R pathway-associated obesity (VENTURE): a 1 year, open-label, multicenter, phase 3 trial.

Argente J, Verge CF, Okorie U, et al.

The lancet. Diabetes & endocrinology 2025; (13(1)):29-37 doi:10.1016/S2213-8587(24)00273-0.

Central Adrenal Insufficiency: Etiology and Diagnostic Approach

Yıldız M, Yıldırım R, Baş F

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):72-79 doi:10.4274/jcrpe.galenos.2024.2024-7-2-S.

Treatment and Prevention of Adrenal Crisis and Family Education

Çamtosun E, Sangün Ö

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):80-92 doi:10.4274/jcrpe.galenos.2024.2024-6-12-S.

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.

Huber LM, Subaşıoğlu A, Garczarczyk-Asim D, et al.

Clinical genetics 2025; (108(1)):102-106 doi:10.1111/cge.14717.

Adverse event profile of setmelanotide in obesity: an integrated assessment and systematic review using disproportionality analysis, case reports and meta-analysis.

Sridharan K, Sivaramakrishnan G

Expert opinion on drug safety 2026; (25(8)):1507-1516 doi:10.1080/14740338.2025.2465880.

A machine learning approach to predicting inpatient mortality among pediatric acute gastroenteritis patients in Kenya.

Ogwel B, Mzazi VH, Nyawanda BO, et al.

Learning health systems 2025; (9(2)):e10478 doi:10.1002/lrh2.10478.

Setmelanotide in Bardet-Biedl Syndrome: A Case Report.

Smith S, Sanfilippo E, Lee LW

Pediatric dermatology 2026; (43(5)):1196-1199 doi:10.1111/pde.70186.

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea.

Saraceno E, Faini AC, Deaglio S, et al.

JPGN reports 2026; (7(2)):242-246 doi:10.1002/jpr3.70127.