Research & Literature

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.

Neocleous V, Shammas C, Phelan MM, et al.

Clinical endocrinology 2016; (84(1)):80-4 doi:10.1111/cen.12854.

Evaluation and Referral of Children With Signs of Early Puberty.

Kaplowitz P, Bloch C,

Pediatrics 2016; (137(1)) doi:10.1542/peds.2015-3732.

Pubertal development and regulation.

Abreu AP, Kaiser UB

The lancet. Diabetes & endocrinology 2016; (4(3)):254-264 doi:10.1016/S2213-8587(15)00418-0.

Circulating MKRN3 Levels Decline During Puberty in Healthy Boys.

Busch AS, Hagen CP, Almstrup K, Juul A

The Journal of clinical endocrinology and metabolism 2016; (101(6)):2588-93 doi:10.1210/jc.2016-1488.

Long-term metabolic risk among children born premature or small for gestational age.

Mericq V, Martinez-Aguayo A, Uauy R, et al.

Nature reviews. Endocrinology 2017; (13(1)):50-62 doi:10.1038/nrendo.2016.127.

Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty.

Ortiz-Cabrera NV, Riveiro-Álvarez R, López-Martínez MÁ, et al.

Hormone research in paediatrics 2017; (87(2)):88-94 doi:10.1159/000453262.

Serum Anti-Müllerian Hormone Levels in Precocious Puberty Girls according to Stage of GnRH Agonist Treatment.

Nam HK, Kim HR, Rhie YJ, Lee KH

Journal of Korean medical science 2017; (32(3)):475-479 doi:10.3346/jkms.2017.32.3.475.

Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity.

Harrison VS, Oatman O, Kerrigan JF

Epilepsia 2017; (58 Suppl 2()):50-59 doi:10.1111/epi.13756.

Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study.

Menk TAS, Inácio M, Macedo DB, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(6)):657-662.

Central Precocious Puberty - Management and Long-term Outcomes.

Léger J, Carel JC

European endocrinology 2015; (11(1)):45-46 doi:10.17925/EE.2015.11.01.45.

Central precocious puberty: From genetics to treatment.

Aguirre RS, Eugster EA

Best practice & research. Clinical endocrinology & metabolism 2018; (32(4)):343-354 doi:10.1016/j.beem.2018.05.008.

DLK1 Is a Novel Link Between Reproduction and Metabolism.

Gomes LG, Cunha-Silva M, Crespo RP, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(6)):2112-2120 doi:10.1210/jc.2018-02010.

[Idiopathic precocious puberty is common in girls].

Senning DL, Rix M, Andersen G, Leunbach TL

Ugeskrift for laeger 2019; (181(29)).

The imprinted gene Delta like non-canonical notch ligand 1 (Dlk1) associates with obesity and triggers insulin resistance through inhibition of skeletal muscle glucose uptake.

Jensen CH, Kosmina R, Rydén M, et al.

EBioMedicine 2019; (46()):368-380 doi:10.1016/j.ebiom.2019.07.070.

Pioneering studies on monogenic central precocious puberty.

Canton APM, Seraphim CE, Brito VN, Latronico AC

Archives of endocrinology and metabolism 2019; (63(4)):438-444 doi:10.20945/2359-3997000000164.

Near final adult height, and body mass index in overweight/obese and normal-weight children with idiopathic central precocious puberty and treated with gonadotropin-releasing hormone analogs.

Sinthuprasith P, Dejkhamron P, Wejaphikul K, Unachak K

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(12)):1369-1375.

Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome.

Schwartz NS, Regelmann MO

International journal of pediatric endocrinology 2019; (2019()):2 doi:10.1186/s13633-019-0067-8.

Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog.

Ramos CO, Macedo DB, Canton APM, et al.

Neuroendocrinology 2020; (110(7-8)):705-713 doi:10.1159/000504446.

MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons.

Abreu AP, Toro CA, Song YB, et al.

The Journal of clinical investigation 2020; (130(8)):4486-4500.

Pathological and Incidental Findings in 403 Taiwanese Girls With Central Precocious Puberty at Initial Diagnosis.

Chiu CF, Wang CJ, Chen YP, Lo FS

Frontiers in endocrinology 2020; (11()):256 doi:10.3389/fendo.2020.00256.

Makorin rings the kisspeptin bell to signal pubertal initiation.

Abbara A, Dhillo WS

The Journal of clinical investigation 2020; (130(8)):3957-3960.

Utility and duration of leuprolide stimulation testing in children.

Nijjar JK, Weiss JJ, Misra M, Stanley TL

Journal of pediatric endocrinology & metabolism : JPEM 2020;.

GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.

Roberts SA, Kaiser UB

European journal of endocrinology 2020; (183(4)):R107-R117.

Makorin RING finger protein 3 and central precocious puberty.

Maione L, Naulé L, Kaiser UB

Current opinion in endocrine and metabolic research 2020; (14()):152-159 doi:10.1016/j.coemr.2020.08.003.

Hypothalamo-Pituitary axis and puberty.

Spaziani M, Tarantino C, Tahani N, et al.

Molecular and cellular endocrinology 2021; (520()):111094 doi:10.1016/j.mce.2020.111094.

Elevated Pre-injection Basal Luteinizing Hormone Concentrations are Common in Girls Treated for Central Precocious Puberty

Schubert S, Hvelplund AH, Handberg A, et al.

Journal of clinical research in pediatric endocrinology 2021; (13(2)):204-211 doi:10.4274/jcrpe.galenos.2020.2020.0210.

Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.

Seraphim CE, Canton APM, Montenegro L, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(4)):1041-1050 doi:10.1210/clinem/dgaa955.

Long-term efficacy and safety of gonadotropin-releasing hormone analog treatment in children with idiopathic central precocious puberty: A systematic review and meta-analysis.

Luo X, Liang Y, Hou L, et al.

Clinical endocrinology 2021; (94(5)):786-796 doi:10.1111/cen.14410.

Diagnostic evaluation of central precocious puberty in girls.

Yeh SN, Ting WH, Huang CY, et al.

Pediatrics and neonatology 2021; (62(2)):187-194 doi:10.1016/j.pedneo.2020.12.001.

Which parameters predict the beneficial effect of GnRHa treatment on height in girls with central precocious puberty?

Vuralli D, Gonc NE, Ozon ZA, et al.

Clinical endocrinology 2021; (94(5)):804-810 doi:10.1111/cen.14420.

Effects of gonadotropin-releasing hormone agonist treatment on final adult height in boys with idiopathic central precocious puberty.

Cho AY, Ko SY, Lee JH, Kim EY

Annals of pediatric endocrinology & metabolism 2021; (26(4)):259-265 doi:10.6065/apem.2040268.134.

Findings of Brain Magnetic Resonance Imaging in Girls with Central Precocious Puberty Compared with Girls with Chronic or Recurrent Headache.

Kim SH, Ahn MB, Cho WK, et al.

Journal of clinical medicine 2021; (10(10)) doi:10.3390/jcm10102206.

Gonadotropin releasing hormone analogue treatment of central precocious puberty is not associated with altered prevalence of polycystic ovary syndrome: a single center cohort study.

Karavani G, Chill HH, Schachter-Safrai N, et al.

Clinical diabetes and endocrinology 2021; (7(1)):14 doi:10.1186/s40842-021-00129-4.

Genetic factors in precocious puberty.

Shim YS, Lee HS, Hwang JS

Clinical and experimental pediatrics 2022; (65(4)):172-181 doi:10.3345/cep.2021.00521.

Triptorelin stimulated luteinizing hormone concentrations for diagnosing central precocious puberty: study of diagnostic accuracy.

Vukovic R, Milenkovic T, Soldatovic I, et al.

Endocrine 2022; (75(3)):934-941 doi:10.1007/s12020-021-02947-z.

New insights into precocious puberty and ADHD: a nationwide cohort study.

Pai LF, Wang DS, Hsu WF, et al.

Pediatric research 2022; (92(6)):1787-1794 doi:10.1038/s41390-022-02028-5.

Central precocious puberty during COVID-19 pandemic and sleep disturbance: an exploratory study.

Umano GR, Maddaluno I, Riccio S, et al.

Italian journal of pediatrics 2022; (48(1)):60 doi:10.1186/s13052-022-01256-z.

The Key Roles of Makorin RING Finger Protein 3 (MKRN3) During the Development of Pubertal Initiation and Central Precocious Puberty (CPP).

Liu J, Li T, Peng M, et al.

Current molecular medicine 2023; (23(7)):668-677 doi:10.2174/1566524022666220624105430.

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.

Juriaans AF, Kerkhof GF, Mahabier EF, et al.

Journal of clinical medicine 2022; (11(21)) doi:10.3390/jcm11216289.

Final adult height in children with central precocious puberty - a retrospective study.

Knific T, Lazarevič M, Žibert J, et al.

Frontiers in endocrinology 2022; (13()):1008474 doi:10.3389/fendo.2022.1008474.

Genetic, epigenetic and enviromental influencing factors on the regulation of precocious and delayed puberty.

Faienza MF, Urbano F, Moscogiuri LA, et al.

Frontiers in endocrinology 2022; (13()):1019468 doi:10.3389/fendo.2022.1019468.

A Clinical Study of Girls With Idiopathic Central Precocious Puberty and Psychological Behavior Problems.

Xie LL, Yang Y, Xiong XY, et al.

Clinical pediatrics 2023; (62(8)):914-918 doi:10.1177/00099228221149551.

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome

Yordanova N, Iotova V, Mackay DJG, et al.

Journal of clinical research in pediatric endocrinology 2024; (16(4)):475-480 doi:10.4274/jcrpe.galenos.2022.2022-9-19.

Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.

Kırkgöz T, Kaygusuz SB, Alavanda C, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(4)):401-408 doi:10.1515/jpem-2022-0645.

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.

Magnotto JC, Mancini A, Bird K, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(7)):1646-1656 doi:10.1210/clinem/dgad151.

Leuprolide and triptorelin treatment in children with idiopathic central precocious puberty: an efficacy/tolerability comparison study.

Valenzise M, Nasso C, Scarfone A, et al.

Frontiers in pediatrics 2023; (11()):1170025 doi:10.3389/fped.2023.1170025.

Prevalence of Attention Deficit Hyperactivity Disorder in Girls With Central Precocious Puberty.

Lee J, Lee SI, Lee YM, Hong YH

Journal of attention disorders 2023; (27(13)):1460-1466 doi:10.1177/10870547231180116.

Body mass index evolution and ovarian function in adolescent girls who received GnRH agonist treatment for central precocious puberty or early and fast puberty.

Buyukyilmaz G, Koca SB, Adiguzel KT, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(11)):1044-1051 doi:10.1515/jpem-2023-0232.

Central precocious puberty: is routine brain MRI screening necessary for girls?: Commentary on "Brain magnetic resonance imaging (MRI) findings in central precocious puberty patients: is routine MRI necessary for newly diagnosed patients?"

Lee HS

Annals of pediatric endocrinology & metabolism 2023; (28(3)):155-156 doi:10.6065/apem.2322096edi07.

The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty.

Chen Z, You Q, Wang J, et al.

American journal of medical genetics. Part A 2024; (194(4)):e63460 doi:10.1002/ajmg.a.63460.

Screening for central precocious puberty by single basal Luteinizing Hormone levels.

Li Pomi A, Scalini P, De Masi S, et al.

Endocrine 2024; (85(2)):955-963 doi:10.1007/s12020-024-03781-9.

Diagnostic Value of Single LH and LH/FSH Ratio at 60-minute after GnRHa Stimulation Test for Central Precocious Puberty.

Wang Q, Wu D, Zeng Q, et al.

Indian journal of pediatrics 2025; (92(8)):853-859 doi:10.1007/s12098-024-05137-7.

The genetic etiology is a relevant cause of central precocious puberty.

Canton APM, Seraphim CE, Montenegro LR, et al.

European journal of endocrinology 2024; (190(6)):479-488 doi:10.1093/ejendo/lvae063.

Comprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 Patients.

Narusawa H, Ogawa T, Yagasaki H, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(4)):1023-1036 doi:10.1210/clinem/dgae666.

Potential Role of Sleep Disturbance in the Development of Early Puberty: Past Clinical Evidence for Future Management.

Puttawong D, Wejaphikul K, Thonusin C, et al.

Pediatric neurology 2024; (161()):117-124 doi:10.1016/j.pediatrneurol.2024.09.010.

Revising LH cut-off for the diagnosis of central precocious puberty via triptorelin stimulation assay.

Cavarzere P, Sandri M, Arrigoni M, et al.

Endocrine 2025; (87(2)):842-849 doi:10.1007/s12020-024-04055-0.

The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation.

D Apos Aniello F, Mariniello K, Al Sayed Y, et al.

Hormone research in paediatrics 2026; (99(1)):38-48 doi:10.1159/000541554.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Ogawa T, Narusawa H, Nagasaki K, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(9)):e3041-e3051 doi:10.1210/clinem/dgae883.

A novel model of central precocious puberty disease: Paternal MKRN3 gene-modified rabbit.

Chen B, Ye X, Chen L, et al.

Animal models and experimental medicine 2025; (8(3)):511-522 doi:10.1002/ame2.12544.

Precocious puberty: a comprehensive review of diagnosis and clinical presentation, etiology, and treatment.

Srilanchakon K, Supornsilchai V, Wacharasindhu S, Savage MO

Asian biomedicine :, research, reviews and news.. 2025; (19(2)):69-77 doi:10.2478/abm-2025-0009.

Precocious Puberty and Risk of Psychiatric Disorders: A Nationwide Cohort Study Using Prospective Registry Data.

Hueg TK, Lim YH, Holmboe SA, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(4)):e1088-e1096 doi:10.1210/clinem/dgaf567.

Outcomes of Patients With Familial Central Precocious Puberty due to Mutations of MKRN3 Gene After Treatment With Gonadotropin-Releasing Hormone Agonist.

Chen Z, Li W, Wang J, et al.

International journal of endocrinology 2025; (2025()):5609749 doi:10.1155/ije/5609749.

Final adult height in male patients with central precocious puberty after gonadotropin-releasing hormone agonist treatment.

Cho KW, Kim YK, Yoo JE, et al.

Annals of pediatric endocrinology & metabolism 2026; (31(1)):30-37 doi:10.6065/apem.2550064.032.