# Molecular genetics in pediatric endocrinology: 35 years of research **Authors:** В. А. Петеркова, О. Б. Безлепкина, М. С. Панкратова, И. С. Чугунов, Д. Н. Лаптев, Е. В. Нагаева, Т. Ю. Ширяева, А. А. Колодкина, Л. С. Созаева, Е. В. Титович, А. В. Болмасова, Т. Л. Кураева PMC · DOI: 10.14341/probl13593 · Problems of Endocrinology · 2025-05-20 ## TL;DR This paper reviews 35 years of molecular genetics research in pediatric endocrinology, focusing on diagnostic and therapeutic advancements. ## Contribution The paper highlights the development and application of molecular genetics in pediatric endocrinology over three decades in a Russian research center. ## Key findings - Molecular genetics has enabled better diagnosis and treatment in pediatric endocrinology. - Collaboration with genetic and immunology centers has enhanced research capabilities. - A dedicated molecular genetics laboratory was established in 2001 to support clinical research. ## Abstract Современная детская эндокринология – это рассвет диагностики и лечения на основе научных изысканий в области молекулярной генетики и разработки технических средств диагностики и лечения. В детской клинике Эндокринологического научного центра  РАМН (далее ЭНЦ), позднее -  Институте детской эндокринологии ФГБУ «НМИЦ эндокринологии» Минздрава России молекулярно-генетические исследования, начатые в 1990 году, проводились совместно с Медико-генетическим научным центром им. Н.П. Бочкова,   Институтом иммунологии, а также в кооперации с зарубежными клиниками. С 2001 года в ЭНЦ функционирует лаборатория молекулярной генетики. ## Full-text entities - **Genes:** TACR3 (tachykinin receptor 3) [NCBI Gene 6870] {aka HH11, NK-3R, NK3, NK3R, NKR, TAC3R}, AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2) [NCBI Gene 10555] {aka 1-AGPAT2, BSCL, BSCL1, LPAAB, LPAAT-beta, LPLAT2}, SIM1 (SIM bHLH transcription factor 1) [NCBI Gene 6492] {aka bHLHe14}, GNRHR (gonadotropin releasing hormone receptor) [NCBI Gene 2798] {aka GNRHR1, GRHR, HH7, LHRHR, LRHR}, THRB (thyroid hormone receptor beta) [NCBI Gene 7068] {aka C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH}, KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) [NCBI Gene 3758] {aka KIR1.1, ROMK, ROMK1}, CACNA1D (calcium voltage-gated channel subunit alpha1 D) [NCBI Gene 776] {aka CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA}, SP7 (Sp7 transcription factor) [NCBI Gene 121340] {aka OI11, OI12, OSX, osterix}, CHD7 (chromodomain helicase DNA binding protein 7) [NCBI Gene 55636] {aka CRG, HH5, IS3, KAL5}, TBC1D4 (TBC1 domain family member 4) [NCBI Gene 9882] {aka AS160, NIDDM5}, MC1R (melanocortin 1 receptor) [NCBI Gene 4157] {aka CMM5, MSH-R, SHEP2}, MPI (mannose phosphate isomerase) [NCBI Gene 4351] {aka CDG1B, PMI, PMI1}, ACADM (acyl-CoA dehydrogenase medium chain) [NCBI Gene 34] {aka ACAD1, MCAD, MCADH}, AMH (anti-Mullerian hormone) [NCBI Gene 268] {aka MIF, MIS}, BBS10 (Bardet-Biedl syndrome 10) [NCBI Gene 79738] {aka C12orf58}, FBP1 (fructose-bisphosphatase 1) [NCBI Gene 2203] {aka FBP}, DLK1 (delta like non-canonical Notch ligand 1) [NCBI Gene 8788] {aka DLK, DLK-1, Delta1, FA1, PREF1, Pref-1}, AMHR2 (anti-Mullerian hormone receptor type 2) [NCBI Gene 269] {aka AMHR, MISR2, MISRII, MRII}, NKX2-5 (NK2 homeobox 5) [NCBI Gene 1482] {aka CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E}, SOX9 (SRY-box transcription factor 9) [NCBI Gene 6662] {aka CMD1, CMPD1, ENH13, SRA1, SRXX2, SRXY10}, SDHC (succinate dehydrogenase complex subunit C) [NCBI Gene 6391] {aka CYB560, CYBL, PGL3, PPGL3, QPS1, SDH3}, MCM4 (minichromosome maintenance complex component 4) [NCBI Gene 4173] {aka CDC21, CDC54, IMD54, NKCD, NKGCD, P1-CDC21}, SERPINH1 (serpin family H member 1) [NCBI Gene 871] {aka AsTP3, CBP1, CBP2, HSP47, OI10, PIG14}, CDKN1B (cyclin dependent kinase inhibitor 1B) [NCBI Gene 1027] {aka CDKN4, KIP1, MEN1B, MEN4, P27KIP1}, ESR1 (estrogen receptor 1) [NCBI Gene 2099] {aka ER, ESR, ESRA, ESTRR, Era, NR3A1}, HADH (hydroxyacyl-CoA dehydrogenase) [NCBI Gene 3033] {aka HAD, HADH1, HADHSC, HCDH, HHF4, MSCHAD}, FGF23 (fibroblast growth factor 23) [NCBI Gene 8074] {aka ADHR, FGFN, HFTC2, HPDR2, HYPF, PHPTC}, RET (ret proto-oncogene) [NCBI Gene 5979] {aka CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1}, HOXA13 (homeobox A13) [NCBI Gene 3209] {aka HOX1, HOX1J}, MID1 (midline 1) [NCBI Gene 4281] {aka BBBG1, FXY, GBBB, GBBB1, MIDIN, OGS1}, NUP107 (nucleoporin 107) [NCBI Gene 57122] {aka GAMOS7, NPHS11, NUP84, ODG6, ODG6; GAMOS7}, CACNA1H (calcium voltage-gated channel subunit alpha1 H) [NCBI Gene 8912] {aka CACNA1HB, Cav3.2, ECA6, EIG6, HALD4}, EPAS1 (endothelial PAS domain protein 1) [NCBI Gene 2034] {aka ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73}, CDC73 (cell division cycle 73) [NCBI Gene 79577] {aka C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX}, ALPL (alkaline phosphatase, biomineralization associated) [NCBI Gene 249] {aka AP-TNAP, APTNAP, HOPS, HPPA, HPPC, HPPI}, HLA-A (major histocompatibility complex, class I, A) [NCBI Gene 3105] {aka HLAA}, PPIB (peptidylprolyl isomerase B) [NCBI Gene 5479] {aka CYP-S1, CYPB, HEL-S-39, OI9, SCYLP}, ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) [NCBI Gene 5167] {aka ARHR2, COLED, M6S1, NPP1, NPPS, PC-1}, WNT4 (Wnt family member 4) [NCBI Gene 54361] {aka SERKAL, WNT-4}, LHX1 (LIM homeobox 1) [NCBI Gene 3975] {aka LIM-1, LIM1}, TSHR (thyroid stimulating hormone receptor) [NCBI Gene 7253] {aka CHNG1, LGR3, hTSHR-I}, ESR2 (estrogen receptor 2) [NCBI Gene 2100] {aka ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2}, GNAS (GNAS complex locus) [NCBI Gene 2778] {aka AHO, AIMAH1, C20orf45, GNAS1, GPSA, GSA}, KIF1B (kinesin family member 1B) [NCBI Gene 23095] {aka CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1}, COL1A2 (collagen type I alpha 2 chain) [NCBI Gene 1278] {aka EDSARTH2, EDSCV, OI4}, SCNN1B (sodium channel epithelial 1 subunit beta) [NCBI Gene 6338] {aka BESC1, ENaCb, ENaCbeta, LIDLS1, PHA1B2, SCNEB}, CYP11B1 (cytochrome P450 family 11 subfamily B member 1) [NCBI Gene 1584] {aka CPN1, CYP11B, FHI, P450C11}, HNF4A (hepatocyte nuclear factor 4 alpha) [NCBI Gene 3172] {aka FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha}, UBR1 (ubiquitin protein ligase E3 component n-recognin 1) [NCBI Gene 197131] {aka JBS}, SOX10 (SRY-box transcription factor 10) [NCBI Gene 6663] {aka DOM, PCWH, SOX-10, WS2E, WS4, WS4C}, PLIN1 (perilipin 1) [NCBI Gene 5346] {aka FPLD4, PERI, PLIN}, POLD1 (DNA polymerase delta 1, catalytic subunit) [NCBI Gene 5424] {aka CDC2, CRCS10, IMD120, MDPL, POLD}, SLC5A5 (solute carrier family 5 member 5) [NCBI Gene 6528] {aka NIS, TDH1}, VHL (von Hippel-Lindau tumor suppressor) [NCBI Gene 7428] {aka HRCA1, RCA1, VHL1, pVHL}, H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase) [NCBI Gene 9563] {aka CORTRD1, G6PDH, GDH, H6PDH}, KL (klotho) [NCBI Gene 9365] {aka HFTC3, KLA}, BBS4 (Bardet-Biedl syndrome 4) [NCBI Gene 585], CACNA1C (calcium voltage-gated channel subunit alpha1 C) [NCBI Gene 775] {aka CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2}, TMEM38B (transmembrane protein 38B) [NCBI Gene 55151] {aka C9orf87, D4Ertd89e, OI14, TRIC-B, TRICB, bA219P18.1}, FOXF2 (forkhead box F2) [NCBI Gene 2295] {aka FKHL6, FREAC-2, FREAC2} - **Diseases:** DIDMOAD (MESH:D014929), SD (MESH:D012735), diabet (MESH:D003920), diabetom 1 (MESH:C538557), MODY (MESH:D003924) - **Chemicals:** S (MESH:D013455), etim (-) ## Full text _Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12117980/full.md ## Figures 8 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12117980/full.md ## References 24 references — full list in the complete paper: https://tomesphere.com/paper/PMC12117980/full.md --- Source: https://tomesphere.com/paper/PMC12117980