This work is licensed under the Creative Commons Attribution 4.0 International License.
Vantyghem MC, Dobbelaere D, Mention K, Wemeau JL, Saudubray JM, Douillard C. Endocrine manifestations related to inherited metabolic diseases in adults. Orphanet J Rare Dis. 2012;7:11. doi: 10.1186/1750-1172-7-11VantyghemMCDobbelaereDMentionKWemeauJLSaudubrayJMDouillardCEndocrine manifestations related to inherited metabolic diseases in adults201271110.1186/1750-1172-7-11334954422284844Open DOISearch in Google Scholar
Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Arch Dis Child. 2006;91(11):896–9. doi: 10.1136/adc.2005.091637SandersonSGreenAPreeceMABurtonHThe incidence of inherited metabolic disorders in the West Midlands, UK20069111896910.1136/adc.2005.091637208293416690699Open DOISearch in Google Scholar
Stępień KM, Hendriksz CJ. The principles of the transition process from paediatric to adult services in inborn errors of metabolism – own experience. Dev Period Med. 2015;19(4):523–7.StępieńKMHendrikszCJThe principles of the transition process from paediatric to adult services in inborn errors of metabolism – own experience20151945237Search in Google Scholar
McDermott JH, Walsh CH. Hypogonadism in hereditary hemo-chromatosis. J Clin Endocrinol Metab. 2005;90(4):2451–5. doi: 10.1210/jc.2004-0980McDermottJHWalsh CH. Hypogonadism in hereditary hemo-chromatosis20059042451510.1210/jc.2004-098015657376Open DOISearch in Google Scholar
Buretić-Tomljanović A, Vlastelić I, Radojcić Badovinac A, Starcević-Cizmarević N, Nadalin S, Ristić S. The impact of hemo-chromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men. Fertil Steril. 2009;91(5):1793–800. doi: 10.1016/j.fertnstert.2008.02.129Buretić-TomljanovićAVlastelićIRadojcić BadovinacAStarcević-CizmarevićNNadalinSRistićSThe impact of hemo-chromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men2009915179380010.1016/j.fertnstert.2008.02.12918395717Open DOISearch in Google Scholar
Giannitrapani L, Soresi M, La Spada E, Cervello M, D’Alessandro N, Montalto G. Sex hormones and risk of liver tumor. Ann N Y Acad Sci. 2006;1089:228–36. doi: 10.1196/annals.1386.044GiannitrapaniLSoresiMLa SpadaECervelloMD’AlessandroNMontaltoGSex hormones and risk of liver tumor200610892283610.1196/annals.1386.04417261770Open DOISearch in Google Scholar
Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, et al. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Mol Genet Metab. 2011;104(1–2):160–6. doi: 10.1016/j.ymgme.2011.05.016WangYBusinRReevesCBezmanLRaymondGToomerCJet alX-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism20111041–2160610.1016/j.ymgme.2011.05.01621700483Open DOISearch in Google Scholar
Polgreen LE, Chahla S, Miller W, Rothman S, Tolar J, Kivisto T, et al. Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison’s disease improves survival and neurological outcomes. Eur J Pediatr. 2011;170(8):1049–54. doi: 10.1007/s00431-011-1401-1PolgreenLEChahlaSMillerWRothmanSTolarJKivistoTet alEarly diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison’s disease improves survival and neurological outcomes2011170810495410.1007/s00431-011-1401-1310127821279382Open DOISearch in Google Scholar
Assies J, Gooren LJ, Van Geel B, Barth PG. Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study. Int J Androl. 1997;20(5):315–21. doi: 10.1046/j.1365-2605.1997.00066.xAssiesJGoorenLJVan GeelBBarthPGSigns of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study19972053152110.1046/j.1365-2605.1997.00066.x16130276Open DOISearch in Google Scholar
Aversa A, Palleschi S, Cruccu G, Silvestroni L, Isidori A, Fabbri A. Rapid decline of fertility in a case of adrenoleukodystrophy. Hum Reprod. 1998;13(9):2474–9. doi: 10.1093/humrep/13.9.2474AversaAPalleschiSCruccuGSilvestroniLIsidoriAFabbriARapid decline of fertility in a case of adrenoleukodystrophy19981392474910.1093/humrep/13.9.24749806270Open DOISearch in Google Scholar
López-Erauskin J, Fourcade S, Galino J, Ruiz M, Schlüter A, Naudi A, et al. Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy. Ann Neurol. 2011;70(1):84–92. doi: 10.1002/ana.22363López-ErauskinJFourcadeSGalinoJRuizMSchlüterANaudiAet alAntioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy2011701849210.1002/ana.22363322984321786300Open DOISearch in Google Scholar
Jaeken J. Congenital disorders of glycosylation (CDG): it’s (nearly) all in it! J Inherit Metab Dis. 2011;34(4):853–8. doi: 10.1007/s10545-011-9299-3JaekenJCongenital disorders of glycosylation (CDG): it’s (nearly) all in it!2011344853810.1007/s10545-011-9299-321384229Open DOISearch in Google Scholar
de Zegher F, Jaeken J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Pediatr Res. 1995;37(4 Pt 1):395–401. doi: 10.1203/00006450-199504000-00003de ZegherFJaekenJEndocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence1995374 Pt 139540110.1203/00006450-199504000-000037596677Open DOISearch in Google Scholar
Kristiansson B, Stibler H, Wide L. Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta Paediatr. 1995;84(6):655–9. doi: 10.1111/j.1651- 2227.1995.tb13720.xKristianssonBStiblerHWideLGonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome1995846655910.1111/j.1651-2227.1995.tb13720.x7670249Open DOISearch in Google Scholar
Miller BS, Freeze HH, Hofmann GF, Sarafoglou K. Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab. 2011;103(1):101–3. doi: 10.1016/j.ymgme.2011.01.016MillerBSFreezeHHHofmannGFSarafoglouKPubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)20111031101310.1016/j.ymgme.2011.01.016386939721334936Open DOISearch in Google Scholar
Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, et al. Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. J Inherit Metab Dis. 2009;32(Suppl 1):S241–51. doi: 10.1007/s10545-009-1180-2ShantiBSilinkMBhattacharyaKHowardNJCarpenterKFietzMet alCongenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency200932Suppl 1S2415110.1007/s10545-009-1180-219396570Open DOISearch in Google Scholar
Chang IJ, He M, Lam CT. Congenital disorders of glycosylation. Ann Transl Med. 2018;6(24):477. doi: 10.21037/atm.2018.10.45ChangIJHeMLamCTCongenital disorders of glycosylation201862447710.21037/atm.2018.10.45633136530740408Open DOISearch in Google Scholar
Rubio-Gozalbo ME, Gubbels CS, Bakker JA, Menheere PP, Wodzig WK, Land JA. Gonadal function in male and female patients with classic galactosemia. Hum Reprod Update. 2010;16(2):177–88. doi: 10.1093/humupd/dmp038Rubio-GozalboMEGubbelsCSBakkerJAMenheerePPWodzigWKLandJAGonadal function in male and female patients with classic galactosemia20101621778810.1093/humupd/dmp03819793842Open DOISearch in Google Scholar
Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, et al. The natural history of classic galacto-semia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019;14(1):86. doi: 10.1186/s13023-019-1047-zRubio-GozalboMEHaskovicMBoschAMBurnyteBCoelhoAICassimanDet alThe natural history of classic galacto-semia: lessons from the GalNet registry20191418610.1186/s13023-019-1047-z648699631029175Open DOISearch in Google Scholar
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism. 2018;83:188–96. doi: 10.1016/j. metabol.2018.01.025DemirbasDCoelhoAIRubio-GozalboMEBerryGTHereditary galactosemia2018831889610.1016/j.metabol.2018.01.02529409891Open DOISearch in Google Scholar
Colhoun HO, Rubio Gozalbo EM, Bosch AM, Knerr I, Dawson C, Brady J, et al. Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions. Orphanet J Rare Dis. 2018;13(1):164. doi: 10.1186/s13023-018-0906-3ColhounHORubioGozalbo EMBoschAMKnerrIDawsonCBradyJet alFertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions201813116410.1186/s13023-018-0906-3614652430231941Open DOISearch in Google Scholar
Thakur M, Feldman G, Puscheck EE. Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. J Assist Reprod Genet. 2018;35(1):3–16. doi: 10.1007/s10815-017-1039-7ThakurMFeldmanGPuscheckEEPrimary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities201835131610.1007/s10815-017-1039-7575846228932969Open DOISearch in Google Scholar
Fridovich-Keil J, Walter J. Galactosaemia. In: Valle D, editor. The online metabolic and molecular bases of inherited disease, OM-MBID. New York, New York, USA: The McGrawHill Companies, Inc; 2008.Fridovich-KeilJWalterJGalactosaemiaValleDNew York, New York, USAThe McGrawHill Companies, Inc2008Search in Google Scholar
Gubbels CS, Welt CK, Dumoulin JC, Robben SG, Gordon CM, Dunselman GA, et al. The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. J Inherit Metab Dis. 2013;36(5):779–86. doi: 10.1007/s10545-012-9539-1GubbelsCSWeltCKDumoulinJCRobbenSGGordonCMDunselmanGAet alThe male reproductive system in classic galactosemia: cryptorchidism and low semen volume20133657798610.1007/s10545-012-9539-123053469Open DOISearch in Google Scholar
Kelley RI, Hennekam RC. The Smith-Lemli-opitz syndrome. J Med Genet. 2000;37(5):321–35. doi: 10.1136/jmg.37.5.321.KelleyRIHennekamRCThe Smith-Lemli-opitz syndrome20003753213510.1136/jmg.37.5.321173457310807690Open DOISearch in Google Scholar
Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM. Growth restriction in children with type B Niemann-Pick disease. J Pediatr. 2003;142(4):424–8. doi: 10.1067/mpd.2003.113WassersteinMPLarkinAEGlassRBSchuchmanEHDesnickRJMcGovernMMGrowth restriction in children with type B Niemann-Pick disease20031424424810.1067/mpd.2003.11312712061Open DOISearch in Google Scholar
Winkler L, Offner G, Krull F, Brodehl J. Growth and pubertal development in nephropathic cystinosis. Eur J Pediatr. 1993;152(3):244–9. doi: 10.1007/BF01956154WinklerLOffnerGKrullFBrodehlJGrowth and pubertal development in nephropathic cystinosis19931523244910.1007/BF019561548444253Open DOISearch in Google Scholar
Sansanwal P, Li L, Hsieh SC, Sarwal MM. Insights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis. J Inherit Metab Dis. 2010;33(6):775–86. doi: 10.1007/s10545-010-9203-6SansanwalPLiLHsiehSCSarwalMMInsights into novel cellular injury mechanisms by gene expression profiling in nephropathic cystinosis20103367758610.1007/s10545-010-9203-620865335Open DOISearch in Google Scholar
Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E. Cystinosis: a review. Orphanet J Rare Dis. 2016;11:47. doi: 10.1186/s13023-016-0426-yElmonemMAVeysKRSolimanNAvan DyckMvan den HeuvelLPLevtchenkoECystinosis: a review2016114710.1186/s13023-016-0426-y484106127102039Open DOISearch in Google Scholar
Besouw MT, Kremer JA, Janssen MC, Levtchenko EN. Fertility status in male cystinosis patients treated with cysteamine. Fertil Steril. 2010;93(6):1880–3. doi: 10.1016/j.fertnstert.2008.12.113BesouwMTKremerJAJanssenMCLevtchenkoENFertility status in male cystinosis patients treated with cysteamine20109361880310.1016/j.fertnstert.2008.12.11319217094Open DOISearch in Google Scholar
Reiss RE, Kuwabara T, Smith ML, Gahl WA. Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis. N Engl J Med. 1988;319(4):223–6. doi: 10.1056/NEJM198807283190406ReissREKuwabaraTSmithMLGahlWASuccessful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis19883194223610.1056/NEJM1988072831904063292915Open DOISearch in Google Scholar
Faggiano A, Pisani A, Milone F, Gaccione M, Filippella M, Santoro A, et al. Endocrine dysfunction in patients with Fabry disease. J Clin Endocrinol Metab. 2006;91(11):4319–25. doi: 10.1210/jc.2006-0858FaggianoAPisaniAMiloneFGaccioneMFilippellaMSantoroAet alEndocrine dysfunction in patients with Fabry disease2006911143192510.1210/jc.2006-085816926253Open DOISearch in Google Scholar
Lacombe D, Germain DP, Papaxanthos-Roche A. Azoospermie: un nouveau signe d’appel de la maladie de Fabry [Azoospermia as a new feature of Fabry disease]. Rev Med Interne. 2010;31(Suppl 2):S214–6. French. doi: 10.1016/S0248-8663(10)70014-XLacombeDGermainDPPapaxanthos-RocheAAzoospermie: un nouveau signe d’appel de la maladie de Fabry [Azoospermia as a new feature of Fabry disease]201031Suppl 2S214610.1016/S0248-8663(10)70014-XOpen DOISearch in Google Scholar
Amicus Therapeutics. Galafold™ (migalastat) capsules, for oral use: US prescribing information; 2018. Available from: https://www.fda.gov/ Accessed 29 Nov 2019.2018Available fromhttps://www.fda.gov/Accessed 29 Nov 2019Search in Google Scholar
Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S. Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol. 2017;13(2):92–104. doi: 10.1038/nrendo.2016.151ChowJRahmanJAchermannJCDattaniMTRahmanSMitochondrial disease and endocrine dysfunction20171329210410.1038/nrendo.2016.15127716753Open DOISearch in Google Scholar
Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci USA. 2011;108(16):6543–8. doi: 10.1073/pnas.1103471108PierceSBChisholmKMLynchEDLeeMKWalshTOpitzJMet alMutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome2011108166543810.1073/pnas.1103471108308102321464306Open DOISearch in Google Scholar
Gironi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini FR, et al. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology. 2004;62(5):818–20. doi: 10.1212/01.wnl.0000113719.67643.b7GironiMLampertiCNemniRMoggioMComiGGueriniFRet alLate-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency20046258182010.1212/01.wnl.0000113719.67643.b715007142Open DOISearch in Google Scholar
Carod-Artal FJ, Herrero MD, Lara MC, López-Gallardo E, Ruiz-Pesini E, Martí R, et al. Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. Eur J Neurol. 2007;14(5):581–5. doi: 10.1111/j.1468-1331.2007.01720.xCarod-ArtalFJHerreroMDLaraMCLópez-GallardoERuiz-PesiniEMartíRet alCognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation2007145581510.1111/j.1468-1331.2007.01720.x17437622Open DOISearch in Google Scholar
Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf). 1992;37(1):97–103. doi: 10.1111/j.1365-2265.1992.tb02289.xHarveyJNBarnettDEndocrine dysfunction in Kearns-Sayre syndrome19923719710310.1111/j.1365-2265.1992.tb02289.x1424198Open DOISearch in Google Scholar
Rangwala SM, Wang X, Calvo JA, Lindsley L, Zhang Y, Deyneko G, et al. Estrogen-related receptor gamma is a key regulator of muscle mitochondrial activity and oxidative capacity. J Biol Chem. 2010;285(29):22619–29. doi: 10.1074/jbc.M110.125401RangwalaSMWangXCalvoJALindsleyLZhangYDeynekoGet alEstrogen-related receptor gamma is a key regulator of muscle mitochondrial activity and oxidative capacity201028529226192910.1074/jbc.M110.125401290338920418374Open DOISearch in Google Scholar
Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV. The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. Clin Endocrinol (Oxf). 1995;42(6):601–6. doi: 10.1111/j.1365-2265.1995.tb02686.x.LeePJPatelAHindmarshPCMowatAPLeonardJVThe prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism1995426601610.1111/j.1365-2265.1995.tb02686.x7634500Open DOISearch in Google Scholar
Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A, et al. Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. J Inherit Metab Dis. 2013;36(1):83–9. doi: 10.1007/s10545-012-9490-1SechiADeromaLLapollaAPaciSMelisDBurlinaAet alFertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study201336183910.1007/s10545-012-9490-122562700Open DOISearch in Google Scholar
Panis B, Gerver WJ, Rubio-Gozalbo ME. Growth in treated classical galactosemia patients. Eur J Pediatr. 2007;166(5):443–6. doi: 10.1007/s00431-006-0255-4PanisBGerverWJRubio-GozalboMEGrowth in treated classical galactosemia patients20071665443610.1007/s00431-006-0255-417024348Open DOISearch in Google Scholar
Polgreen LE, Miller BS. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(1):25–38. doi: 10.3233/PRM-2010-0106PolgreenLEMillerBSGrowth patterns and the use of growth hormone in the mucopolysaccharidoses201031253810.3233/PRM-2010-0106Open DOISearch in Google Scholar
Strisciuglio P, Di Maio S, Parenti G, Franzese A, Lubrano P, Mariano A, et al. Evidence of polyglandular involvement in Niemann-Pick disease type B. Eur J Pediatr. 1987;146(4):431–3. doi: 10.1007/BF00444957StrisciuglioPDiMaio SParentiGFranzeseALubranoPMarianoAet alEvidence of polyglandular involvement in Niemann-Pick disease type B19871464431310.1007/BF00444957Open DOISearch in Google Scholar
Cox NR, Morrison NE, Sartin JL, Buonomo FC, Steele B, Baker HJ. Alterations in the growth hormone/insulin-like growth factor I pathways in feline GM1 gangliosidosis. Endocrinology. 1999;140(12):5698–704. doi: 10.1210/endo.140.12.7178CoxNRMorrisonNESartinJLBuonomoFCSteeleBBakerHJAlterations in the growth hormone/insulin-like growth factor I pathways in feline GM1 gangliosidosis199914012569870410.1210/endo.140.12.7178Open DOISearch in Google Scholar
Kaushansky A, Frydman M, Kaufman H, Homburg R. Endocrine studies of the ovulatory disturbances in Wilson’s disease (hepatolenticular degeneration). Fertil Steril. 1987;47(2):270–3. doi: 10.1016/s0015-0282(16)50004-1KaushanskyAFrydmanMKaufmanHHomburgREndocrine studies of the ovulatory disturbances in Wilson’s disease (hepatolenticular degeneration)1987472270310.1016/s0015-0282(16)50004-1Open DOISearch in Google Scholar
Tan EY, Boelens JJ, Jones SA, Wynn RF. Hematopoietic stem cell transplantation in inborn errors of metabolism. Front Pediatr. 2019;7:433. doi: 10.3389/fped.2019.00433TanEYBoelensJJJonesSAWynnRFHematopoietic stem cell transplantation in inborn errors of metabolism2019743310.3389/fped.2019.00433682429131709204Open DOISearch in Google Scholar
Todkar K, Ilamathi HS, Germain M. Mitochondria and lysosomes: discovering bonds. Front Cell Dev Biol. 2017;5:106. doi: 10.3389/fcell.2017.00106TodkarKIlamathiHSGermainMMitochondria and lysosomes: discovering bonds2017510610.3389/fcell.2017.00106572546929270406Open DOISearch in Google Scholar
Bartelink IH, van Reij EM, Gerhardt CE, van Maarseveen EM, de Wildt A, Versluys B, et al. Fludarabine and exposure-targeted busulfan compares favorably with busulfan/cyclophosphamide-based regimens in pediatric hematopoietic cell transplantation: maintaining efficacy with less toxicity. Biol Blood Marrow Transplant. 2014;20(3):345–53. doi: 10.1016/j.bbmt.2013.11.027BartelinkIHvan ReijEMGerhardtCEvan MaarseveenEMde WildtAVersluysBet alFludarabine and exposure-targeted busulfan compares favorably with busulfan/cyclophosphamide-based regimens in pediatric hematopoietic cell transplantation: maintaining efficacy with less toxicity20142033455310.1016/j.bbmt.2013.11.02724315842Open DOISearch in Google Scholar
Al-Gadi IS, Haas RH, Falk MJ, Goldstein A, McCormack SE. Endocrine disorders in primary mitochondrial disease. J Endocr Soc. 2018;2(4):361–73. doi: 10.1210/js.2017-00434Al-GadiISHaasRHFalkMJGoldsteinAMcCormackSEEndocrine disorders in primary mitochondrial disease2018243617310.1210/js.2017-00434586553729594260Open DOISearch in Google Scholar
Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Lombardi G, et al. Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. J Pediatr. 2007;150(3):300–5, 305.e1. doi: 10.1016/j. jpeds.2006.11.056MelisDPivonelloRParentiGDellaCasa RSalernoMLombardiGet alIncreased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I200715033005305.e1. doi10.1016/j.jpeds.2006.11.05617307551Open DOISearch in Google Scholar
Ön ŞŞ, Acar S, Demir K, Abacı A, Öztürk Y, Kahveci Çelik S, et al. Evaluation of thyroid function tests in children with chronic liver diseases. J Clin Res Pediatr Endocrinol. 2020;12(2):143–9. doi: 10.4274/jcrpe.galenos.2019.2019.0029ÖnŞŞAcarSDemirKAbacıAÖztürkYKahveci ÇelikSet alEvaluation of thyroid function tests in children with chronic liver diseases2020122143910.4274/jcrpe.galenos.2019.2019.0029729139631486329Open DOISearch in Google Scholar
Liang WC, Nishino I. State of the art in muscle lipid diseases. Acta Myol. 2010;29(2):351–6.LiangWCNishinoIState of the art in muscle lipid diseases20102923516Search in Google Scholar
Benelli E, Fiore E, Giustarini E, Romani R, Pennisi E, Pinchera A, et al. Clear cells detection in nodular thyroid disease is not always indicative of neoplasia: description of the first case of thyroid involvement in multisystem triglyceride storage disease. Thyroid. 2008;18(9):1001–3. doi: 10.1089/thy.2007.0228BenelliEFioreEGiustariniERomaniRPennisiEPincheraAet alClear cells detection in nodular thyroid disease is not always indicative of neoplasia: description of the first case of thyroid involvement in multisystem triglyceride storage disease20081891001310.1089/thy.2007.022818788920Open DOISearch in Google Scholar
Laforêt P, Stojkovic T, Bassez G, Carlier PG, Clément K, Wahbi K, et al. Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. Mol Genet Metab. 2013;108(2):125–31. doi: 10.1016/j.ymgme.2012.12.004LaforêtPStojkovicTBassezGCarlierPGClémentKWahbiKet alNeutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study201310821253110.1016/j.ymgme.2012.12.00423333026Open DOISearch in Google Scholar
Mohamed M, Theodore M, Claahsen-van der Grinten H, van Herwaarden AE, Huijben K, van Dongen L, et al. Thyroid function in PMM2-CDG: diagnostic approach and proposed management. Mol Genet Metab. 2012;105(4):681–3. doi: 10.1016/j. ymgme.2012.02.001MohamedMTheodoreMClaahsen-vander Grinten Hvan HerwaardenAEHuijbenKvan DongenLet alThyroid function in PMM2-CDG: diagnostic approach and proposed management20121054681310.1016/j.ymgme.2012.02.00122386715Open DOISearch in Google Scholar
Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Rocca CJ, Liao XH, Refetoff S, et al. Hematopoietic stem cells transplantation can normalize thyroid function in a cystinosis mouse model. Endocrinology. 2016;157(4):1363–71. doi: 10.1210/en.2015-1762GaideChevronnay HPJanssensVVanDer Smissen PRoccaCJLiaoXHRefetoffSet alHematopoietic stem cells transplantation can normalize thyroid function in a cystinosis mouse model2016157413637110.1210/en.2015-1762481672426812160Open DOISearch in Google Scholar
Weinhofer I, Kunze M, Forss-Petter S, Berger J. Involvement of human peroxisomes in biosynthesis and signaling of steroid and peptide hormones. Subcell Biochem. 2013;69:101–10. doi: 10.1007/978-94-007-6889-5_6WeinhoferIKunzeMForss-PetterSBergerJInvolvement of human peroxisomes in biosynthesis and signaling of steroid and peptide hormones2013691011010.1007/978-94-007-6889-5_623821145Open DOISearch in Google Scholar
Bruno C, Minetti C, Tang Y, Magalhães PJ, Santorelli FM, Shanske S, et al. Primary adrenal insufficiency in a child with a mitochondrial DNA deletion. J Inherit Metab Dis. 1998;21(2):155–61. doi: 10.1023/a:1005347826664BrunoCMinettiCTangYMagalhãesPJSantorelliFMShanskeSet alPrimary adrenal insufficiency in a child with a mitochondrial DNA deletion19982121556110.1023/a:1005347826664Open DOISearch in Google Scholar
Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ. Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. Eur J Pediatr. 1998;157(8):643–7. doi: 10.1007/s004310050902BolesRGRoeTSenadheeraDMahnovskiVWongLJMitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease19981578643710.1007/s0043100509029727847Open DOISearch in Google Scholar
Hopkins SE, Somoza A, Gilbert DL. Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease. J Child Neurol. 2010;25(6):752–6. doi: 10.1177/0883073809343313HopkinsSESomozaAGilbertDLRare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease2010256752610.1177/088307380934331319815814Open DOISearch in Google Scholar
Shimizu J, Inatsu A, Oshima S, Shimizu E, Hirata H, Yasuda H, et al. Hyperkalemia in familial mitochondrial cytopathy. Clin Nephrol. 2008;70(4):348–53. doi: 10.5414/cnp70348ShimizuJInatsuAOshimaSShimizuEHirataHYasudaHet alHyperkalemia in familial mitochondrial cytopathy20087043485310.5414/cnp7034818826862Open DOISearch in Google Scholar
Watts RW, Harkness RA, Spellacy E, Taylor NF. Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids. J Inherit Metab Dis. 1987;10(3):210–23. doi: 10.1007/BF01800063WattsRWHarknessRASpellacyETaylorNFLesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids19871032102310.1007/BF018000632828760Open DOISearch in Google Scholar
Bianconi SE, Conley SK, Keil MF, Sinaii N, Rother KI, Porter FD, et al. Adrenal function in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2011 ;155A(11):2732–8. doi: 10.1002/ajmg.a.34271BianconiSEConleySKKeilMFSinaiiNRotherKIPorterFDet alAdrenal function in Smith-Lemli-Opitz syndrome2011155A112732–810.1002/ajmg.a.34271348838021990131Open DOISearch in Google Scholar
Donoghue SE, Pitt JJ, Boneh A, White SM. Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. J Pediatr Endocrinol Metab. 2018;31(4):451–9. doi: 10.1515/jpem-2017-0501DonoghueSEPittJJBonehAWhiteSMSmith-Lemli-Opitz syndrome: clinical and biochemical correlates2018314451910.1515/jpem-2017-050129455191Open DOISearch in Google Scholar
Saudubray JM, Sedel F. Les maladies héréditaires du métabolisme à l’âge adulte [Inborn errors of metabolism in adults]. Ann Endocrinol (Paris). 2009;70(1):14–24. French. doi: 10.1016/j.ando.2008.12.004SaudubrayJMSedelFLes maladies héréditaires du métabolisme à l’âge adulte [Inborn errors of metabolism in adults]2009701142410.1016/j.ando.2008.12.00419178907Open DOISearch in Google Scholar
Erdem E, Cayonu N, Uysalol E, Yildirmak ZY. Chronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis. J Pediatr Endocrinol Metab. 2010;23(5):503–5. doi: 10.1515/jpem.2010.082ErdemECayonuNUysalolEYildirmakZYChronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis2010235503510.1515/jpem.2010.08220662350Open DOISearch in Google Scholar
Marquard J, El Scheich T, Klee D, Schmitt M, Meissner T, Mayatepek E, et al. Chronic pancreatitis in branched-chain organic acidurias – a case of methylmalonic aciduria and an overview of the literature. Eur J Pediatr. 2011;170(2):241–5. doi: 10.1007/s00431-010-1313-5MarquardJElScheich TKleeDSchmittMMeissnerTMayatepekEet alChronic pancreatitis in branched-chain organic acidurias – a case of methylmalonic aciduria and an overview of the literature20111702241510.1007/s00431-010-1313-520924605Open DOISearch in Google Scholar
Vantyghem MC, Fajardy I, Dhondt F, Girardot C, D’Herbomez M, Danze PM, et al. Phenotype and HFE genotype in a population with abnormal iron markers recruited from an Endocrinology Department. Eur J Endocrinol. 2006;154(6):835–41. doi: 10.1530/eje.1.02152VantyghemMCFajardyIDhondtFGirardotCD’HerbomezMDanzePMet alPhenotype and HFE genotype in a population with abnormal iron markers recruited from an Endocrinology Department200615468354110.1530/eje.1.0215216728543Open DOISearch in Google Scholar
Ogimoto M, Anzai K, Takenoshita H, Kogawa K, Akehi Y, Yoshida R, et al. Criteria for early identification of aceruloplasminemia. Intern Med. 2011;50(13):1415–8. doi: 10.2169/internalmedicine.50.5108OgimotoMAnzaiKTakenoshitaHKogawaKAkehiYYoshidaRet alCriteria for early identification of aceruloplasminemia201150131415810.2169/internalmedicine.50.510821720062Open DOISearch in Google Scholar
Oki Y, Okubo M, Tanaka S, Nakanishi K, Kobayashi T, Murase T. Diabetes mellitus secondary to glycogen storage disease type III. Diabet Med. 2000;17(11):810–2. doi: 10.1046/j.1464-5491.2000.00378.xOkiYOkuboMTanakaSNakanishiKKobayashiTMuraseTDiabetes mellitus secondary to glycogen storage disease type III20001711810210.1046/j.1464-5491.2000.00378.x11131107Open DOISearch in Google Scholar
Ismail H. Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report. Cases J. 2009;2:6891. doi: 10.4076/1757-1627-2-6891IsmailHGlycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report20092689110.4076/1757-1627-2-6891274025319829878Open DOISearch in Google Scholar
Filler G, Amendt P, von Bredow MA, Rohde W, Ehrich JH. Slowly deteriorating insulin secretion and C-peptide production characterizes diabetes mellitus in infantile cystinosis. Eur J Pediatr. 1998;157(9):738–42. doi: 10.1007/s004310050926FillerGAmendtPvon BredowMARohdeWEhrichJHSlowly deteriorating insulin secretion and C-peptide production characterizes diabetes mellitus in infantile cystinosis199815797384210.1007/s0043100509269776533Open DOISearch in Google Scholar
Karicheva OZ, Kolesnikova OA, Schirtz T, Vysokikh MY, Mager-Heckel AM, Lombès A, et al. Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria. Nucleic Acids Res. 2011;39(18):8173–86. doi: 10.1093/nar/gkr546KarichevaOZKolesnikovaOASchirtzTVysokikhMYMager-HeckelAMLombèsAet alCorrection of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria2011391881738610.1093/nar/gkr546Open DOISearch in Google Scholar
Karaa A, Goldstein A. The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes. Pediatr Diabetes. 2015;16(1):1–9. doi: 10.1111/pedi.12223KaraaAGoldsteinAThe spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes20151611910.1111/pedi.12223Open DOISearch in Google Scholar
Laloi-Michelin M, Meas T, Ambonville C, Bellanné-Chantelot C, Beaufils S, Massin P, et al.; Mitochondrial diabetes French Study Group. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. J Clin Endocrinol Metab. 2009;94(8):3025–30. doi: 10.1210/jc.2008-2680Laloi-MichelinMMeasTAmbonvilleCBellanné-ChantelotCBeaufilsSMassinPet alMitochondrial diabetes French Study Group. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes200994830253010.1210/jc.2008-2680Open DOISearch in Google Scholar
Lightfoot YL, Chen J, Mathews CE. Role of the mitochondria in immune-mediated apoptotic death of the human pancreatic β cell line βLox5. PLoS One. 2011;6(6):e20617. doi: 10.1371/journal. pone.0020617LightfootYLChenJMathewsCERole of the mitochondria in immune-mediated apoptotic death of the human pancreatic β cell line βLox5201166e2061710.1371/journal.pone.0020617Open DOISearch in Google Scholar
Lindroos MM, Majamaa K, Tura A, Mari A, Kalliokoski KK, Taittonen MT, et al. m.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive beta-cell dysfunction. Diabetes. 2009;58(3):543–9. doi: 10.2337/db08-0981LindroosMMMajamaaKTuraAMariAKalliokoskiKKTaittonenMTet alm.3243A>G mutation in mitochondrial DNA leads to decreased insulin sensitivity in skeletal muscle and to progressive beta-cell dysfunction2009583543910.2337/db08-0981Open DOISearch in Google Scholar
Moravej H, Altassan R, Jaeken J, Enns GM, Ellaway C, Balasubramaniam S, et al. Hypoglycemia in CDG patients due to PMM2 mutations: follow up on hyperinsulinemic patients. JIMD Rep. 2019;51(1):76–81. doi: 10.1002/jmd2.12085MoravejHAltassanRJaekenJEnnsGMEllawayCBalasubramaniamSet alHypoglycemia in CDG patients due to PMM2 mutations: follow up on hyperinsulinemic patients2019511768110.1002/jmd2.12085Open DOISearch in Google Scholar
de Lonlay P, Seta N. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim Biophys Acta. 2009;1792(9):841–3. doi:10.1016/j.bbadis.2008.11.012de LonlayPSetaNThe clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib200917929841310.1016/j.bbadis.2008.11.012Open DOISearch in Google Scholar
Zeevaert R, Scalais E, Muino Mosquera L, De Meirleir L, De Beaufort C, Witsch M, et al. PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure. Acta Clin Belg. 2016;71(6):435–7. doi: 10.1080/17843286.2016.1142043ZeevaertRScalaisEMuinoMosquera LDe MeirleirLDe BeaufortCWitschMet alPGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure2016716435710.1080/17843286.2016.1142043Open DOISearch in Google Scholar
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005;165(6):675–83. doi: 10.1001/archinte.165.6.675MarshallJDBronsonRTCollinGBNordstromADMaffeiPPaiseyRBet alNew Alström syndrome phenotypes based on the evaluation of 182 cases200516566758310.1001/archinte.165.6.675Open DOISearch in Google Scholar
Tyni T, Rapola J, Palotie A, Pihko H. Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation. J Pediatr. 1997;131(5):766–8. doi: 10.1016/s0022-3476(97)70111-2.TyniTRapolaJPalotieAPihkoHHypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation19971315766810.1016/s0022-3476(97)70111-2Open DOISearch in Google Scholar
Baruteau J, Levade T, Redonnet-Vernhet I, Mesli S, Bloom MC, Broué P. Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD). J Pediatr Endocrinol Metab. 2009;22(12):1175–7. doi: 10.1515/jpem.2009.22.12.1175BaruteauJLevadeTRedonnet-VernhetIMesliSBloomMCBrouéPHypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD)200922121175710.1515/jpem.2009.22.12.117520333879Open DOISearch in Google Scholar
Gordon RJ, Levine MA. Genetic disorders of parathyroid development and function. Endocrinol Metab Clin North Am. 2018;47(4):809–23. doi: 10.1016/j.ecl.2018.07.007GordonRJLevineMAGenetic disorders of parathyroid development and function20184748092310.1016/j.ecl.2018.07.007623398830390815Open DOISearch in Google Scholar
Thoene JG. A review of the role of enhanced apoptosis in the pathophysiology of cystinosis. Mol Genet Metab. 2007;92(4):292–8. doi: 10.1016/j.ymgme.2007.07.008ThoeneJGA review of the role of enhanced apoptosis in the pathophysiology of cystinosis2007924292810.1016/j.ymgme.2007.07.00817728168Open DOISearch in Google Scholar
Baig NA, Herrine SK, Rubin R. Liver disease and diabetes mellitus. Clin Lab Med. 2001;21(1):193–207.BaigNAHerrineSKRubinR.Liver diseasediabetes mellitus2001211193207Search in Google Scholar
Karagiannis A, Harsoulis F. Gonadal dysfunction in systemic diseases. Eur J Endocrinol. 2005;152(4):501–13. doi: 10.1530/eje.1.01886KaragiannisAHarsoulisFGonadal dysfunction in systemic diseases200515245011310.1530/eje.1.0188615817904Open DOISearch in Google Scholar