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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

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ey0017.8-3 | Important for Clinical Practice | ESPEYB17

8.3. Frequency and incidence of Carney complex manifestations: A prospective multicenter study with a three-year follow-up

S Espiard , MC Vantyghem , G Assie , C Cardot-Bauters , G Raverot , F Brucker-Davis , F Archambeaud-Mouveroux , H Lefebvre , ML Nunes , A Tabarin , A Lienhardt , O Chabre , M Houang , M Bottineau , S Stroer , L Groussin , L Guignat , L Cabanes , A Feydy , F Bonnet , MO North , N Dupin , S Grabar , D Duboc , J Bertherat

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa002. PMID: 31912137.Carney complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome, described in 1985 by J. Aidan Carney (1). The diagnostic criteria include dermatologic manifestations (spotty skin pigmentation with typical periorificial distribution [known as lentigines], cutaneou...

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ey0017.11-9 | Body Weight Regulation and Insulin Sensitivity | ESPEYB17

11.9. Chronic mirabegron treatment increases human brown fat, HDL cholesterol, and insulin sensitivity

AE O’Mara , JW Johnson , JD Linderman , RJ Brychta , S McGehee , LA Fletcher , YA Fink , D Kapuria , TM Cassimatis , N Kelsey , C Cero , ZA Sater , F Piccinini , AS Baskin , BP Leitner , H Cai , CM Millo , W Dieckmann , M Walter , NB Javitt , Y Rotman , PJ Walter , M Ader , RN Bergman , P Herscovitch , KY Chen , AM Cypess

To read the full abstract: J Clin Invest. 2020;130(5):22092219. doi: https://pubmed.ncbi.nlm.nih.gov/31961826/This clinical study addressed the chronic effects of the β3-adrenergic receptor agonist mirabegron on BAT activity, blood parameters, and insulin sensitivity in a small cohort of healthy women (n =14). Participants were treated for 4 weeks orally with mirabegron ...

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ey0016.4-6 | Clinical Trials | ESPEYB16

4.6. rhIGF-1/rhIGFBP-3 in preterm Infants: A phase 2 randomized controlled trial

D Ley , B Hallberg , I Hansen-Pupp , C Dani , LA Ramenghi , N Marlow , K Beardsall , F Bhatti , D Dunger , JD Higginson , A Mahaveer , OJ Mezu-Ndubuisi , P Reynolds , C Giannantonio , M van Weissenbruch , N Barton , A Tocoian , M Hamdani , E Jochim , A Mangili , JK Chung , MA Turner , LEH Smith , A Hellstrom

To read the full abstract: J Pediatr. 2019;206:5665.e8.IGF-I plays a key role in fetal growth and development [1]. IGF-I exerts pleiotropic effects including cell proliferation, survival and differentiation, but also influencing metabolism and angiogenesis.Very preterm newborns show a rapid decline serum IGF-I concentrations that remain low for the first week...

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ey0016.10-2 | (1) | ESPEYB16

10.2. Closed-loop insulin delivery in suboptimally controlled type 1 diabetes: a multicentre, 12-week randomised trial

Tauschmann Martin , Bally Hood Thabit Lia , Allen Janet M , Hartnell Sara , Wilinska Malgorzata E , Ruan Yue , Sibayan Judy , Kollman Craig , Cheng Peiyao , Beck Roy W , Acerini Carlo L , Evans Mark L , Dunger David B , Elleri Daniela , Campbell Fiona , Bergenstal Richard M , Criego Amy , Shah Viral N , Leelarathna Lalantha , Hovork Roman , APCam Consortium Roman

To read the full abstract: Lancet. 2018 Oct 13; 392(10155): 13211329The appearance of new technologies and treatment modalities are changing the fate of patients with diabetes. While until recently the global epidemic of type 1 diabetes (T1D) has been largely neglected (1), much data are being published on the impact of new technologies on metabolic control, quality of life and mic...

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ey0019.2-5 | Neonatal hypoglycaemia | ESPEYB19

2.5. PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

MA Shahrour , FM Lasorsa , V Porcelli , I Dweikat , MA Di Noia , M Gur , G Agostino , A Shaag , T Rinaldi , G Gasparre , F Guerra , A Castegna , S Todisco , B Abu-Libdeh , O Elpeleg , L Palmieri

J Clin Endocrinol Metab. 2021 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. PMID: 34971397.Brief Summary: This is a case report of a potentially new genetic disorder that causes hyperinsulinaemic hypoglycemia, protein sensitivity and high serum ammonia level (Hyperinsulinism/hyperammonemia syndrome (HI/HA) syndrome). Mutations in the solute the carrier family 25, member 36 (SLC25A36) may b...

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ey0016.7-2 | Basic Science | ESPEYB16

7.2. SIRT1 mediates obesity- and nutrient-dependent perturbation of pubertal timing by epigenetically controlling Kiss1 expression

MJ Vazquez , CA Toro , JM Castellano , F Ruiz-Pino , J Roa , D Beiroa , V Heras , I Velasco , C Dieguez , L Pinilla , F Gaytan , R Nogueiras , MA Bosch , OK Ronnekleiv , A Lomniczi , SR Ojeda , M Tena-Sempere

To read the full abstract: Nat Commun. 2018 Oct 10;9(1):4194.This study identifies Sirtuin 1 (SIRT1), a fuel-sensing deacetylase, as a molecule that restrains female puberty via epigenetic repression of the puberty-activating gene, Kiss1 in rats.The last few years have brought evidence regarding the epigenetic control of the onset of puberty. It is now cle...

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ey0015.11-7 | New Developments in Monogenic Obesity | ESPEYB15

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

K Clément , H Biebermann , IS Farooqi , L Van der Ploeg , B Wolters , C Poitou , L Puder , F Fiedorek , K Gottesdiener , G Kleinau , N Heyder , P Scheerer , U Blume-Peytavi , I Jahnke , S Sharma , J Mokrosinski , S Wiegand , A Müller , K Weiß , K Mai , J Spranger , A Grüters , O Blankenstein , H Krude , P Kühnen

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

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ey0017.3-11 | Clinical trials for thyroid disease | ESPEYB17

3.11. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

C Mircher , S Sacco , C Bouis , J Gallard , A Pichot , E Le Galloudec , Cieuta , I Marey , O Greiner-Mahler , N Dorison , A Gambarini , S Stora , S Durand , M Polak , A Baruchel , E Schlumberger , J Dewailly , A Azar-Kolakez , RM Gueant-Rodriguez , JL Gueant , D Borderie , D Bonnefont-Rousselot , E Blondiaux , A Ravel , FG Sturtz

To read the full abstract: Genet Med. 2020;22:4452.This single center, randomized, double-blind, placebo-controlled phase 3 study investigated the effects of levothyroxine, folic acid, or both in combination over 12 months on global development in 143 infants with Down syndrome (DS). Over the last decades, treatment of DS associated co-morbidities has improved their life-expectancy. However, a therapy to improve mental development is still...

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ey0019.3-3 | Thyroid hormone action | ESPEYB19

3.3. Extended absorption of liothyronine from poly-zinc-liothyronine: results from a phase 1, double-blind, randomized, and controlled study in humans

AM Dumitrescu , EC Hanlon , M Arosemena , O Duchon , M Ettleson , M Giurcanu , AC Bianco

Thyroid. 2022 Feb;32(2):196-205. doi: 10.1089/thy.2021.0304. Epub 2021 Dec 31. PMID: 34641706Brief Summary: This phase 1, double-blind, randomized, single-dose, placebo-controlled, crossover study compared pharmacokinetics, pharmacodynamics, incidence of adverse events, and sleep pattern between the routinely used L-triiodothyronine (LT3) and a newly developed metal-coordinated form of LT3 (pol...

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ESPE Yearbook of Paediatric Endocrinology

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

8.3. Frequency and incidence of Carney complex manifestations: A prospective multicenter study with a three-year follow-up

11.9. Chronic mirabegron treatment increases human brown fat, HDL cholesterol, and insulin sensitivity

4.6. rhIGF-1/rhIGFBP-3 in preterm Infants: A phase 2 randomized controlled trial

10.2. Closed-loop insulin delivery in suboptimally controlled type 1 diabetes: a multicentre, 12-week randomised trial

2.5. PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

7.2. SIRT1 mediates obesity- and nutrient-dependent perturbation of pubertal timing by epigenetically controlling Kiss1 expression

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

3.11. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

3.3. Extended absorption of liothyronine from poly-zinc-liothyronine: results from a phase 1, double-blind, randomized, and controlled study in humans

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