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15.7. A placebo-controlled trial of subcutaneous semaglutide in nonalcoholic steatohepatitis

Newsome Philip N , Buchholtz Kristine , Cusi Kenneth , Linder Martin , Okanoue Takeshi , Ratziu Vlad , Sanyal Arun J , Sejling Anne-Sophie , Harrison Stephen A

N Engl J Med 2021; 384:11131124. DOI: 10.1056/NEJMoa2028395 https://www.nejm.org/doi/full/10.1056/NEJMoa2028395The authors report a 72-week, double-blind placebo-controlled trial in 320 adult patients with biopsy-confirmed nonalcoholic steatohepatitis (NASH) and liver fibrosis (stage F1, F2, or F3). Patients were randomly assig...

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ey0020.3-17 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.17. Nutrient-regulated dynamics of chondroprogenitors in the postnatal murine growth plate

T Oichi , J Kodama , K Wilson , H Tian , Y Imamura Kawasawa , Y Usami , Y Oshima , T Saito , S Tanaka , M Iwamoto , S Otsuru , M Enomoto-Iwamoto

In Brief: The authors use cell-tracing of Axin2-positive chondroprogenitor cells in the resting zone during and after food restriction to demonstrate that nutrient availability influences the balance between accumulation and differentiation of resting zone chondrocytes and that this is influenced by Igf-1.Commentary: Catch-up growth is the rapid growth that occurs after growth-inhibiting conditions have been cured or removed. The molecular mechanism for ...

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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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ey0015.14-6 | We are roundheads | ESPEYB15

14.6 The evolution of modern human brain shape

S Neubauer , J-J Hublin , P Gunz

To read the full abstract: Science Advances 2018;4:eaao5961Present-day humans have globular brains and globular endocasts with steep frontal, bulging parietal, and enlarged, rounded cerebellar areas with small and retracted faces. In contrast, Neandertals and other archaic Homo individuals have anterior-posteriorly elongated flat endocasts. These differences are well-visualized...

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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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ey0020.6-5 | Important for Clinical Practice | ESPEYB20

6.5. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

M Engelen , WJC van Ballegoij , EJ Mallack , KP Van Haren , W Kohler , E Salsano , ASP van Trotsenburg , F Mochel , C Sevin , MO Regelmann , NA Tritos , A Halper , RH Lachmann , J Davison , GV Raymond , TC Lund , PJ Orchard , JS Kuehl , CA Lindemans , P Caruso , BR Turk , AB Moser , FM Vaz , S Ferdinandusse , S Kemp , A Fatemi , FS Eichler , IC Huffnagel

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...

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ey0019.9-14 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.14. Effect of Genetic Variation in CYP450 on gonadal impairment in a European cohort of female childhood cancer survivors, based on a candidate gene approach: results from the PanCareLIFE study

der Perk MEM van , L Broer , Y Yasui , LL Robison , MM Hudson , JSE Laven , der Pal HJ van , WJE Tissing , B Versluys , D Bresters , GJL Kaspers , Vries ACH de , CB Lambalk , A Overbeek , JJ Loonen , CCM Beerendonk , J Byrne , C Berger , E Clemens , U Dirksen , Winther J Falck , SD Fossa , D Grabow , M Muraca , M Kaiser , T Kepak , J Kruseova , D Modan-Moses , C Spix , O Zolk , P Kaatsch , JH Krijthe , LCM Kremer , RJ Brooke , JL Baedke , RHN van Schaik , JN van den Anker , AG Uitterlinden , AME Bos , FE van Leeuwen , E van Dulmen-den Broeder , ALF van der Kooi , MM van den Heuvel-Eibrink

On Behalf Of The PanCareLIFE Consortium. m.e.m.vanderperk@prinsesmaximacentrum.nl Cancers (Basel). 2021; 13: 4598. PMID: 34572825.Brief Summary: This cohort study of female childhood cancer survivors (CCS) identified associations between specific nucleotide polymorphisms (SNP) in cytochrome P450 (CYP450) enzymes, which metabolize alkylating agents (AA), and variability in AA-induced o...

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ey0017.9-3 | Fertility-Related Issues | ESPEYB17

9.3. The influence of different intensity of treatment on hormonal markers of gonadal function in acute lymphoblastic leukemia survivors

M Krawczuk-Rybak , M Płonowski , E Leszczyńska , E Latoch , M Sawicka-Żukowska , K Muszyńska-Rosłan , J Skalska-Sadowska , J Wachowiak , D Sga-Pondel , B Kazanowska , A Chybicka , T Stachowicz-Stencel , J Stefanowicz , I Malinowska , M Matysiak , A Kotan , M Wysocki , A Pobudejska-Piena¸żek , T Szczepański , B Przybyszewski , W Badowska , D Szymańska-Miller , JR Kowalczyk , E Kamieńska , T Urasiński , A Wawrzeńczyk , B Żelazowska-Rutkowska , B Cylwik

To read the full abstract: Hematol Oncol. 2019 Dec;37(5):609616. mar26@mp.plAcute lymphoblastic leukaemia (ALL) is the most common childhood neoplasia with an actual survival rate >80%. ALL treatment has changed considerably during last 30 years; radiotherapy with 24 Gy to the central nervous system (CNS) has been eliminated or reduced to lower doses (12 or 18 Gy) and chemotherapy regimens are now tailo...

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ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...

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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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ESPE Yearbook of Paediatric Endocrinology

15.7. A placebo-controlled trial of subcutaneous semaglutide in nonalcoholic steatohepatitis

3.17. Nutrient-regulated dynamics of chondroprogenitors in the postnatal murine growth plate

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

14.6 The evolution of modern human brain shape

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

6.5. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

9.14. Effect of Genetic Variation in CYP450 on gonadal impairment in a European cohort of female childhood cancer survivors, based on a candidate gene approach: results from the PanCareLIFE study

9.3. The influence of different intensity of treatment on hormonal markers of gonadal function in acute lymphoblastic leukemia survivors

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

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

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