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Preface

While this last year was undoubtedly dominated by COVID-19, it was another inspiring year (June 2020 to May 2021) for publications relating to Paediatric Endocrinology. Among other reports: – New treatments were described: vosoritide for achondroplasia; 6-monthly leuprolide acetate for precocious puberty; osilodrostat for Cushing’s disease; semaglutide for nonalcoholic steatohepatitis and also for severe obesity due to LEPR or POMC mutations; a new 20-kD...

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ey0018.1 | Yafei Wang, Johanna Hietamäki, Tero Varimo, Matti Hero, Päivi J. Miettinen, Taneli Raivio | ESPEYB18

1. Pituitary and Neuroendocrinology

Wang Yafei , Hietamaki Johanna , Varimo Tero , Hero Matti , Miettinen Paivi J , Raivio Taneli

PrefaceIn this first chapter of the Yearbook, we present recent advances in the development/ontogeny of the pituitary, genetics of hypopituitarism, clinical and translational aspects, and lastly we describe two papers on the relationship between pituitary function and viral disease. We hope that our selection of papers is both educational and interesting to all readers....

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ey0018.1-1 | A Comprehensive Review of Hypopituitarism | ESPEYB18

1.1. Insights into non-classic and emerging causes of hypopituitarism

F Prodam , M Caputo , C Mele , P Marzullo , G Aimaretti

Nat Rev Endocrinol. 2021 Feb;17(2):114129. doi: 10.1038/s41574-020-00437-2. PMID: 33247226.We highly recommend this comprehensive review by Prodam et al. to everyone as a starter to this chapter. How many of you knew that hypopituitarism in humans was first described just over 100 hundred years ago? The authors of this excellent review divide the causes of hypopituitarism...

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ey0018.1-2 | Development/Ontogeny | ESPEYB18

1.2. Single nucleus multi-omics regulatory landscape of the murine pituitary

F Ruf-Zamojski , Z Zhang , M Zamojski , GR Smith , N Mendelev , H Liu , G Nudelman , M Moriwaki , H Pincas , RG Castanon , VD Nair , N Seenarine , MAS Amper , X Zhou , L Ongaro , C Toufaily , G Schang , JR Nery , A Bartlett , A Aldridge , N Jain , GV Childs , OG Troyanskaya , JR Ecker , JL Turgeon , CK Welt , DJ Bernard , SC Sealfon

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...

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ey0018.1-3 | Development/Ontogeny | ESPEYB18

1.3. Lineage analysis reveals an endodermal contribution to the vertebrate pituitary

P Fabian , KC Tseng , J Smeeton , JJ Lancman , PDS Dong , R Cerny , JG Crump

Science. 2020 Oct 23;370(6515):463-467. doi: 10.1126/science.aba4767. PMID: 33093109These researchers used lineage tracing, combined time-lapse imaging with single cell RNA sequencing in zebrafish, and identified that endoderm actually also contributes to the formation of adenohypophysis primordium and resultant pituitary.The pituitary gland is considered to be forme...

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ey0018.1-4 | Development/Ontogeny | ESPEYB18

1.4. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors

ML Brinkmeier , H Bando , AC Camarano , S Fujio , K Yoshimoto , FS de Souza , SA Camper

J Clin Invest. 2020 Aug 3;130(8):45014515. doi: 10.1172/JCI136745. PMID: 32453714.This study used mouse models to investigate the role of LIM homeodomain transcription factor Isl1 in pituitary development. It reveals that Isl1 has multiple, critical roles in pituitary gland development. Pituitary-specific Isl1 deletion caused hypopituitarism with increased stem c...

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ey0018.1-5 | Development/Ontogeny | ESPEYB18

1.5. Cellular and molecular properties of neural progenitors in the developing mammalian hypothalamus

X Zhou , S Zhong , H Peng , J Liu , W Ding , L Sun , Q Ma , Z Liu , R Chen , Q Wu , X Wang

Nat Commun. 2020 Aug 13;11(1):4063. doi: 10.1038/s41467-020-17890-2. PMID: 32792525.These researchers proposed the heterogeneity of hypothalamic neural progenitor cells. Other than traditional hypothalamic radial glial (hRG) cells, which are predominantly located in the ventricular zone, there are additional basal progenitors in the mantle zone, which are named as hypothalamic mantle zo...

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ey0018.1-6 | Development/Ontogeny | ESPEYB18

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

C Huisman , YA Kim , S Jeon , B Shin , J Choi , SJ Lim , SM Youn , Y Park , K C M , S Kim , SK Lee , S Lee , JW Lee

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

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ey0018.1-7 | Development/Ontogeny | ESPEYB18

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

A Gualtieri , N Kyprianou , LC Gregory , ML Vignola , JG Nicholson , R Tan , SI Inoue , V Scagliotti , P Casado , J Blackburn , F Abollo-Jimenez , E Marinelli , REJ Besser , W Hogler , I Karen Temple , JH Davies , A Gagunashvili , ICAF Robinson , SA Camper , SW Davis , PR Cutillas , EF Gevers , Y Aoki , MT Dattani , C Gaston-Massuet

Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. PMID: 33795686.The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF.RASopathies encompass Noonan ...

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ey0018.1-8 | Genetics | ESPEYB18

1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

SA Vishnopolska , MF Mercogliano , MA Camilletti , AH Mortensen , D Braslavsky , A Keselman , I Bergada , F Olivieri , L Miranda , R Marino , P Ramirez , GN Perez , H Patino Mejia , M Ciaccio , MI Di Palma , A Belgorosky , A Marti Marcelo , JO Kitzman , SA Camper , MI Perez-Millan

J Clin Endocrinol Metab. 2021 Mar 17:dgab177. doi: 10.1210/clinem/dgab177. PMID: 33729509.Vishnopolska et al. conducted a comprehensive evaluation of 67 hypopituitarism candidate genes in 170 congenital hypopituitarism (CH) patients from Argentina by using small molecule molecular inversion probes followed by sequencing (smMIPS) panel. 57 patients had isolated growth hormone defici...

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ESPE Yearbook of Paediatric Endocrinology

Preface

1. Pituitary and Neuroendocrinology

1.1. Insights into non-classic and emerging causes of hypopituitarism

1.2. Single nucleus multi-omics regulatory landscape of the murine pituitary

1.3. Lineage analysis reveals an endodermal contribution to the vertebrate pituitary

1.4. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors

1.5. Cellular and molecular properties of neural progenitors in the developing mammalian hypothalamus

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

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