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1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A Schanzer , MT Achleitner , D Trumbach , L Hubert , A Munnich , B Ahlemeyer , MM AlAbdulrahim , PA Greif , S Vosberg , B Hummer , RG Feichtinger , JA Mayr , SB Wortmann , H Aichner , S Rudnik-Schoneborn , A Ruiz , E Gabau , JP Sanchez , S Ellard , T Homfray , KL Stals , W Wurst , BA Neubauer , T Acker , SK Bohlander , C Asensio , C Besmond , FS Alkuraya , MD AlSayed , A Hahn , A Weber

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...

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ey0019.7-10 | Basic Science | ESPEYB19

7.10. The cryptic gonadotropin-releasing hormone neuronal system of human basal ganglia

K Skrapits , M Sarvari , I Farkas , B Gocz , S Takacs , E Rumpler , V Vaczi , C Vastagh , G Racz , A Matolcsy , N Solymosi , S Poliska , B Toth , F Erdelyi , G Szabo , MD Culler , C Allet , L Cotellessa , V Prevot , P Giacobini , E Hrabovszky

Elife. 2021 Jun 15;10:e67714. doi: 10.7554/eLife.67714. PMID: 34128468https://elifesciences.org/articles/67714Brief Summary: This histological and transcriptomic study evaluates the presence and the potential role of extra-hypothalamic GnRH neurons in humans and identifies cholinergic GnRH-synthesizing cells in the human basal...

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ey0017.11-2 | New Genetic Findings | ESPEYB17

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

M Baron , J Maillet , M Huyvaert , A Dechaume , R Boutry , H Loiselle , E Durand , B Toussaint , E Vaillant , J Philippe , J Thomas , A Ghulam , S Franc , G Charpentier , JM Borys , C Levy-Marchal , M Tauber , R Scharfmann , J Weill , C Aubert , J Kerr-Conte , F Pattou , R Roussel , B Balkau , M Marre , M Boissel , M Derhourhi , S Gaget , M Canouil , P Froguel , A Bonnefond

To read the full abstract: Nature Medicine. 2019;25(11):17338. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

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ey0016.14-12 | (1) | ESPEYB16

14.12. Genome amplification and cellular senescence are hallmarks of human placenta development

P Velicky , G Meinhardt , K Plessl , S Vondra , T Weiss , P Haslinger , T Lendl , K Aumayr , M Mairhofer , X Zhu , B Schutz , RL Hannibal , R Lindau , B Weil , J Ernerudh , J Neesen , G Egger , M Mikula , C Rohrl , AE Urban , J Baker , M Knofler , J Pollheimer

To read the full abstract: PLoS Genet 2018;14:e1007698.These authors studied human placental and decidual tissues obtained from elective pregnancy terminations (612 weeks gestation). Placental extravillous trophoblasts (EVTs), the cells that rapidly invade the mothers endometrium, undergo an initial stage of genomewide amplification leadi...

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ey0016.15-1 | (1) | ESPEYB16

15.1. A Copeptin-based approach in the diagnosis of diabetes insipidus

W Fenske , J Refardt , I Chifu , I Schnyder , B Winzeler , J Drummond , A Jr. Ribeiro-Oliveira , T Drescher , S Bilz , DR Vogt , U Malzahn , M Kroiss , E Christ , C Henzen , S Fischli , A Tonjes , B Mueller , J Schopohl , J Flitsch , G Brabant , M Fassnacht , M Christ-Crain

To read the full abstract: N Engl J Med 2018;379:428439In this multi-centre cohort of 156 patients with hypotonic polyuria, direct measurement of hypertonic saline-stimulated plasma copeptin had much greater diagnostic accuracy than a standard water-deprivation test, as judged by the final reference diagnosis, which was determined on the basis of medical history, test result...

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ey0015.11-6 | New Developments in Monogenic Obesity | ESPEYB15

11.6 Evaluation of a melanocortin-4 receptor (MC4R) agonist (setmelanotide) in MC4R deficiency

TH Collet , B Dubern , J Mokrosinski , H Connors , JM Keogh , E Mendes de Oliveira , E Henning , C Poitou-Bernert , JM Oppert , P Tounian , F Marchelli , R Alili , J Le Beyec , D Pépin , JM Lacorte , A Gottesdiener , R Bounds , S Sharma , C Folster , S Henderson B O'Rahilly , E Stoner , K Gottesdiener , BL Panaro , RD Cone , K Clément , IS Farooqi , LHT Van der Ploeg

To read the full abstract: Mol Metab. 2017 Oct; 6(10): 1321–1329See comment on 11.7...

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ey0015.12-15 | New Genes | ESPEYB15

12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

Y-Y Zhang , Z-Y Fu , J Wei , W Qi , G Baituola , J Luo , Y-J Meng , S-Y Guo , H Yin , S-Y Jiang , Y-F Li , H-H Miao , Y Liu , Y Wang , B-L Li , Y-T Ma , B-L Song

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...

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ey0020.7-7 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.7. The uterine volume is dramatically decreased after hematopoietic stem cell transplantation during childhood regardless of the conditioning regimen

B Courbiere , B Drikes , A Grob , Z Hamidou , P Saultier , Y Bertrand , V Gandemer , D Plantaz , G Plat , M Poiree , S Ducassou , C Pochon , JH Dalle , S Thouvenin , C Paillard , J Kanold , A Sirvent , C Rousset-Jablonski , S Duros , A Gueniffey , C Cohade , S Boukaidi , S Frantz , M Agopiantz , C Poirot , A Genod , O Pirrello , AS Gremeau , S Bringer-Deutsch , P Auquier , G Michel

Brief summary: This French multicenter prospective study analyzed uterine volume by pelvic MRI in 88 women (age range 1840 years), who were survivors of childhood acute leukemia treated with hematopoietic stem cell transplantation (HSCT). They were compared to 88 healthy women matched for age and parity.Conditioning regimens before HSCT included alkylating agents for 34 women and total body irradiation (TBI) for 54 women. Scans were centralized and...

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ey0021.14-2 | Basic Biology and Molecular Mechanisms | ESPEYB21

14.2. Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

S Young , C Schiffer , A Wagner , J Patz , A Potapenko , L Herrmann , V Nordhoff , T Pock , C Krallmann , B Stallmeyer , A Ropke , M Kierzek , C Biagioni , T Wang , L Haalck , D Deuster , JN Hansen , D Wachten , B Risse , HM Behre , S Schlatt , S Kliesch , F Tuttelmann , C Brenker , T. Strunker

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...

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ey0021.13-12 | Endocrinology | ESPEYB21

13.12. High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

Y Ozer , A Anık , U Sayılı , U Tercan , R Deveci Sevim , S Guneş , Pirimoğlu M Buhur , S Elmaoğulları , I Dundar , D Okdemir , O Besci , A Jalilova , D Cicek , B Singin , ŞE Ulu , H Turan , S Albayrak , Sutcu Z Kocabey , BS Eklioğlu , E Eren , S Cetinkaya , Ş Savaş-Erdeve , I Esen , K Demir , Ş Darcan , N Hatipoğlu , M Parlak , F Dursun , Z Şıklar , M Berberoğlu , M Keskin , Z Orbak , B Tezel , E Yuruker , B Keskinkılıc , F Kara , E Erginoz , F Darendeliler , O Evliyaoğlu

Brief Summary: This retrospective, multicenter study examined patients who were diagnosed with congenital hypothyroidism (CH) through the newborn screening (NSP) program in Turkey. It assessed the prevalence of temporary congenital hypothyroidism (TCH), examined the causes of permanent congenital hypothyroidism (PCH), and identified laboratory and clinical indicators to distinguish TCH and PCH.Congenital hypothyroidism (CH), the most prevalent endocrine ...

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ESPE Yearbook of Paediatric Endocrinology

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

7.10. The cryptic gonadotropin-releasing hormone neuronal system of human basal ganglia

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

14.12. Genome amplification and cellular senescence are hallmarks of human placenta development

15.1. A Copeptin-based approach in the diagnosis of diabetes insipidus

11.6 Evaluation of a melanocortin-4 receptor (MC4R) agonist (setmelanotide) in MC4R deficiency

12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

7.7. The uterine volume is dramatically decreased after hematopoietic stem cell transplantation during childhood regardless of the conditioning regimen

14.2. Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

13.12. High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

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