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15.5. Iatrogenic Alzheimer's disease in recipients of cadaveric pituitary-derived growth hormone

G Banerjee , SF Farmer , H Hyare , Z Jaunmuktane , S Mead , NS Ryan , JM Schott , DJ Werring , P Rudge , J. Collinge

In Brief: These authors investigated patients referred to the UK National Prion Clinic (NPC) for suspected prion diseases. They identified 8 individuals with a history of receiving treatment with cadaveric pituitary-derived growth hormone (c-hGH) and referred to, or reviewed by, the NPC between 2017 and 2022. None had a diagnosis of iatrogenic CreutzfeldtJakob disease (CJD) (on the basis of clinical presentation, neuroimaging and biomarkers and, in two cases, by postmort...

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ey0019.4-11 | New Paradigms | ESPEYB19

4.11. Fine-tuning cardiac insulin-like growth factor 1 receptor signaling to promote health and longevity

M Abdellatif , V Trummer-Herbst , AM Heberle , A Humnig , T Pendl , S Durand , G Cerrato , SJ Hofer , M Islam , J Voglhuber , Pittol JM Ramos , O Kepp , G Hoefler , A Schmidt , PP Rainer , D Scherr , Lewinski D Von , E Bisping , JR McMullen , A Diwan , T Eisenberg , F Madeo , K Thedieck , G Kroemer , S Sedej

Circulation, 2022: Jun 21;145(25):1853-1866 PMID: 35616058Brief Summary: This translational study evaluated cardiac health and lifespan in two cardiomyocyte-specific transgenic mice with either enhanced or reduced IGF-1 signaling and in human cardiac biopsies from failing and nonfailing hearts. Increased IGF1R expression was related to better cardiac performance in young mice but faster decline of cardiac function with aging. Conversely reduced ...

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ey0019.9-7 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.7. Fertility status among long-term childhood acute lymphoblastic leukaemia survivors enrolled between 1971 and 1998 in EORTC CLG studies: results of the 58 late adverse effects study

Rossi G. , Kicinski M. , Suciu S. , Vandecruys E. , Plat G. , Uyttebroeck A. , Paillard C. , Barbati M. , Dresse M.F. , Simon P. , Minckes O. , Pluchart C. , Ferster A. , Freycon C. , Millot F. , van der Werfften Bosch J. , Chantrain C. , Paulus R. , de Rojas T. , de Schaetzen G. , Rohrlich P. , Benoit Y. , Piette C.

On behalf of the European Organisation for Research and Treatment of Cancer (EORTC) Childrens Leukemia Group (CLG)caroline.piette@chuliege.be Human Reproduction, 2022; 37: 4453. PMID: 34788455.Brief Summary: This case-control study evaluated fertility status in childhood acute lymphoblastic leukaemia (ALL) survivors enrolled in the European Organisation for Research and Treatment of Ca...

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ey0020.7-5 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.5. Ovarian function and spontaneous pregnancy after hematopoietic stem cell transplantation for leukemia before puberty: An L.E.A. cohort study

M Chabut , P Schneider , B Courbiere , P Saultier , Y Bertrand , MD Tabone , C Pochon , S Ducassou , C Paillard , V Gandemer , J Kanold , JH Dalle , M Poiree , G Plat , S Thouvenin , D Plantaz , N Sirvent , S Weinhard , J Berbis , A Baruchel , G Leverger , Z Hamidou , P Auquier , G Michel

Brief summary: This French retrospective observational study evaluated ovarian function, premature ovarian insufficiency (POI) and spontaneous pregnancy in 178 women who had undergone hematopoietic stem cell transplantation (HSCT) for leukemia before puberty; 116/178 had received total body irradiation (TBI) and 62 had received a busulfan-based conditioning regimen.Sixty percent of women needed pubertal induction; only 40% had spontaneous menarche and ha...

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ey0018.2-9 | Neonatal diabetes mellitus | ESPEYB18

2.9. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

R Bonfanti , D Iafusco , I Rabbone , G Diedenhofen , C Bizzarri , PI Patera , P Reinstadler , F Costantino , V Calcaterra , L Iughetti , S Savastio , A Favia , F Cardella , D Lo Presti , Y Girtler , S Rabbiosi , G D'Annunzio , A Zanfardino , A Piscopo , F Casaburo , L Pintomalli , L Russo , V Grasso , N Minuto , M Mucciolo , A Novelli , A Marucci , B Piccini , S Toni , F Silvestri , P Carrera , A Rigamonti , G Frontino , M Trada , D Tinti , M Delvecchio , N Rapini , R Schiaffini , C Mammi , F Barbetti

Eur J Endocrinol. 2021 Apr;184(4):575585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...

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ey0021.13-9 | Endocrinology | ESPEYB21

13.9. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

Z Siklar , E Camtosun , S Bolu , M Yildiz , A Akinci , F Bas , İ Dundar , A Bestas , E Unal , P Kocaay , T Guran , G Buyukyilmaz , AK Ugurlu , BG Tosun , I Turan , E Kurnaz , B Yuksel , D Turkkahraman , A Cayir , G Celmeli , EN Gonc , BS Eklioğlu , S Cetinkaya , SK Yilmaz , ME Atabek , M Buyukinan , E Arslan , E Mengen , EDP Cakir , M Karaoglan , N Hatipoglu , Z Orbak , A Ucar , N Akyurek , ED Akbas , E Isik , SB Kaygusuz , ZK Sutcu , G Seymen , M Berberoglu

Brief Summary: This retrospective cohort study analyzed data from 97 cases of 17α hydroxylase/17,20 lyase deficiency identified in Turkey. It focused on diagnostic testing, laboratory characteristics, long-term outcomes and therapeutic management.This nationwide study focuses on 17α-Hydroxylase/17,20-Lyase deficiency (17OHD), a rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. The research aims to evalua...

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ey0018.1-11 | Genetics | ESPEYB18

1.11. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

O David , M Eskin-Schwartz , G Ling , V Dolgin , E Kristal , E Benkowitz , L Osyntsov , L Gradstein , OS Birk , N Loewenthal , B Yerushalmi

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...

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ey0018.2-7 | Neonatal hypoglycaemia | ESPEYB18

2.7. Possible new strategies for the treatment of congenital hyperinsulinism

J Sikimic , T Hoffmeister , A Gresch , J Kaiser , W Barthlen , C Wolke , I Wieland , U Lendeckel , P Krippeit-Drews , M Dufer , G Drews

Front Endocrinol (Lausanne). 2020 Oct 27;11:545638. doi: 10.3389/fendo.2020.545638. PMID: 33193079.Using human islets from CHI patients and islets from ABCC8 (SUR1) knockout mice, the authors tested several novel compounds to inhibit insulin over-secretion. These novel compounds targeted KATP channels as well as KATP indepe...

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ey0018.2-12 | Neonatal diabetes mellitus | ESPEYB18

2.12. Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

I Akerman , MA Maestro , E De Franco , V Grau , S Flanagan , J Garcia-Hurtado , G Mittler , P Ravassard , L Piemonti , S Ellard , AT Hattersley , J Ferrer

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...

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ey0018.7-6 | Clinical Guidance | ESPEYB18

7.6. GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty

H Mosbah , C Bouvattier , L Maione , S Trabado , G De Filippo , A Cartes , A Donzeau , P Chanson , S Brailly-Tabard , AA Dwyer , R Coutant , J Young

Hum Reprod. 2020 Oct 1;35(10):23122322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

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ESPE Yearbook of Paediatric Endocrinology

15.5. Iatrogenic Alzheimer's disease in recipients of cadaveric pituitary-derived growth hormone

4.11. Fine-tuning cardiac insulin-like growth factor 1 receptor signaling to promote health and longevity

9.7. Fertility status among long-term childhood acute lymphoblastic leukaemia survivors enrolled between 1971 and 1998 in EORTC CLG studies: results of the 58 late adverse effects study

7.5. Ovarian function and spontaneous pregnancy after hematopoietic stem cell transplantation for leukemia before puberty: An L.E.A. cohort study

2.9. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

13.9. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

1.11. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

2.7. Possible new strategies for the treatment of congenital hyperinsulinism

2.12. Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

7.6. GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty

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