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ey0016.13-7 | Endocrinology: Newborn Screening | ESPEYB16

13.7. A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

L Gong , X Gao , N Yang , J Zhao , H Yang , Y Kong

J Pediatr Endocrinol Metab 2019; 32(3): 253258. DOI: 10.1515/jpem-2018-0342• 44,360 neonates were screened for CAH as part of a pilot screening programme in Beijing.• In this prospective study, a CAH incidence of 1:7393 was found, and the most common 21 OHase mutation was c.293-13C/A>G.The authors describe the results of a ...

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ey0016.7-1 | Basic Science | ESPEYB16

7.1. PACAP neurons in the ventral premammillary nucleus regulate reproductive function in the female mouse

RA Ross , S Leon , JC Madara , D Schafer , C Fergani , CA Maguire , AM Verstegen , E Brengle , D Kong , AE Herbison , UB Kaiser , BB Lowell , VM Navarro

To read the full abstract: Elife. 2018 Jun 15;7. pii: e35960.Using transgenic mice, this team discover a new role for Pituitary adenylate cyclase activating polypeptide (PACAP) in female puberty and reproduction. This neuropeptide relays nutritional state information in the hypothalamus to regulate gonadotropin-releasing hormone release.Metabolic cues play...

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ey0015.14-15 | Nurtured by our parent’s genes | ESPEYB15

14.15 The nature of nurture: Effects of parental genotypes

A Kong , G Thorleifsson , ML Frigge , BJ Vilhjalmsson , AI Young , TE Thorgeirsson , S Benonisdottir , A Oddsson , BV Halldorsson , G Masson , DF Gudbjartsson , A Helgason , G Bjornsdottir , U Thorsteinsdottir , K Stefansson

To read the full abstract: Science 2018;359:424-428This ground-breaking study shows that your genetic make-up may influence your appearance, behaviour and health risks, not only by acting directly on your biology, but also indirectly, through the effects on your parents and how they cared and “nurtured” you. Such parental effects are obvious for very early life traits, su...

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ey0019.7-5 | Clinical Guidance | ESPEYB19

7.5. Analysis of early-life growth and age at pubertal onset in US children

IM Aris , W Perng , D Dabelea , JM Ganiban , C Liu , K Marceau , OC Robertson , CW Hockett , NL Mihalopoulos , X Kong , MM Herting , TM O'Shea , ET Jensen , MF Hivert , E Oken

Program Collaborators for Environmental Influences on Child Health OutcomesJAMA Netw Open. 2022 Feb 1;5(2):e2146873. doi: 10.1001/jamanetworkopen.2021.46873. PMID: 35119461https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2788643/Brief Summary: This study describes the correlation between...

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ESPE Yearbook of Paediatric Endocrinology

13.7. A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

7.1. PACAP neurons in the ventral premammillary nucleus regulate reproductive function in the female mouse

14.15 The nature of nurture: Effects of parental genotypes

7.5. Analysis of early-life growth and age at pubertal onset in US children

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