ISSN 1662-4009 (online)

ey0021.7-3 | Clinical Guidance and Studies | ESPEYB21

7.3. Sex-independent timing of the onset of central puberty revealed by nocturnal luteinizing hormone concentrations

A Demir , M Hero , A Juul , KM Main

Brief Summary: this longitudinal study found no statistical difference between boys and girls regarding the timing of increase in nocturnal luteinizing hormone concentrations.Puberty results from a gradual increase in GnRH secretion, that can be monitored by urinary gonadotropin measurements. Timing of normal puberty, initially described by Marshal and Tanner, is characterized by an important individual variability in humans1,2. The difference...

ey0019.4-6 | Important for clinical practice | ESPEYB19

4.6. Serum testosterone and oestradiol predict the growth response during puberty promoting treatment

H Huttunen , T Varimo , H Huopio , R Voutilainen , S Tenhola , PJ Miettinen , T Raivio , M Hero

Clinical Endocrinology. 2022; 96:220–226. PMID: 34596269Brief Summary: This randomized controlled trial evaluated the effects of testosterone and aromatase inhibitor treatment on anthropometric measures, and their correlation with estradiol and testosterone serum levels in boys with constitutional delay of growth and puberty (CDGP), to elucidate the respective roles of the two sex steroid hormones on growth during puberty. The results sugge...

ey0017.7-1 | Clinical Guidance | ESPEYB17

7.1. Anti-Mullerian hormone and letrozole levels in boys with constitutional delay of growth and puberty treated with letrozole or testosterone

E Kohva , T Varimo , H Huopio , S Tenhola , R Voutilainen , J Toppari , PJ Miettinen , K Vaaralahti , J Viinamaki , JT Backman , M Hero , T Raivio

To read the full abstract: Human Reproduction (Oxford, England) vol. 35, 2 (2020): 257–264. doi: https://academic.oup.com/humrep/article/35/2/257/5709207. https://pubmed.ncbi.nlm.nih.gov/31958337/This randomized controlled trial compares treatment with peroral letrozole or intramuscular low-dose testosterone in ...

ey0017.1-4 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.4. Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism

J Hietamaki , LC Gregory , S Ayoub , AP Iivonen , K Vaaralahti , X Liu , N Brandstack , AJ Buckton , T Laine , J Kansakoski , M Hero , PJ Miettinen , M Varjosalo , E Wakeling , MT Dattani , T Raivio

To read the full abstract: J Clin Endocrinol Metab. 2020 Feb 15. pii: dgaa078. doi: 10.1210/clinem/dgaa078. PMID: 32060556.Just another gene implicated in hypopituitarism? Yes, but it is a newish cilopathy gene in the hedgehog pathway. Hedgehog family of polypeptides (Sonic (Shh), Indian (Ihh) and desert (Dhh) hedgehog) are signaling molecules that are needed for many cellular events and pl...

ey0016.7-15 | Treatment | ESPEYB16

7.15. Letrozole versus testosterone for promotion of endogenous puberty in boys with constitutional delay of growth and puberty: a randomised controlled phase 3 trial

T Varimo , H Huopio , L Kariola , S Tenhola , R Voutilainen , J Toppari , S Toiviainen-Salo , E Hamalainen , MA Pulkkinen , M Laaperi , A Tarkkanen , K Vaaralahti , PJ Miettinen , M Hero , T Raivio

To read the full abstract: Lancet Child Adolesc Health. 2019 Feb;3(2):109–120This randomised, controlled, open-label trial at four paediatric centres in Finland evaluates aromatase inhibition with letrozole to induce puberty in boys with constitutional delay of growth and puberty.Treatment of delayed puberty aims to promote pubertal development ...

ey0021.8-13 | New Hope | ESPEYB21

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

V Oikonomou , G Smith , GM Constantine , MM Schmitt , EMN Ferre , JC Alejo , D Riley , D Kumar , Dias L Dos Santos , J Pechacek , Y Hadjiyannis , T Webb , BA Seifert , R Ghosh , M Walkiewicz , D Martin , M Besnard , BD Snarr , S Deljookorani , CR Lee , T DiMaggio , P Barber , LB Rosen , A Cheng , A Rastegar , AA de Jesus , J Stoddard , HS Kuehn , TJ Break , HH Kong , L Castelo-Soccio , B Colton , BM Warner , DE Kleiner , MM Quezado , JL Davis , KP Fennelly , KN Olivier , SD Rosenzweig , AF Suffredini , MS Anderson , M Swidergall , C Guillonneau , LD Notarangelo , R Goldbach-Mansky , O Neth , MT Monserrat-Garcia , J Valverde-Fernandez , JM Lucena , AL Gomez-Gila , A Garcia Rojas , MRJ Seppanen , J Lohi , M Hero , S Laakso , P Klemetti , V Lundberg , O Ekwall , P Olbrich , KK Winer , B Afzali , NM Moutsopoulos , SM Holland , T Heller , S Pittaluga , MS Lionakis

Brief Summary: This study suggests that excessive interferon-γ–mediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γ–mediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...