ISSN 1662-4009 (online)

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 ...

ey0017.7-11 | Basic Science | ESPEYB17

7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

A Messina , K Pulli , S Santini , J Acierno , J Kansakoski , D Cassatella , C Xu , F Casoni , SA Malone , G Ternier , D Conte , Y Sidis , J Tommiska , K Vaaralahti , A Dwyer , Y Gothilf , GR Merlo , F Santoni , NJ Niederlander , P Giacobini , T Raivio , N Pitteloud

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...