ISSN 1662-4009 (online)

ey0019.3-7 | Congenital hypothyroidism | ESPEYB19

3.7. Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age

MC Vigone , R Ortolano , G Vincenzi , C Pozzi , M Ratti , V Assirelli , S Vissani , P Cavarzere , A Mussa , R Gastaldi , Mase R Di , M Salerno , ME Street , J Trombatore , G Weber , A Cassio

Eur J Endocrinol. 2021 Nov 30;186(1):45-52. doi: 10.1530/EJE-20-1444. PMID: 34714772Brief Summary: This retrospective multicenter study examined the biochemical and neurocognitive outcomes of n=254 patients with congenital hypothyroidism (CH) at age 3 years, treated with either LT4 drops (n=117) or LT4 tablets (n=137). Overall, neurocognitive outcome was not different between the two treatment gr...

ey0017.3-6 | Congenital hypothyroidism | ESPEYB17

3.6. Neonatal screening for congenital hypothyroidism: what can we learn from discordant twins?

E Medda , MC Vigone , A Cassio , F Calaciura , P Costa , G Weber , T de Filippis , G Gelmini , M Di Frenna , S Caiulo , R Ortolano , D Rotondi , M Bartolucci , R Gelsomino , S De Angelis , M Gabbianelli , L Persani , A Olivieri

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...

ey0017.6-12 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.12. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

ML Ljubicic , A Jorgensen , C Acerini , J Andrade , A Balsamo , S Bertelloni , M Cools , RT Cuccaro , F Darendeliler , CE Fluck , RP Grinspon , A Maciel-Guerra , T Guran , SE Hannema , AK Lucas-Herald , O Hiort , PM Holterhus , C Lichiardopol , LHJ Looijenga , R Ortolano , S Riedl , SF Ahmed , A Juul

To read the full abstract: J Clin Endocrinol Metab. 2019, Oct 1; 104: 4366–81. doi: https://www.ncbi.nlm.nih.gov/pubmed/31127831This retrospective observational study compared long-term health outcomes between 46,X/46,XY individuals diagnosed early in life due to genital anomalies (n =35) and those diagnosed later due other reasons (n =28). Data came from 16 clinic...