ISSN 1662-4009 (online)

ey0019.1-13 | Clinical Papers | ESPEYB19

1.13. Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline.

M Cerbone , J Visser , C Bulwer , A Ederies , K Vallabhaneni , S Ball , I Kamaly-Asl , A Grossman , H Gleeson , M Korbonits , V Nanduri , V Tziaferi , T Jacques , HA Spoudeas

Lancet Child Adolesc Health. 2021 Sep;5(9):662-676. doi: 10.1016/S2352-4642(21)00088-2. Epub 2021 Jun 30; PMID: 34214482.Brief Summary: This comprehensive guideline defines the role of cerebrospinal fluid tumor markers, whole-body imaging, and the indications, timing and risks of stalk biopsy, as well as criteria for discharge in children and young people with idiopathic pituitary stalk...

ey0018.1-15 | Clinical/Translational | ESPEYB18

1.15. Clinical outcomes and complications of pituitary blastoma

APY Liu , MM Kelsey , N Sabbaghian , SH Park , CL Deal , AJ Esbenshade , O Ploner , A Peet , H Traunecker , YHE Ahmed , M Zacharin , A Tiulpakov , AM Lapshina , AW Walter , P Dutta , A Rai , M Korbonits , L de Kock , KE Nichols , WD Foulkes , JR Priest

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...

ey0017.8-17 | Food for Thought | ESPEYB17

8.17. Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency

R Pofi , A Prete , V Thornton-Jones , J Bryce , SR Ali , Ahmed S Faisal , A Balsamo , F Baronio , A Cannuccia , A Guven , T Guran , F Darendeliler , C Higham , W Bonfig , L de Vries , TASS Bachega , MC Miranda , BB Mendonca , V Iotova , M Korbonits , NP Krone , R Krone , A Lenzi , W Arlt , RJ Ross , AM Isidori , JW Tomlinson

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(1): dgz055. PMID: 31613957.Mineralocorticoid (MC) replacement therapy along with glucocorticoid (GC) replacement is crucial to avoid life-threating adrenal crises in Addison´s disease (AD) and in classical CAH (1–3). MC is administered with the aim of achieving plasma renin concentration (PRC) within the upper limit of ...

ey0021.7-5 | Clinical Guidance and Studies | ESPEYB21

7.5. Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

APM Canton , FR Tinano , L Guasti , LR Montenegro , F Ryan , D Shears , ME de Melo , LG Gomes , MP Piana , R Brauner , R Espino-Aguilar , A Escribano-Munoz , A Paganoni , JE Read , M Korbonits , CE Seraphim , SS Costa , AC Krepischi , AAL Jorge , A David , LR Kaisinger , KK Ong , JRB Perry , AP Abreu , UB Kaiser , J Argente , BB Mendonca , VN Brito , SR Howard , AC Latronico

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...