ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

ey0019.1-10 | Clinical Papers | ESPEYB19

1.10. Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

EB Trarbach , G Trivellin , IPP Grande , FHG Duarte , AAL Jorge , FBP do Nascimento , HM Garmes , M Nery , BB Mendonca , CA Stratakis , MD Bronstein , RS Jallad

Pituitary. 2021;24(2):252-261. doi: 10.1007/s11102-020-01105-4. PMID: 33156432.Brief Summary: Pituitary gigantism is a rare disease, which can be syndromic, as in McCune-Albright syndrome, Carney complex, MEN1 and MEN4, and the newly described “three P association” (paraganglioma, pheochromocytoma and pituitary adenoma) (1), or non-syndromic caused by mutations ...

ey0019.1-11 | Clinical Papers | ESPEYB19

1.11. Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

M Franke , AF Daly , L Palmeira , A Tirosh , A Stigliano , E Trifan , FR Faucz , D Abboud , P Petrossians , JJ Tena , E Vitali , AG Lania , JL Gomez-Skarmeta , A Beckers , CA Stratakis , G Trivellin

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...

ey0019.1-12 | Clinical Papers | ESPEYB19

1.12. Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects

SB Kaygusuz , Ates E Arslan , ML Vignola , B Volkan , BB Geckinli , S Turan , A Bereket , C Gaston-Massuet , T Guran

J Clin Endocrinol Metab. 2021, 106(10):e4142-e4154. doi: 10.1210/clinem/dgab352. PMID: 33999151.Brief Summary: The authors show that patients with hypopituitarism and FOXA2 gene defects also need screening for dysfunction of the pancreas.The Forkhead box A2 transcription factor (FOXA2) is important for normal development of the central nervous system, i...

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...

ey0019.1-14 | Clinical Papers | ESPEYB19

1.14. The necessity of magnetic resonance imaging in the evaluation of pediatric growth hormone deficiency: Lessons from a large academic center

L Mamilly , AL Pyle-Eilola , M Chaudhari , RK Henry

Growth Horm IGF Res. 2021;60-61:101427. doi: 10.1016/j.ghir.2021.101427. PMID: 34592640.Brief Summary: This retrospective chart review describes abnormalities on Magnetic resonance imaging (MRI), according to severity of growth hormone deficiency (GHD) in children. MRI of the pituitary gland is recommended following the diagnosis of GHD. In prior studies, provocative...