Update on the Genetics of Hypopituitarism

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

1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

LC Gregory , CB Ferreira , SK Young-Baird , HJ Williams , M Harakalova , G van Haaften , SA Rahman , C Gaston-Massuet , D Kelberman , Sgene GO , W Qasim , SA Camper , TE Dever , P Shah , ICAF Robinson , MT Dattani

To read the full abstract: EBioMedicine. 2019 Apr;42:470480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. PMID: 30878599.Is everyone familiar with the MEHMO syndrome (OMIM #300148)? MEHMO is an acronym for mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Previous studies show that patients with MEHMO carrying hemizygous se...

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ey0017.1-2 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.2. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis

LC Gregory , P Shah , JRF Sanner , M Arancibia , J Hurst , WD Jones , H Spoudeas , P Le Quesne Stabej , HJ Williams , LA Ocaka , C Loureiro , A Martinez-Aguayo , MT Dattani

To read the full abstract: J Clin Endocrinol Metab. 2019 Dec 1;104(12):57375750. doi: 10.1210/jc.2019-00631. PMID: 31504653.This paper describes two genes and three syndromes that clinicians would probably like to know when treating patients with a syndromic form of panhypopituitarism. Heterozygous mutation in a maternally imprinted gene, MAGEL2, was described in four patients...

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ey0017.1-3 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism

Tahoun Mona , Chandler Jennifer C , Ashton Emma , Haston Scott , Hannan Athia , Kim Ji Soo , D’Arco Felipe , Bockenhauer D , Anderson G , Lin Meei-Hua , Marzouk Salah , Saied Marwa H , Miner Jeffrey H , Dattani Mehul T , Waters Aoife M

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain withou...

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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...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2020

1. Pituitary and Neuroendocrinology

1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

1.2. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis

1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism

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

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