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1.7. Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders

Gregory L.C. , Cionna C. , Cerbone M. , Dattani M. T.

Brief Summary: This study provides an in-depth exploration of the genetic underpinnings and clinical phenotypes associated with congenital hypopituitarism (CH) and related disorders. The authors analyse a large cohort (1765 patients) with or at risk of CH from 1563 unrelated families by Sanger, whole exome (WES) or whole genome sequencing (WGS). Genetic variants were identified in 10% of the CH cohort.CH is characterized by the insufficient pro...

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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...

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ESPE Yearbook of Paediatric Endocrinology

1.7. Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders

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

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