Background: Thickening of the Pituitary Stalk (TPS) and/or Central Diabetes Insipidus (CDI) can occour in isolation or synchronously/metachronously in the same patient. Due to their rarity and wide spectrum of underlying aetiologies they represent a diagnostic and management conundrum.
Aim: To develop a high-quality national multidisciplinary guideline for the assessment and management of children and young people (CYP) before their 19th birthday with idiopathic TPS (iTPS) and/or idiopathic CDI (iCDI), where the aetiology is not apparent at presentation.
Methods: The interdisciplinary guideline development group (GDG) identified the objectives and 64 clinical questions which needed to be addressed. These were reviewed by guideline stakeholders and used to direct a systematic literature search (January 1990March 2017). Five hundred and eighty three articles were appraised using the GRADE system. Where there was sufficient evidence, the GDG made a guideline recommendation. Where high quality evidence was lacking, the GDG drafted recommendations based on their expert opinion and reviewed these using two rounds of Delphi consensus with 30 international experts. This was a joint endocrine and oncology society (BSPED/CCLG), multidisciplinary, national endeavour, done to AGREE II methodology, produced by CCLG and endorsed by BSPED and RCPCH.
Results: High quality evidence was lacking for the majority of the clinical questions. What constitutes a TPS was not consistently defined across studies. The GDG group recommended to consider that a pituitary stalk might be pathologically thickened and require further investigations and surveillance if there is uniform or focal thickening > 3 mm at the pituitary insertion and/or > 4 mm at the level of optic chiam. In 11 case series (684 children) the commonest individual causes of TPS/CDI were Langerhans cell hystiocytosis (16%), germ cell tumours (13%) and craniopharingiomas (12%). A range of congenital defects accounted for 19% of cases. Infectious diseases (2%), trauma (1%) and inflammatory/autoimmune conditions (1%) were rare. In 29% of the cases no etiology is identified. Causes of pituitary stalk lesions in adults, such as metastatic tumours and neurosarcoidosis, are virtually absent in children. A decision-making flowchart has been developed and will accompany the guideline.
Conclusion: The likely aetiology of iTPS and iCDI in children differs from that in adults and justifies the development of age appropriate guidelines to inform best practice nationally. This will form the basis for future audits of practice and outcomes and is intended to improve the quality of care of CYP with iTPS and iCDI.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology