Inaugural lecture given by Prof. S.F. Ahmed on the acceptance of his position as professor of Internal Medicine at Leiden University on Monday April 3, 2023
Nordenstrom, A.; Ahmed, S.F.; Akker, E. van den; Blair, J.; Bonomi, M.; Brachet, C.; ... ; Dekkers, O.M. 2022
An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient representatives. The guideline was... Show moreAn Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient representatives. The guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology and the European Academy of Andrology. The aim was to create practice guidelines for clinical assessment and puberty induction in individuals with congenital pituitary or gonadal hormone deficiency. A systematic literature search was conducted, and the evidence was graded according to the Grading of Recommendations, Assessment, Development and Evaluation system. If the evidence was insufficient or lacking, then the conclusions were based on expert opinion. The guideline includes recommendations for puberty induction with oestrogen or testosterone. Publications on the induction of puberty with follicle-stimulation hormone and human chorionic gonadotrophin in hypogonadotropic hypogonadism are reviewed. Specific issues in individuals with Klinefelter syndrome or androgen insensitivity syndrome are considered. The expert panel recommends that pubertal induction or sex hormone replacement to sustain puberty should be cared for by a multidisciplinary team. Children with a known condition should be followed from the age of 8 years for girls and 9 years for boys. Puberty induction should be individualised but considered at 11 years in girls and 12 years in boys. Psychological aspects of puberty and fertility issues are especially important to address in individuals with sex development disorders or congenital pituitary deficiencies. The transition of these young adults highlights the importance of a multidisciplinary approach, to discuss both medical issues and social and psychological issues that arise in the context of these chronic conditions. Show less
Rare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are almost universally associated with long-term... Show moreRare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are almost universally associated with long-term morbidity. Understanding the aetiology of these conditions requires multicentre collaboration and expertise, most often across national boundaries, with the capacity for long-term follow-up. The EuRRECa (European Registries for Rare Endocrine Conditions) project (), funded by the EU Health Programme, aims to support the needs of the wider endocrine community by maximising the opportunity for collaboration between patients, health care professionals and researchers across Europe and beyond. At the heart of the EuRRECa collaboration is a Core Endocrine Registry that collects a core dataset for all rare endocrine conditions that are covered within Endo-ERN. The registry incorporates patient reported markers of clinical outcome and will signpost participants to high-quality, disease-specific registries. Furthermore, an electronic surveillance programme (e-REC) captures clinical activity and epidemiology for these rare conditions. EuRRECa receives guidance compliant with the highest ethical standards from Expert Working Groups that align with the Main Thematic Groups of Endo-ERN. Security, data quality and data governance are cornerstones of this platform. Clear policies that are acceptable to patients, researchers and industry for data governance coupled with widespread dissemination and knowledge exchange through closely affiliated stakeholders will ensure sustainability beyond the current lifetime of the project. This paper describes the infrastructure that has been developed, stakeholder involvement, the data fields that are captured within the registry and details on the process for using the platform. Show less
Mantovani, G.; Bastepe, M.; Monk, D.; Sanctis, L. de; Thiele, S.; Ahmed, S.F.; ... ; Linglart, A. 2020
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity,... Show morePatients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabetes, and skeletal issues with potentially severe limitation of mobility. PHP and related disorders are primarily clinical diagnoses. Given the variability of the clinical, radiological, and biochemical presentation, establishment of the molecular diagnosis is of critical importance for patients. It facilitates management, including prevention of complications, screening and treatment of endocrine deficits, supportive measures, and appropriate genetic counselling. Based on the first international consensus statement for these disorders, this article provides an updated and ready-to-use tool to help physicians and patients outlining relevant interventions and their timing. A life-long coordinated and multidisciplinary approach is recommended, starting as far as possible in early infancy and continuing throughout adulthood with an appropriate and timely transition from pediatric to adult care. Show less
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders... Show moreThis Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders. Show less
