Rare endocrine diseases of childhood are diseases that – according to the above definition – occur in less than one case per 2,000 children. Such rare diseases can occur from birth (eg congenital hypothyroidism, congenital pituitary insufficiency, pseudohypoparathyroidism, etc.), while rarer endocrine diseases of children with low frequency in the general population, ie, can occur in the general population. course of life such as pituitary insufficiency secondarily after e.g. brain tumor removal or skull irradiation etc. All these rare endocrine diseases require special knowledge and special targeted personalized treatment.
The Unit of Metabolism, Metabolism and Diabetes of the Pediatric Clinic of the National and Kapodistrian University of Athens, located at the “Agia Sofia” Children’s Hospital, consists of both Outpatient Clinics, where rare and non-endocrine and pediatric diseases are monitored. with rare endocrine diseases that are investigated in the individual clinics of the AD Pediatric Clinic of the University of Athens at the Children’s Hospital “Agia Sofia”. Regarding the laboratory sector of the Unit, the laboratory of the Clinical and Translation Research Unit in Endocrinology as well as the Hormonal Laboratory, both certified with ISO 9001, have the ability to provide all hormonal determinations. Special mention is given to the Molecular Endocrinology Laboratory of the Endocrinology Unit,
Therefore, the child and adolescent with a rare endocrine disease has the opportunity, at the Center for Expertise on Rare Endocrine Diseases of the Children’s Hospital “Agia Sofia”, which is now a full member of the respective European network ENDO-ERN to acquire the holistic approach in terms of clinical evaluation, laboratory investigation and molecular confirmation of the genetic diagnosis where necessary as well as the appropriate family counseling. It should be noted that the Center of Expertise is fully staffed and cooperates with all the sub-specialties within the Children’s Hospital “Agia Sofia” that are necessary for the multidisciplinary approach to rare endocrine diseases. Sampling, cooperates closely with the Hematology-Oncology Unit in cases of childhood malignancy that led to endocrine disease, with the Department of Nuclear Medicine in case of childhood thyroid cancer that requires completion of treatment with radioactive iodine for confirmation of rare endocrine neoplasms, with the Department of Radiology-Ultrasound but also neuroimaging methods with magnetic resonance imaging and computed tomography where the investigation with corresponding imaging is necessary. Therefore, there is close and continuous cooperation with all the individual departments of the hospital. with the Department of Nuclear Medicine in case of childhood thyroid cancer that requires completion of treatment with radioactive iodine, with the Laboratory of Pathology of the Hospital for the histological confirmation of rare endocrine neoplasms and with angiography axial where investigation with corresponding imaging is necessary. Therefore, there is close and continuous cooperation with all the individual departments of the hospital. with the Department of Nuclear Medicine in case of childhood thyroid cancer that requires completion of treatment with radioactive iodine, with the Laboratory of Pathology of the Hospital for the histological confirmation of rare endocrine neoplasms and with angiography axial where investigation with corresponding imaging is necessary. Therefore, there is close and continuous cooperation with all the individual departments of the hospital. with the Department of Radiology-Ultrasound but also neuroimaging methods with magnetic resonance imaging and computed tomography where the investigation with corresponding imaging is necessary. Therefore, there is close and continuous cooperation with all the individual departments of the hospital. with the Department of Radiology-Ultrasound but also neuroimaging methods with magnetic resonance imaging and computed tomography where the investigation with corresponding imaging is necessary. Therefore, there is close and continuous cooperation with all the individual departments of the hospital.
At the clinical level, further cooperation takes place with interaction for the proper treatment of these rare diseases in collaboration with the Department of Neurosurgery, the Department of Otolaryngology, the Department of Pediatric Surgery, the Department of Child Psychiatry for multidisciplinary follow-up.
Finally, the Metabolism and Diabetes Endocrinology Unit and the Center of Expertise work closely with the Institute of Child Health and specifically with the Unit – Directorate of Neonatal Detection for the detection and further monitoring of children with congenital hypothyroidism.
Of course, the comprehensive and specialized treatment of rare endocrine diseases in childhood is completed by organizing the transition of care at the end of adolescence to respective centers for patients with endocrine diseases in adult hospitals, offering full coverage of each patient until the patient is informed.
“AGIA SOFIA” CHILDREN’S HOSPITAL
A ‘PEDIATRIC CLINIC OF MEDICAL SCHOOL
NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS
ENDOCRINOLOGY, METABOLISM AND DIABETES UNIT
FULL MEMBER OF EUROPEAN REFERENCE NETWORK (ENDO-ERN) from 1/1/2022
CENTER OF EXPERTISE FOR RARE PEDIATRIC CHILD DISEASES (Government Gazette 4271/22/11/2019)
