hrp0095s8.2 | Emerging problems in thyroid diseases | ESPE2022

Diagnosis and Management of Central Congenital Hypothyroidism

Zwaveling-Soonawala Nitash

Central congenital hypothyroidism (central CH) refers to an inborn deficient thyroid hormone production due to insufficient pituitary TSH stimulation of an otherwise normal thyroid gland. Central CH may be part of combined pituitary hormone deficiencies (CPHD) (60%) or may occur in isolation. The most common cause of CPHD consists of a characteristic pituitary malformation referred to as pituitary stalk interruption syndrome. Up until 2012 most cases of isolated central CH rem...

hrp0094p1-91 | Thyroid A | ESPE2021

The effect of preoperative calcitriol prophylaxis on post-thyroidectomy hypocalcaemia in children

Vendrig Lisanne , Mooij Christiaan , Derikx Joep , Trotsenburg Paul van , Zwaveling-Soonawala Nitash ,

Background: Transient or permanent hypoparathyroidism is one of the most well-known complications of total thyroidectomy and may lead to symptomatic hypocalcaemia. Treatment of post-thyroidectomy hypocalcaemia usually consists of postoperative calcium and/or vitamin D supplementation. In 2013 we implemented prophylactic pre-thyroidectomy calcitriol supplementation for all children undergoing total thyroidectomy at Amsterdam UMC. The objective of this study was...

hrp0094p2-446 | Thyroid | ESPE2021

The efficacy and short- and long-term side effects of radioactive iodine treatment in pediatric Graves’ disease: a systematic review

Lutterman Sarah , Zwaveling-Soonawala Nitash , Verberne Hein , Verburg Frederik , van Trotsenburg Paul , Mooij Christiaan

Background: Graves’s disease (GD) is the most common cause of hyperthyroidism. Maximal 30% of pediatric GD patients achieve remission with anti-thyroid drugs. The majority of patients therefore require definitive treatment. Both thyroidectomy and radioactive iodine (RAI) are often used as definitive treatment for GD. However, data on efficacy, and short- and long-term side effects of RAI treatment for pediatric GD are relatively scarce.Methods: A ...

hrp0094p2-448 | Thyroid | ESPE2021

Methimazole-induced remission rates in pediatric graves’ disease: A systematic review

van Lieshout Jelmer , Mooij Christiaan , van Trotsenburg Paul , Zwaveling-Soonawala Nitash

Objective: Comparison of studies on remission rates in pediatric Graves’ disease is complicated by lack of uniformity in treatment protocols, remission definition, and follow-up duration. We performed a systematic review on remission rates in pediatric Graves’ disease and attempted to create uniformity by recalculating remission rates based on an intention-to-treat analysis. Results: Of 1,890 articles, 29 articles consist...

hrp0094p2-449 | Thyroid | ESPE2021

Congenital multinodular goiter causing acute airway obstruction in a newborn: a case report

Mirjam Scheffer-Rath , Katharina Löhner , Nitash Zwaveling-Soonawala , Boot Annemieke

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal...

hrp0097p1-127 | Growth and Syndromes | ESPE2023

Effects and safety of growth hormone (GH) treatment in 6 children with pycnodysostosis

Renes Judith , Sas Theo , Clement-de Boer Agnes , Zwaveling-Soonawala Nitash , van der Kaay Danielle , Hokken-Koelega Anita

Background: Pycnodysostosis is a very rare autosomal recessive skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature resulting in an adult height in males typically <150 cm and in females <134 cm. Bone-fragility and frequent fractures are present. There are few case-reports on the effects of GH treatment.Objective: To evaluate the effect and safety of GH in 6 patients wit...

hrp0095fc1.3 | Thyroid | ESPE2022

Meta-analysis of DNA methylation datasets identifies aberrant DNA methylation of thyroid function and development genes in Down syndrome

Lauffer Peter , Zwaveling-Soonawala Nitash , Li Shaobo , Bacalini Maria , Naumova Oxana , Wiemels Joseph , Boelen Anita , Henneman Peter , de Smith Adam , van Trotsenburg Paul

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

hrp0082lbp-d3-1016 | (1) | ESPE2014

The Diverse Phenotype of Mutations in T3 Receptor Alpha (TRα)

van Gucht Anja , Demir Korcan , Zwaveling Nitash , Wennink Hanneke , Buyukinan Muammer , Catli Gonul , Dundar Bumin Nuri , Meima Marcel , Visser Edward , van Trotsenburg Paul , Visser Theo , Peeters Robin

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

hrp0094p2-452 | Thyroid | ESPE2021

Complications after pediatric thyroidectomy: lymph node dissection is a risk factor for permanent hypocalcemia

van Rooijen Jesse J. , Paul van Trotsenburg A.S. , Zwaveling-Soonawala Nitash , Nieveen van Dijkum Els J.M. , Engelsman Anton F. , Derikx Joep P.M. , Mooij Christiaan F.

Background: Thyroidectomy is a definitive treatment option in some benign thyroid disorders and the definitive treatment option for thyroid cancer. As postoperative mortality is extremely rare data on postoperative complications and long-term health consequences are important.Objective: To evaluate the frequencies of short- and long-term complications, and their risk factors in pediatric patients (0-18 years) who underwent a thyroidectomy in a tertiary c...