Searchable abstracts of presentations at key conferences in endocrinology

ea0066s5.2 | Nurses' Day for Endocrine Professionals: Symposium 5 | BSPED2019

Congenital TSH deficiency

Schoenmakers Nadia

Congenital thyroid stimulating hormone (TSH) deficiency occurs due to hypothalamic or pituitary pathology, with consequent impaired stimulation of the thyroid gland by TSH resulting in central congenital hypothyroidism (CCH). Although assumed to be rare, CCH may be more common than previously appreciated with an incidence of up to 1:21 000 reported in the Netherlands. TSH deficiency is most frequently associated with additional pituitary hormone deficits but may also occur in ...

ea0049s26.2 | Tissue specific defects in thyroid hormone action | ECE2017

Syndromes of decreased sensitivity to thyroid hormone

Schoenmakers Nadia

Disorders of thyroid hormone action are classified broadly, to encompass conditions with defective cellular uptake, metabolism or nuclear action of thyroid hormones. Genomic thyroid hormone action is mediated via receptor subtypes (TRalpha, TRbeta) with differing tissue distributions. TRbeta-mediated Resistance to Thyroid Hormone (RTH) is characterised by elevated thyroid hormones, raised metabolic rate and cardiac hyperthyroidism but hepatic resistance (dyslipidaemia, steatos...

ea0030s4 | CME TRAINING DAY | BSPED2012

Genetic disorders of thyroid physiology and development

Schoenmakers Nadia

Congenital Hypothyroidism (CH) is the commonest inborn endocrine disorder (prevalence 1 in 3000), and occurs either due to failure of normal gland development (thyroid dysgenesis), or due to defective thyroid hormone synthesis in a structurally normal gland (dyshormonogenesis). Mutations in known thyroid transcription factors, and in genes encoding components of the thyroid hormone biosynthetic machinery, have been implicated in CH, attesting to the role of these genes in huma...

ea0021oc3.5 | Young Endocrinologists prize session | SFEBES2009

A multisystem selenoprotein disorder with a thyroid signature

Schoenmakers Nadia , Schoenmakers Erik , Agostini Maura , Mitchell Catherine , Papp Laura , Rajanayagam Odelia , Padidela Raja , Doffinger Rainer , Luan Jian'an , Lu Jun , Campi Irene , Burton Hannah , Muntoni Francesco , O' Donovan Dominic , Dean Andrew , Warren Anne , Guicheney Pascale , Fitzgerald Rebecca , Coles Alasdair , Gaston Hill , Holmgren Arne , Cooke Marcus S , Halsall David , Wareham Nicholas , Beck-Peccoz Paolo , Ogunko Arthur , Dattani Mehul , Gurnell Mark , Chatterjee Krishna

Selenocysteine insertion sequence-binding protein 2 (SECISBP2) mediates translational incorporation of selenocysteine into 25 known human selenoproteins, including iodothyronine deiodinases. Two unrelated male subjects, aged 36 years (P1) and 3.6 years (P2), exhibited markedly elevated free thyroxine (fT4), normal/low free triiodothyronine (fT3), but normal thyrotropin (TSH) levels, indicating reduced T4 to T3 conversion:<table b...

ea0086p368 | Thyroid | SFEBES2022

Falsely elevated serum TSH in a mother and her four children

Darrat Milad , Shah Shilpa , Halsall David , Schoenmakers Nadia , Bradley Una

Background: Elevated TSH concentration should be assessed and treated with caution because of the possibility of transient thyroid dysfunction, or, in rare cases, measurement interference. We describe a case with a rare cause of elevated TSH level in a 39-year-old mother and her four children.Case Summary: A 39-year-old lady was referred with a long history of high serum TSH ranging between 18.9 to 38.7 (reference interval 0.4-4.0 mU/l) with FT4 concentr...

ea0085p87 | Thyroid | BSPED2022

Congenital hypothyroidism due to PAX8 gene mutation – a case report

Agrawal Pankaj , R Kapoor Ritika , R Buchanan Charles , Schoenmakers Nadia , Bhushan Arya Ved

Introduction: Congenital hypothyroidism (CH) occurs 1 in 3,000-4,000 live-births. The causes of CH can be divided into two groups: thyroid developmental defects (thyroid dysgenesis) and inborn errors of thyroid hormone biosynthesis (dyshormonogenesis). Although mutations in paired box gene 8 (PAX8) usually cause thyroid dysgenesis, they have been reported in association with eutopic thyroid gland without function. PAX8 has been described to have a role in regulating the expres...

ea0048o3 | Oral Communications | SFEEU2017

Compensated hyperthyrotropinaemia due to partial loss-of-function mutation in TSH receptor gene

McGowan Anne , Moran Carla , Vanderpump Mark , Dattani Mehul , Chatterjee Krishna , Schoenmakers Nadia

Case history: A clinically euthyroid 7-year-old boy was noted to have a persistently elevated TSH 7.35–14 mU/l (NR 0.27–4.2) and normal FT4 15.0 pmol/l (NR 10-24) with negative anti-thyroid peroxidase antibodies. Thyroid ultrasonography revealed a eutopically-located thyroid gland of normal size. Following commencement of levothyroxine, he developed insomnia, irritability and headaches, resulting in cessation of treatment. Growth and development proceeded ...

ea0059p201 | Thyroid | SFEBES2018

Targeted sequencing of dyshormonogenesis-associated genes in Macedonian cases with congenital hypothyroidism and gland-in-situ reveals a low mutation frequency

Zdraveska Nikolina , Kocova Mirjana , Nicholas Adeline K , Anastasovska Violeta , Schoenmakers Nadia

Neonatal screening for congenital hypothyroidism (CH) in the Republic of Macedonia was piloted in 2002 and implemented nationally in 2007, demonstrating a CH incidence of 1 in 1916. 52.7% cases exhibit a normally-located gland-in-situ (GIS CH), however, although this may indicate genetically-mediated dyshormonogenesis, genetic stratification has not previously been undertaken. We selected singleton GIS CH cases (n=22), born at term, with birth weight >3000 g in wh...

ea0036P83 | (1) | BSPED2014

Congenital central hypothyroidism due to a TSHB mutation with uniparental inheritance

Nicholas Adeline K , Jaleel Safia , Schoenmakers Erik , Dattani Mehul , Roche Edna , Chatterjee V Krishna , Schoenmakers Nadia

Introduction: Biallelic mutations in the TSHB gene are a recognized cause of isolated congenital central hypothyroidism (CH), with autosomal recessive inheritance. In countries where neonatal CH screening relies on detection of an elevated TSH, such cases are missed, with the potential for delayed diagnosis and subsequent developmental impairment.Case: A female infant presented aged 8 weeks with prolonged jaundice, poor weight gain, constipation...

ea0033p6 | (1) | BSPED2013

Severe 21-hydroxylase deficiency congenital adrenal hyperplasia and congenital hypothyroidism due to thyroglobulin mutations in a single family: two distinct genetic disorders with phenotypic variability within a single family

Ponmani Caroline , Schoenmakers Nadia , Rumsby Gill , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Case report: Two of six children born to unrelated parents presented in the neonatal period with salt-losing CAH due to compound heterozygosity in CYP21A2 (maternal...