[HTML][HTML] Recent advances in central congenital hypothyroidism

N Schoenmakers, KS Alatzoglou… - Journal of …, 2015 - joe.bioscientifica.com
Obesity is an escalating epidemic, but an effective noninvasive therapy is still scarce. For
obesity treatment, anorexigenic neuropeptides are promising tools, but their delivery from …

Genetic disorders of thyroid development, hormone biosynthesis and signalling

C Moran, N Schoenmakers, WE Visser… - Clinical …, 2022 - Wiley Online Library
Abstract Development and differentiation of the thyroid gland is directed by expression of
specific transcription factors in the thyroid follicular cell which mediates hormone …

[HTML][HTML] A mutation in the thyroid hormone receptor alpha gene

E Bochukova, N Schoenmakers… - … England Journal of …, 2012 - Mass Medical Soc
Thyroid hormones exert their effects through alpha (TRα1) and beta (TRβ1 and TRβ2)
receptors. Here we describe a child with classic features of hypothyroidism (growth …

[HTML][HTML] Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

E Schoenmakers, M Agostini, C Mitchell… - The Journal of …, 2010 - Am Soc Clin Investig
Selenium, a trace element that is fundamental to human health, is incorporated into some
proteins as selenocysteine (Sec), generating a family of selenoproteins. Sec incorporation is …

Mechanisms in endocrinology: the pathophysiology of transient congenital hypothyroidism

C Peters, N Schoenmakers - European Journal of …, 2022 - academic.oup.com
Transient congenital hypothyroidism (TCH) refers to congenital hypothyroidism which
spontaneously resolves in the first few months or years of life. Currently, there is a paucity of …

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Y Sun, B Bak, N Schoenmakers, ASP van Trotsenburg… - Nature …, 2012 - nature.com
Congenital central hypothyroidism occurs either in isolation or in conjunction with other
pituitary hormone deficits. Using exome and candidate gene sequencing, we identified 8 …

[HTML][HTML] 2018 European Thyroid Association (ETA) guidelines on the diagnosis and management of central hypothyroidism

L Persani, G Brabant, M Dattani… - European thyroid …, 2018 - etj.bioscientifica.com
Objectives: Central hypothyroidism (CeH) is a rare form of hypothyroidism characterized by
insufficient thyroid stimulation due to disturbed pituitary and/or hypothalamic functioning …

An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α

C Moran, N Schoenmakers, M Agostini… - The Journal of …, 2013 - academic.oup.com
Context: The first human cases (female, age 6 y; father and daughter, ages 47 and 11 y,
respectively) with growth retardation/short stature, skeletal dysplasia, constipation, and …

[HTML][HTML] Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR) α1 and TRα2: clinical, biochemical, and genetic analyses of three …

C Moran, M Agostini, WE Visser… - The lancet Diabetes & …, 2014 - thelancet.com
Background The thyroid hormone receptor α gene (THRA) transcript is alternatively spliced
to generate either thyroid hormone receptor (TR) α1 or a non-hormone-binding variant …

Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ

AK Nicholas, EG Serra, H Cangul… - The Journal of …, 2016 - academic.oup.com
Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital
hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS) …