Congenital Hypothyroidism: A 2020–2021 Consensus guidelines update—An ENDO-European reference network initiative endorsed by the European Society for …
P Van Trotsenburg, A Stoupa, J Léger, T Rohrer… - Thyroid, 2021 - liebertpub.com
Background: An ENDO-European Reference Network (ERN) initiative was launched that
was endorsed by the European Society for Pediatric Endocrinology and the European …
was endorsed by the European Society for Pediatric Endocrinology and the European …
Acromegaly
A Colao, LFS Grasso, A Giustina, S Melmed… - Nature Reviews …, 2019 - nature.com
Acromegaly is characterized by increased release of growth hormone and, consequently,
insulin-like growth factor I (IGF1), most often by a pituitary adenoma. Prolonged exposure to …
insulin-like growth factor I (IGF1), most often by a pituitary adenoma. Prolonged exposure to …
2018 European Thyroid Association (ETA) guidelines on the diagnosis and management of central hypothyroidism
Objectives: Central hypothyroidism (CeH) is a rare form of hypothyroidism characterized by
insufficient thyroid stimulation due to disturbed pituitary and/or hypothalamic functioning …
insufficient thyroid stimulation due to disturbed pituitary and/or hypothalamic functioning …
Genetics of combined pituitary hormone deficiency: roadmap into the genome era
Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives
C Peters, ASP Van Trotsenburg… - European journal of …, 2018 - academic.oup.com
Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland
itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of …
itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of …
Demographic history, selection and functional diversity of the canine genome
The domestic dog represents one of the most dramatic long-term evolutionary experiments
undertaken by humans. From a large wolf-like progenitor, unparalleled diversity in …
undertaken by humans. From a large wolf-like progenitor, unparalleled diversity in …
Hypothyroidism: the difficulty in attributing symptoms to their underlying cause
HI Jansen, A Boelen, AC Heijboer… - Frontiers in …, 2023 - frontiersin.org
Common symptoms of overt hypothyroidism are non-specific and include fatigue, lethargy,
and dry skin. Although the diagnosis is considered to be straightforward, no single symptom …
and dry skin. Although the diagnosis is considered to be straightforward, no single symptom …
Congenital hypothyroidism
AJ Wassner - Clinics in perinatology, 2018 - perinatology.theclinics.com
Thyroid hormone has important effects on almost every organ system and plays a crucial
role in normal growth and neurologic development. Congenital hypothyroidism affects …
role in normal growth and neurologic development. Congenital hypothyroidism affects …
Mechanisms in endocrinology: novel genetic causes of short stature
JM Wit, W Oostdijk, M Losekoot… - European Journal of …, 2016 - academic.oup.com
The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …
Novel insights into pituitary tumorigenesis: genetic and epigenetic mechanisms
V Srirangam Nadhamuni, M Korbonits - Endocrine reviews, 2020 - academic.oup.com
Substantial advances have been made recently in the pathobiology of pituitary tumors.
Similar to many other endocrine tumors, over the last few years we have recognized the role …
Similar to many other endocrine tumors, over the last few years we have recognized the role …