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Gemma Xifra, Silvia Mauri, Jordi Gironès, José Ignacio Rodríguez Hermosa, Josep Oriola, Wifredo Ricart, and José Manuel Fernández-Real

Background Thyroid hormone resistance (RTH) is an inherited syndrome, mostly inherited as an autosomal dominant trait, caused by mutations in the thyroid hormone receptor-β ( TRβ ( THRB )) gene and characterized by reduced sensitivity to

Open access

Motoyuki Igata, Kaku Tsuruzoe, Junji Kawashima, Daisuke Kukidome, Tatsuya Kondo, Hiroyuki Motoshima, Seiya Shimoda, Noboru Furukawa, Takeshi Nishikawa, Nobuhiro Miyamura, and Eiichi Araki

Background Resistance to thyroid hormone (RTH), a syndrome of reduced tissue responsiveness to thyroid hormones that was first reported in 1967 by Refetoff et al . (1) , is characterized by high levels of serum thyroid hormones and poor

Open access

Haruhiro Sato and Yuichiro Tomita

. ( ) 4 Usala SJ Bale AE Gesundheit N Weinberger C Lash RW Wondisford FE McBride OW Weintraub BD. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene

Open access

Ohoud Al Mohareb, Mussa H Al Malki, O Thomas Mueller, and Imad Brema

editing. References 1 Weiss RE Stein MA Refetoff S . Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone . Thyroid 1997 7 389

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I R Wallace, E Healy, R S Cooke, P K Ellis, R Harper, and S J Hunter

administration of 400 μg TRH intravenously. A normal response is an increase in TSH to >5 mU/l or >200% with the peak at 20 min. In patients with thyroid hormone resistance, there is always an increase in TSH, which is usually exaggerated (12) Time

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Jin Hui Ho, Ana Vetriana Abd Wahab, Yin Khet Fung, and Serena Sert Kim Khoo

adrenal hyperplasia, androgen-secreting tumours, Cushing’s syndrome and hyperthecosis. HAIR-AN syndrome is an extreme phenotype of PCOS characterised by hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN) commonly presenting in the

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Marina Yukina, Nurana Nuralieva, Maksim Solovyev, Ekaterina Troshina, and Evgeny Vasilyev

). IAS should be differentiated from another form of autoimmune hypoglycaemic syndrome, type B insulin resistance. This disease is caused by stimulation of insulin receptors by antibodies (rI-Ab). The exact prevalence of this disease is unknown ( 16

Open access

A Deeb, O Afandi, S Attia, and A El Fatih

growth hormone (GH) peak on a glucagon stimulation test was 9.6 μg/l (cut off: 10 μg/l). His insulin-like growth factor1 (IGF1) level was normal at 13.28 nmol (NR: 7.8–51.8), as was his IGF-binding protein 3 (IGFBP3) at 117 nmol (55.6–292). His thyroid

Open access

N Jassam, N Amin, P Holland, R K Semple, D J Halsall, G Wark, and J H Barth

Background Insulin autoimmune syndrome (IAS or Hirata's disease) is a common cause of hypoglycaemia and mild insulin resistance that has most frequently been described in Japan, but is very rare within the Caucasian population (1) . In this

Open access

Maria P Yavropoulou, Efstathios Chronopoulos, George Trovas, Emmanouil Avramidis, Francesca Marta Elli, Giovanna Mantovani, Pantelis Zebekakis, and John G Yovos

Background Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterised by normal renal function and resistance to the renal action of parathyroid hormone. Inactivating PTH/PTHrp signalling disorders (iPPSD