Van Wyk-Grumbach syndrome – rare manifestation of a common disease

Autor: Tomica Bratic, Sara Fares, Duje Braovac, Maja Vinković, Katja Dumić Kubat
Jazyk: angličtina
Rok vydání: 2019
Zdroj: Liječnički vjesnik
Volume 141
Issue suppl.1
ISSN: 1849-2177
0024-3477
Popis: Van Wyk-Grumbach syndrome (VWGS) is characterized by prolonged primary hypothyroidism, isosexual precocious pseudopuberty, delayed bone age with either enlarged multicystic ovaries in girls or enlarged testes in boys. Pathophysiology is most likely based on similarity of TSH and FSH glycoproteins and its binding to FSH receptors leading to precocious pseudopuberty. CASE REPORT A 8.5-year old girl was referred to endocrinologist due to hypothyroidism and obesity. She experienced fatigue, weakness, weight gain and growth retardation for 1.5 years prior to referral. At the examination she was short 110 cm(-3.7 SDS), obese 40.5 kg(+1.75 SDS) with bradycardia c/p 58/min; edematous, with dry skin, thin hair and hoarse voice. Breasts were Tanner II-III, with no pubic or axillary hair. Menarche occurred at the age of 8.3 years. Labs: TSH >100 mU/L(ref. 0.5-4.7), fT4 2.6 nmol/L(ref. 9-19), FSH 3.9 IU/L(ref. 0.4-3.5), anti-TG 18 IU/mL(ref.
Databáze: OpenAIRE
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