Van Wyk-Grumbach Syndrome with Kocher-Debré-Sémélaigne Syndrome: Case Report of a Rare Association
نویسندگان
چکیده
منابع مشابه
Kocher-Debré-Sémélaigne syndrome with pericardial effusion.
Kocher-Debré-Sémélaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report an 11-year-old female child with hypothyroidism and limb muscle pseudohypertrophy with pericardial effusion. The patient presented with hypertrichosis only. She had dull facies and marked hypertrophy of both calves and cervical muscles. Pericardial effusion was c...
متن کاملKocher-Debré-Sémélaigne syndrome and congenital nystagmus.
A 11-year-old boy with hypothyroidism developed generalized muscle hypertrophy and proximal muscular weakness. Electromyographic findings were suggestive of myopathy. He had had congenital nystagmus (CN) since early infancy. Although the association of childhood hypothyroidism and CN has been documented before, the triad of hypothyroidism, hypertrophic myopathy and CN exhibited by the patient i...
متن کاملA Case of Van Wyk-Grumbach Syndrome
In boys precocious puberty is defined as the development of secondary sexual characters before 9 year of age. In girls, the development of breasts (thelarche) before 7.5 year, the development of pubic hairs (pubarche) before 8.5 year or menarche before the age of 9.5 year is considered precocious [1]. Hypothyroidism is usually associated with delayed puberty and rarely with precocious puberty [...
متن کاملAn unusual presentation of girl with down syndrome: Van-Wyk Grumbach syndrome
Van Wyk-Grumbach syndrome is a rare disease characterized by precocious puberty associated with prolonged hypothyroidism and multicystic enlarged ovaries. A9 year-old girl with Down syndrome visited our hospital for early menarche. At birth, she showed subclinical hypothyroidism (11.8 mg/dL of thyroxine (T4) and 6.05 mIU/mL of thyroid stimulating hormone (TSH)), but she had not been followed up...
متن کاملAn unusual presentation of acquired hypothyroidism: the Van Wyk-Grumbach syndrome.
The association in young females of long-standing primary hypothyroidism, isosexual precocious pseudopuberty and multicystic enlarged ovaries was first described in 1960 by Van Wyk and Grumbach. Since then, sporadic case reports have contributed to clarifying the key features of this syndrome. The unique elements that lead to this diagnosis are FSH-dominated sexual precocity combined with a del...
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ژورنال
عنوان ژورنال: European Thyroid Journal
سال: 2016
ISSN: 2235-0640,2235-0802
DOI: 10.1159/000448993