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Unusual presentations of a girl with Down syndrome: Van Wyk-Grumbach syndrome
-
Han Hyuk Lim
,
Hong Ryang Kil
Veröffentlicht/Copyright:
11. Oktober 2012
Abstract
Van Wyk-Grumbach syndrome is a rare disease characterized by precocious puberty associated with prolonged hypothyroidism and multicystic enlarged ovaries. A 9-year-old girl with Down syndrome visited our hospital for early menarche. At birth, she showed subclinical hypothyroidism [11.8 μg/dL of thyroxine (T4) and 6.05 μIU/mL of thyroid stimulating hormone (TSH)], but she had not been followed up in our clinic. On physical examination, pubertal Tanner stage was breast II and pubic hair I. Laboratory findings were as follows: 0.30 ng/dL of free T4, 81.30 μIU/mL of TSH, 0.1 IU/L of luteinizing hormone, and 6.35 IU/L of follicle-stimulating hormone. Her bone age was 6 years. Her pelvic sonogram revealed multiple cysts in both enlarged ovaries. She was diagnosed with Van Wyk-Grumbach syndrome. Levothyroxine treatment at a dose of 50 mg/m2/day was started. Regression of breast development was obtained after 2 months, and her vaginal bleeding did not recur.
Received: 2012-6-19
Accepted: 2012-8-24
Published Online: 2012-10-11
Published in Print: 2012-12-01
©2012 by Walter de Gruyter Berlin Boston
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Artikel in diesem Heft
- Masthead
- Masthead
- Review article
- The pros and cons of sex steroid priming in growth hormone stimulation testing
- Images in pediatric endocrinology
- Tuber sinerium hamartoma causing precocious puberty in a child
- Original articles
- Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche
- Disorders of sex development among Sudanese children: 5-year experience of a pediatric endocrinology clinic
- Anti-Müllerian hormone levels in serum 1 year after unilateral orchiopexy
- Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency
- Apparent mineralocorticoid excess syndrome: report of one family with three affected children
- A decrease in fasting FGF19 levels is associated with the development of non-alcoholic fatty liver disease in obese adolescents
- Acanthosis nigricans predicts the clustering of metabolic syndrome components in Hispanic elementary school-aged children
- Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy
- Increased endothelial microparticles in obese and overweight children
- The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism
- Hyperprolactinemia in children: clinical features and long-term results
- Oxidant/antioxidant system markers and trace element levels in children with nutritional rickets
- Single-nucleotide polymorphism of the osteoprotegerin gene and its association with bone mineral density in Chinese postmenopausal women
- A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation
- Patient reports
- Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation
- An unusual cause of delayed puberty: Berardinelli-Seip syndrome
- Primary hypogonadism in a case with XLAG syndrome
- Precocious puberty produced by an osteolipoma of the tuber cinereum
- A case of Mayer-Rokitansky-Küster-Hauser syndrome presenting as Graves disease
- Priapism in teenage boys following depot testosterone
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- Short communications
- Cortisol response to the Trier Social Stress Test among Chinese adolescents
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