Precocious puberty in a girl with Down syndrome due to primary hypothyroidism

Van Wyk-Grumbach syndrome is a rare cause of precocious puberty due to hypothyroidism. We report a case of Van Wyk-Grumbach syndrome in a 4.3-year-old female patient with Down syndrome. She was investigated for hematuria for three months before she was referred to our clinic. Physical examina...

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Main Authors: Tolga Ozgen, Ayla Güven, Murat Aydin
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2009-08-01
Series:The Turkish Journal of Pediatrics
Online Access:https://turkjpediatr.org/article/view/2321
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author Tolga Ozgen
Ayla Güven
Murat Aydin
author_facet Tolga Ozgen
Ayla Güven
Murat Aydin
author_sort Tolga Ozgen
collection DOAJ
description Van Wyk-Grumbach syndrome is a rare cause of precocious puberty due to hypothyroidism. We report a case of Van Wyk-Grumbach syndrome in a 4.3-year-old female patient with Down syndrome. She was investigated for hematuria for three months before she was referred to our clinic. Physical examination revealed typical morphologic features of Down syndrome and hypothyroidism. Pubertal development stages were: breast at stage III and pubic hair at stage I. In luteinizing hormone releasing hormone (LHRH) stimulation test, peak LH level remained less than 0.1 mIU/ml. Serum estradiol level was 117.7 pg/ml, which was higher than normal for her age (normal range: 2-15 pg/ml). The pelvic ultrasonographic evaluation revealed bilateral multicystic enlarged ovaries. Serum thyroid stimulating hormone (TSH) concentration was higher than 500 microIU/ml and free thyroxin (FT4) and free triiodothyronine (FT3) levels were as low as 0.4 ng/dl (0.7-1.48) and 1.0 pg/ml (1.71-3.71), respectively. L-thyroxin treatment at a dose of 100 microg/m2/day was started. Regression in breast development was obtained after one month and her bleeding did not repeat again. In conclusion, urinary and vaginal bleeding in young children must be clearly differentiated, and hypothyroidism must be investigated in children who have precocious puberty.
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spelling doaj-art-bdfce756adfd4b73b6a3f0afb4386e062025-08-20T03:01:15ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212009-08-01514Precocious puberty in a girl with Down syndrome due to primary hypothyroidismTolga Ozgen0Ayla GüvenMurat AydinDepartment of Pediatric Endocrinology, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey. Van Wyk-Grumbach syndrome is a rare cause of precocious puberty due to hypothyroidism. We report a case of Van Wyk-Grumbach syndrome in a 4.3-year-old female patient with Down syndrome. She was investigated for hematuria for three months before she was referred to our clinic. Physical examination revealed typical morphologic features of Down syndrome and hypothyroidism. Pubertal development stages were: breast at stage III and pubic hair at stage I. In luteinizing hormone releasing hormone (LHRH) stimulation test, peak LH level remained less than 0.1 mIU/ml. Serum estradiol level was 117.7 pg/ml, which was higher than normal for her age (normal range: 2-15 pg/ml). The pelvic ultrasonographic evaluation revealed bilateral multicystic enlarged ovaries. Serum thyroid stimulating hormone (TSH) concentration was higher than 500 microIU/ml and free thyroxin (FT4) and free triiodothyronine (FT3) levels were as low as 0.4 ng/dl (0.7-1.48) and 1.0 pg/ml (1.71-3.71), respectively. L-thyroxin treatment at a dose of 100 microg/m2/day was started. Regression in breast development was obtained after one month and her bleeding did not repeat again. In conclusion, urinary and vaginal bleeding in young children must be clearly differentiated, and hypothyroidism must be investigated in children who have precocious puberty. https://turkjpediatr.org/article/view/2321
spellingShingle Tolga Ozgen
Ayla Güven
Murat Aydin
Precocious puberty in a girl with Down syndrome due to primary hypothyroidism
The Turkish Journal of Pediatrics
title Precocious puberty in a girl with Down syndrome due to primary hypothyroidism
title_full Precocious puberty in a girl with Down syndrome due to primary hypothyroidism
title_fullStr Precocious puberty in a girl with Down syndrome due to primary hypothyroidism
title_full_unstemmed Precocious puberty in a girl with Down syndrome due to primary hypothyroidism
title_short Precocious puberty in a girl with Down syndrome due to primary hypothyroidism
title_sort precocious puberty in a girl with down syndrome due to primary hypothyroidism
url https://turkjpediatr.org/article/view/2321
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AT murataydin precociouspubertyinagirlwithdownsyndromeduetoprimaryhypothyroidism