The Turkish Journal of Pediatrics
2009 , Vol 51 , Num 4
Precocious Puberty in a Girl with Down Syndrome due to
Primary Hypothyroidism
Department of Pediatric Endocrinology, Ondokuz Mayıs 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 μIU/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 μg/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.
Keywords :
precocious puberty, hypothyroidism, Down syndrome.