Anita C.S. Hokken-Koelega

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Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Using exome and candidate gene sequencing, we identified 8 distinct mutations and 2 deletions in IGSF1 in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations. IGSF1(More)
score for chronological age minus target height SD score). There was no significant correlation with rhGH dose. Prolonged treatment with either dose had no adverse effect on IGF-I concentrations, carbohydrate or lipid metabolism. As early age and divergence between height SD score and target height SD score seem more important for growth response than rhGH(More)
Small for gestational age (SGA) is defined as a birth weight and/or birth length below -2 standard deviation scores (SDS), adjusted for gestational age (Clayton et al., 2007). To determine whether a child is born SGA, accurate knowledge of gestational age, accurate measurements of weight and length at birth, and an appropriate reference population to(More)
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