...; in Burrow GN, Dussault JH (eds): Neonatal Thyroid Screening. New York, Raven Press, 1980, pp 155-165. 7. Illig R, Torresani T: TSH determination in dried blood: a reliable, efficient, and inexpensive method for neonatal thyroid screening; in Burrow GN, Dussault JH (eds): Neonatal Thyroid Screening. New...

... ML, LaFranchi S: Regional screening for congenital hypothyroidism: results of screening one million North American infants with filter paper spot T 4 -TSH; in Burrow GN, Dussault JH (eds): Neonatal Thyroid Screening. New York, Raven Press, 1980, pp 155-165. 7. Illig R, Torresani T: TSH...

... A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE, Congenital Hypothyroidism Consensus Conference Group: European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin...

... Metab 2002;87:557-562. 8. Dimitropoulos A, Molinari L, Etter K, Torresani T, Lang-Muritano M, Jenni OG, Largo RH, Latal B: Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. Pediatr Res 2009;65:242-248. 9. Albert BB, Heather N, Derraik JG...

..., Van Vliet G: Therapeutic approach of fetal thyroid disorders. Horm Res Paediatr 2010;74:1-5. 32. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE, Congenital Hypothyroidism Consensus Conference Group: European Society...

... A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group: European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin...

... congenital hypothyroidism and macroorchidism due to mutations in the IGSF1 gene. References 1 Torresani T: Neonatal screening for congenital hypothyroidism; in Szinnai G (ed): Paediatric Thyroidology. Endocr Dev. Basel, Karger, 2014, vol 26, pp 44-49. 2 Garcia M, Fernandez A, Moreno JC: Central...

... MR, Prader A, Torresani T, Werder EA, Willi U, Schenkel L: A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17 beta-oestradiol. Eur J Pediatr 1990;150:86-91. 33. O'Connell MB: Pharmacokinetic and pharmacologic variation between different estrogen products. J...

... cancer. Pediatr Blood Cancer 2017, Epub ahead of print. 27. Leger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, et al: European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab...

.... Illig R, DeCampo C, Lang-Muritano MR, Prader A, Torresani T, Werder EA, Willi U, Schenkel L: A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17beta-oestradiol. Eur J Pediatr 1990;150:86-91 91. Bertelloni S, Cinqhanta L, Baroncelli GI, Simi P, Rossi S, Sagesse G...

... with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998). J Clin Endocrinol Metab 2002;87:557-562. 8. Dimitropoulos A, Molinari L, Etter K, Torresani T, Lang-Muritano M, Jenni OG, Largo RH, Latal B: Children with congenital hypothyroidism: long-term intellectual...

... by Torresani, this vol., pp. 44-49]. Since the children currently identified by newborn screening usually receive larger doses than those diagnosed earlier, they are considered to be in optimal care. Nevertheless, a summary of recent studies on optimally treated children (table 1 ) signifies IQ reductions...

... A, Molinari L, Etter K, Torresani T, Lang-Muritano M, Jenni OG, Largo RH, Latal B: Children with congenital hypothyroidism: Long-term intellectual outcome after early high-dose treatment. Pediatr Res 2009;65:242-248. 141. Albert BB, Heather N, Derraik JG, Cutfield WS, Wouldes T, Trequrtha S, Mathai S...

...: Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. J Clin Endocrinol Metab 2008;93:4894. 96. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, Polak M, Butler G; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus...

.... Albano D, Bertagna F, Panarotto MB, Giubbini R: Early and late adverse effects of radioiodine for pediatric differentiated thyroid cancer. Pediatr Blood Cancer 2017, Epub ahead of print. 27. Leger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, et al: European Society for Paediatric...

.... Nat Genet 2010;42:707-710. 170. Jiang M, Aittomäki K, Nilsson C, Pakarinen P, Iitia A, Torresani T, Simonsen H, Goh V, Pettersson K, de la Chapelle A, et al: The frequency of an inactivating point mutation (566C->T) of the human follicle-stimulating hormone receptor gene in four populations...

...-79. 32. Illig R, DeCampo C, Lang-Muritano MR, Prader A, Torresani T, Werder EA, Willi U, Schenkel L: A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17 beta-oestradiol. Eur J Pediatr 1990;150:86-91. 33. O'Connell MB: Pharmacokinetic and pharmacologic...