Literatur
- 1
Doerr H, Dötsch J.
Autoimmunthyreopathien bei Kindern und Jugendlichen.
Monatsschr Kinderheilkd.
2008;
156
987-993
- 2
Stoppa-Vaucher S, Francoeur D, Grignon A et al.
Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment.
J Pediatr.
2010;
156
1026-1029
- 3 Pohlenz J, van Vliet G eds. Developmental Abnormalities of the Thyroid.. 1 ed. Weiss R E,
Refetoff S ed. Oxford: Elsevier; 2010: 97-104
- 4
Sunthornthepvarakui T, Gottschalk M E, Hayashi Y et al.
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor
gene.
N Engl J Med.
1995;
332
155-160
- 5
Asmus F, Horber V, Pohlenz J et al.
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
Neurology.
2005;
64
1952-1954
- 6
Pohlenz J, Dumitrescu A, Zundel D et al.
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological
defects in humans and mice.
J Clin Invest.
2002;
109
469-473
- 7
Clifton-Bligh R J, Wentworth J M, Heinz P et al.
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft
palate and choanal atresia.
Nat Genet.
1998;
19
399-401
- 8
Castanet M, Park S M, Smith A et al.
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism,
thyroid agenesis and cleft palate.
Hum Mol Genet.
2002;
11
2051-2059
- 9
Baris I, Arisoy A E, Smith A et al.
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital
hypothyroidism but not athyreosis.
J Clin Endocrinol Metab.
2006;
91
4183-4187
- 10
Al Taji E, Biebermann H, Limanova Z et al.
Screening for mutations in transcription factors in a Czech cohort of 170 patients
with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation
in dominantly inherited early-onset non-autoimmune hypothyroidism.
Eur J Endocrinol.
2007;
156
521-529
- 11
Meeus L, Gilbert B, Rydlewski C et al.
Characterization of a novel loss of function mutation of PAX8 in a familial case of
congenital hypothyroidism with in-place, normal-sized thyroid.
J Clin Endocrinol Metab.
2004;
89
4285-4291
- 12
Dentice M, Cordeddu V, Rosica A et al.
Missense mutation in the transcription factor NKX2 – 5: a novel molecular event in
the pathogenesis of thyroid dysgenesis.
J Clin Endocrinol Metab.
2006;
91
1428-1433
- 13
van Trotsenburg A S, Vulsma T, van Rozenburg-Marres S L et al.
The effect of thyroxine treatment started in the neonatal period on development and
growth of two-year-old Down syndrome children: a randomized clinical trial.
J Clin Endocrinol Metab.
2005;
90
3304-3311
- 14
Hishinuma A, Fukata S, Kakudo K et al.
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.
Thyroid.
2005;
15
1079-1084
- 15
Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C et al.
Clinical and genetic characteristics of congenital hypothyroidism due to mutations
in the thyroid peroxidase (TPO) gene in Israelis.
Clin Endocrinol (Oxf).
2007;
66
695-702
- 16
Grasberger H.
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism.
Mol Cell Endocrinol.
2010;
322
99-106
- 17
Grasberger H, Refetoff S.
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic
operon equivalent.
J Biol Chem.
2006;
281
18 269-18 272
- 18
Pohlenz J, Refetoff S.
Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport
defects and congenital hypothyroidism.
Biochimie.
1999;
81
469-476
- 19
Partsch C J, Riepe F G, Krone N et al.
Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation
of the TSH beta subunit gene: case report and review of the literature.
Exp Clin Endocrinol Diabetes.
2006;
114
227-234
- 20
Brumm H, Pfeufer A, Biebermann H et al.
Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation
is caused by a Founder effect.
J Clin Endocrinol Metab.
2002;
87
4811-4816
- 21
Duprez L, Parma J, VanSande J et al.
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal
dominant hyperthyroidism.
Nat Genet.
1994;
7
396-401
- 22
Kopp P, van Sande J, Parma J et al.
Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor
gene.
N Engl J Med.
1995;
332
150-154
- 23
Refetoff S, Weiss R E, Usala S J.
The syndromes of resistance to thyroid hormone.
Endocr Rev.
1993;
14
348-399
- 24
Dumitrescu A M, Liao X H, Best T B et al.
A novel syndrome combining thyroid and neurological abnormalities is associated with
mutations in a monocarboxylate transporter gene.
Am J Hum Genet.
2004;
74
168-175
- 25
Fisher D A, Schoen E J, La Franchi S et al.
The hypothalamic-pituitary-thyroid negative feedback control axis in children with
treated congenital hypothyroidism.
J Clin Endocrinol Metab.
2000;
85
2722-2727
- 26
Selva K A, Harper A, Downs A et al.
Neurodevelopmental outcomes in congenital hypothyroidism: comparison of initial T4
dose and time to reach target T4 and TSH.
J Pediatr.
2005;
147
775-780
- 27
Rivkees S A, Mattison D R.
Ending propylthiouracil-induced liver failure in children.
N Engl J Med.
2009;
360
1574-1575
Univ.-Prof. Dr. Joachim Pohlenz
Zentrum für Kinder- und Jugendmedizin Universitätsmedizin Mainz
Langenbeckstraße 1
55101 Mainz
Telefon: 06131/171
eMail: pohlenz@uni-mainz.de