INVESTIGADORES
CHIESA Ana Elena
artículos
Título:
Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH) Endocrine 08/2011; 41(1
Autor/es:
CHIESA A, ; OLCESE M C; PAPENDIECK P; MARTINEZ A; VIEITES A,; BENGOLEA S; TARGOVNIK H M ,; RIVOLTA CM; GRUñEIRO-PAPENDIECK L,
Revista:
ENDOCRINE
Editorial:
HUMANA PRESS INC
Referencias:
Lugar: Oregon; Año: 2011 vol. 41 p. 130 - 137
ISSN:
0969-711X
Resumen:
Resistance to thyroid hormone (RTH) is characterized
by elevated levels of thyroid hormones, normal or
slightly increased TSH levels respondent to TRH, resistance
to thyroid hormone administration, and variable clinical
expression. To describe the diverse clinical and biochemical
findings of six children from five unrelated families with
molecular diagnosis of RTH (0.512.7 years) and their
follow-up (320 years). All RTH patients and 4 affected
parents harbored mutations in exons 9 or 10 of the thyroid
receptor b gene: p.M313T (de novo), pN331D, p.L341P,
p.L346F, and p.P453L. At consultation 5/6 had goiter, 4/6
tachycardia, and 3/5 learning disabilities. Median hormone
levels were: T4 257.4 nmol/l (NR: 77.2180.2); FreeT4
39.9 pmol/(NR:10.328.3); T3 4.28 nmol/l (NR:1.233.39)
TSH 2.8 mUI/l (NR: 0.55) always responsive to TRH. TSH
levels remained detectable after supraphysiologic T3
administration while SHBG levels showed a paradoxical
decrease in 4/6. Thyroid antibodies, initially present in two
subjects, became positive in other two during follow-up. All
patients grew normally and presented variable symptoms
that were treated according to need. Two patients developed
psychiatric disorders. Only one of the four affected parents
exhibited clinical signs of RTH (tachycardia and depression).
Parents thyroid profile showed similar TSH and T3
levels but lower T4 and FT4 than their children. RTH has a
distinctive biochemical profile with highly variable clinical
manifestations and outcomes. Its recognition and molecular
characterization avoid misleading diagnosis. Treatment has
to be instituted according to each subjects own clinical
requirements