Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the <i>POU1F1</i> gene are characterized by growth hormone (GH), thyrotropin, and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism.
|
31316460 |
2019 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Central hypothyroidism was diagnosed at the age of 2 months and GH and PRL deficiencies were documented at 9 months.
|
21521297 |
2011 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
LHX3 mutations are associated with growth hormone, prolactin, gonadotropin, and TSH deficiency; abnormal pituitary morphology; and may be accompanied with limited neck rotation and sensorineural hearing loss.
|
21249393 |
2011 |
Central hypothyroidism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations within POU1F1 are associated with GH, TSH and PRL deficiencies, with the TSH deficiency being highly variable.
|
18174732 |
2007 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Most of the affected individuals manifest GH, prolactin, and TSH deficiency.
|
15928241 |
2005 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
The genetic abnormalities include mutations within: (1) Hesx1 (IGHD, SOD or CPHD); (2) Lhx3 (CPHD with preservation of cortisol secretion and a short stiff neck); (3) Lhx4 (GH, TSH and ACTH deficiency with cerebellar hypoplasia); (4) Prop1 (variable CPHD often associated with pituitary masses); (5) POU1F1 (GH, prolactin and TSH deficiency); (6) GHRHR (IGHD) and (7) GH1 (IGHD).
|
12914740 |
2003 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pit-1 gene mutations result in complete growth hormone (GH) and PRL deficiencies and variable degrees of TSH deficiency, producing the clinical syndrome of combined pituitary hormone deficiency (CPHD).
|
9588494 |
1998 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
They had evidence of growth hormone, prolactin and gonadotropin deficiencies and developed central hypothyroidism late in life.ACTH secretion was normal.
|
9699131 |
1998 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
All had complete GH deficiency and complete or partial Prl and TSH deficiency.
|
9632165 |
1998 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
We report a child whose hypothyroidism was recognized clinically at age 6 weeks, and subsequently found to have GH and Prl as well as TSH deficiency.
|
9485179 |
1998 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
They had evidence of growth hormone, prolactin and gonadotropin deficiencies and developed central hypothyroidism late in life.ACTH secretion was normal.
|
9438923 |
1997 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Studies of kindreds with GH, Prl and TSH deficiency have disclosed a variety of mutations in the Pit-1 gene.
|
8300051 |
1993 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Four out of 10 children in two unrelated families presented with a total pituitary growth hormone (GH) and prolactin deficiency and a partial thyrotropin (TSH) deficiency.The GH gene was intact in family I.
|
2634610 |
1989 |