Secondary hypothyroidism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Anti-PIT-1 antibody syndrome, firstly reported in 2011, is characterized by acquired GH, PRL, and TSH deficiencies without PIT-1 mutation and is associated with the presence of the circulating antibody against PIT-1 protein as a marker.
|
28245453 |
2017 |
Secondary 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 |
Secondary 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 |
Secondary hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Studies on Snell and Jackson mice known to have growth hormone, prolactin and thyroid-stimulating hormone deficiencies involving the hypoplastic pituitary gland have led to identifying alterations of the pituitary specific POU homeodomain Pit-1 transcription factor gene.
|
16879162 |
2006 |
Secondary hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Most of the affected individuals manifest GH, prolactin, and TSH deficiency.
|
15928241 |
2005 |
Secondary 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 |
Secondary hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic abnormalities of the pituitary specific transcription factor, Pit-1, have been reported in several patients with GH, prolactin (PRL) and TSH deficiencies.
|
12773133 |
2003 |
Secondary 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 |
Secondary 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 |
Secondary hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
These patients present extreme short stature, GH, PRL and TSH deficiency but intact ACTH, LH and FSH secretion.The pituitary is usually hypoplastic.
|
9699131 |
1998 |
Secondary hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
All had complete GH deficiency and complete or partial Prl and TSH deficiency.
|
9632165 |
1998 |
Secondary hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
These patients present extreme short stature, GH, PRL and TSH deficiency but intact ACTH, LH and FSH secretion.The pituitary is usually hypoplastic.
|
9438923 |
1997 |
Secondary hypothyroidism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Interestingly, both recessive and dominant mutations at the gene encoding for the pituitary transcription factor Pit-1 have been found in a specific subtype of PD that combines GH, prolactin and TSH deficiencies.
|
7868072 |
1994 |
Secondary 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 |
Secondary 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 |