|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
We report a 20-year-old man who developed bilateral osteonecrosis of the hip following 6 years of low-dose steroid replacement therapy for panhypopituitarism secondary to a transsphenoidal resection of a growth hormone-secreting pituitary macroadenoma.
|
30765453 |
2019 |
|
Panhypopituitarism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In vitro studies showed that the <i>POU1F1</i> c.605delC mutation codes for a truncated protein with reduced transactivation capacity on its downstream effectors, viz., growth hormone (<i>GH</i>) and prolactin (<i>PRL</i>) causing severe CPHD.
|
31022740 |
2019 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
The current meta-analysis aims at evaluating whether the existing clinical evidence may ascertain the effects of growth hormone (GH) replacement therapy on cardiovascular risk, both in isolated GH deficiency (GHD) and in compensated panhypopituitarism including GH deficit.
|
28925898 |
2017 |
|
Panhypopituitarism
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Serum insulin-like growth factor-1 and peak growth hormone (GH) levels following GH stimulation tests were significantly lower in patients with CPHD than in those with IGHD (p<0.05).
|
28332357 |
2017 |
|
Panhypopituitarism
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Variation affecting the production, release and functional activity of GH leads to growth hormone deficiency (GHD), which is of two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD).
|
27114065 |
2016 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Growth hormone deficiency (GHD) results from variations affecting the production and release of growth hormone (GH) and is of 2 types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD).
|
27756091 |
2016 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in PROP1 are the most frequent defect detected in patients with combined pituitary hormone deficiency (MIM #262600), characterized by a clinical phenotype of proportionate growth deficit due to impaired production of growth hormone in combination with deficiency of one or more of the additional anterior pituitary hormones.
|
23831233 |
2013 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Response to growth hormone therapy in adolescents with familial panhypopituitarism.
|
20431169 |
2010 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore, abnormalities of the POU1F1 gene are known to be responsible for a phenotype causing combined pituitary hormone deficiency (CPHD) involving growth hormone, prolactin and thyrotropin.
|
18059085 |
2008 |
|
Panhypopituitarism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
For example, dominant and recessive mutations in HESX1 may be associated with septo-optic dysplasia, combined pituitary hormone deficiency (CPHD) and isolated growth hormone (GH) deficiency.
|
18174732 |
2007 |
|
Panhypopituitarism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, these two siblings of different sexes with CPHD carrying the 301-302delAG mutation in the Prop1 gene presented a variable phenotype characterized by GH, TSH, LH and FSH deficiency.
|
17162714 |
2006 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Combined pituitary hormone deficiency (CPHD) corresponds to impaired production of growth hormone (GH) and other anterior pituitary hormones.
|
17526949 |
2006 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Any genetic or acquired disorder that impairs GH secretion or action causes a pathological phenotype characterized by harmonic short stature with isolated GH deficiency (IGHD) or combined pituitary hormone deficiency (CPHD).
|
15339237 |
2004 |
|
Panhypopituitarism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Combined pituitary hormone deficiency (CPHD), including growth hormone (GH), prolactin (Prl) and thyroid-stimulating hormone (TSH) in children is now considered a heterogeneous syndrome.
|
11081182 |
1998 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH) and one or more of the other five anterior pituitary hormones.
|
9462743 |
1998 |
|
Panhypopituitarism
|
0.100 |
GeneticVariation
|
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 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the Pit-1 gene result in insufficient expression of this factor, accounting for a form of combined pituitary hormone deficiency for growth hormone (GH), prolactin, and thyroid-stimulating hormone.
|
8805025 |
1996 |
|
Panhypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
The third acromegalic brother had a normal GH value and evidence of panhypopituitarism; he had a small intrasellar tumor and a partially empty sella.
|
3950729 |
1986 |