Clinical and Biochemical Phenotype of Familial Anterior Hypopituitarism from Mutation of the PROP1 Gene1

Rosenbloom, Arlan L.; Almonté, Antonio Selman; Brown, Milton R.; Fisher, Delbert A.; Baumbach, Lisa; Parks, John S.

doi:10.1210/jcem.84.1.5366

Cited by 39 publications

(6 citation statements)

References 26 publications

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“…MRI of the pituitary gland in patients with PROP-1 mutations showed either normal findings, a small pituitary gland or an enlargement of the sella turcica with suprasellar extension of a pituitary mass [12, 22, 23, 24, 25]. The different imaging protocols in our patients did not allow volumetric calculation of the anterior pituitary volumes.…”

Section: Discussionmentioning

confidence: 67%

“…Mutations of PROP-1 , a paired-like homeodomain transcription factor, have been recently reported as a cause of CPHD [5, 6, 7, 8, 9, 16]. Patients with these mutations suffer from GH, PRL, TSH, LH and FSH deficiencies [12]. …”

Section: Discussionmentioning

confidence: 99%

“…The clinical phenotypes vary within different gene mutations, but also among siblings with the same mutation [7, 12]. The disorder is inherited in an autosomal recessive manner.…”

Section: Introductionmentioning

confidence: 99%

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Familial Combined Pituitary Hormone Deficiency Caused by PROP-1 Gene Mutation

Crone

Pfäffle²,

Stobbe³

et al. 2002

Horm Res Paediatr

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Background: Mutations of the prophet of PIT-1 (PROP-1), a paired-like homeodomain transcription factor which is responsible for early embryonic pituitary development, have recently been reported as a cause of combined pituitary hormone deficiency. Methods: We describe the phenotype, long-term auxological data and MRI findings in two families with 4 affected members, all of whom have a mutation of the PROP-1 gene. GH, TSH, PRL, LH and FSH were completely deficient in all patients. Results: ACTH deficiency was not diagnosed until the 3rd or 4th decades of life. Pituitary MRI showed an empty sella in 2 subjects, but unspecific tissue accumulation resembling a pituitary mass lesion in another patient. The affected boy from family II who was continuously treated with all the necessary hormones reached the familial target height. However, the 3 subjects in family I were only treated sporadically (GH treatment lasting from 1 to 3 years). Conclusion: Despite this insufficient therapy, final height was in the lower normal range. Longitudinal growth continued up to the age of 40 years in these subjects.

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Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 99%

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Familial Combined Pituitary Hormone Deficiency Caused by PROP-1 Gene Mutation

Crone

Pfäffle²,

Stobbe³

et al. 2002

Horm Res Paediatr

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“…There seems to be no significant difference in the size of the pituitary gland in patients with PIT-1 mutations versus those with PROP-1 mutations [43]. Some authors have reported intra- or parasellar masses leading to sellar enlargement in patients with PROP-1 defects [44, 45]. The nature of these spontaneously regressing masses is still a matter of debate.…”

Section: Factors Affecting Pituitary Organogenesismentioning

confidence: 99%

Idiopathic Growth Hormone Deficiency: A Vanishing Diagnosis?

Pfäffle

Blankenstein²,

Wüller³

et al. 2000

Horm Res Paediatr

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Some non-organic causes for growth hormone (GH) deficiency (GHD) can be attributed to genetic defects within the hypothalamo-pituitary axis. Using modern molecular biology techniques micromutations within the GH and GH-releasing hormone receptor genes have been detected as a rare cause of isolated GHD. Combined pituitary hormone deficiencies (CPHD), on the other hand, are associated with defects that manifest during the organogenesis of the anterior pituitary gland. In recent years an increasing number of patients with CPHD has been reported, showing mutations within pituitary transcription factors Pit-1, Prop-1 and HesX1. Such defects can be observed with different frequencies in patients. Some disorders, such as CPHD due to Pit-1 mutations, display a hormonal phenotype that seems more or less invariable. In most other forms of genetic CPHD both the combination and severity of anterior pituitary hormone deficiencies vary considerably. Ongoing research concentrates on factors involved in the differentiation and proliferation of cells that belong to the hypothalamo-pituitary growth axis. As not every possible candidate turns out to be a frequent cause of GHD or CPHD in humans, it will be many more years before the term ‘idiopathic’ becomes a vanishing attribute to the clinical diagnosis of pituitary insufficiency.

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“…However, there is a great phenotypic variability among patients with PROP1 gene mutations causing CPHD (6,7). Growth hormone deficiency occurs most commonly, but growth retardation can be modest or severe.…”

Section: Introductionmentioning

confidence: 99%

High prevalence of PROP1 gene mutations in hungarian patients with childhood-onset combined anterior pituitary hormone deficiency

Halász

Tőke

Patócs

et al. 2006

Endocr

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Combined pituitary hormone deficiency is characterized by the impaired production of pituitary hormones, commonly including growth hormone. The pathomechanism of the childhood-onset form of this disorder may involve germline mutations of genes encoding pituitary transcription factors, of which PROP1 gene mutations have been studied most extensively. However, controversy exists about the significance of PROP1 gene mutations, as both low and high frequencies have been reported in these patients. Because the different results may be related to differences in patient populations and/or the variability of clinical phenotypes, we performed the present study to examine the prevalence and spectrum of PROP1 gene mutations in 35 patients with non-acquired childhood-onset growth hormone deficiency combined with at least one other anterior pituitary hormone deficiency. Genetic testing indicated the presence of disease-causing mutations in exons 2 and 3 of the PROP1 gene in 15 patients (43% of all patients; homozygous mutations in 10 patients and compound heterozygous mutations in 5 patients). Comparison of clinical data of patients with and without PROP1 gene mutations failed to show significant differences, except an earlier growth retardation detected in patients with PROP1 gene mutations. In one patient with PROP1 gene mutation, radiologic imaging showed an enlargement of the anterior lobe of the pituitary, whereas the other patients had hypoplastic or normal pituitary gland. All patients with PROP1 gene mutations had normal posterior pituitary lobe by radiologic imaging. These results indicate that using our inclusion criteria for genetic testing, PROP1 gene mutations can be detected in a high proportion of Hungarian patients with non-acquired childhood-onset growth hormone deficiency combined with at least one other anterior pituitary hormone defect.

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Clinical and Biochemical Phenotype of Familial Anterior Hypopituitarism from Mutation of the PROP1 Gene¹

Cited by 39 publications

References 26 publications

Familial Combined Pituitary Hormone Deficiency Caused by <i>PROP-1</i> Gene Mutation

Familial Combined Pituitary Hormone Deficiency Caused by <i>PROP-1</i> Gene Mutation

Idiopathic Growth Hormone Deficiency: A Vanishing Diagnosis?

High prevalence of PROP1 gene mutations in hungarian patients with childhood-onset combined anterior pituitary hormone deficiency

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