Evaluation of pituitary imaging in patients with PROP-1 gene mutation

Tkacenko, Natalija; Lašienė, Danutė Teresė; Jakštienė, Silvija; Basevičius, Algidas; Verkauskienė, Rasa

doi:10.3390/medicina45090090

Cited by 4 publications

(2 citation statements)

References 17 publications

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“…For example. PROP1 mutation needs to be considered in a patient with multiple pituitary hormone deficiency with an intact pituitary stalk and posterior pituitary [47]. In patients with septo-optic dysplasia, a HESX1 mutation should be investigated, although it has been recently shown that HESX1 mutations cause variable clinical features in patients and can also be seen in patients without septo-optic dysplasia [48].…”

Section: Investigation Of Suspected Hypopituitarismmentioning

confidence: 99%

Genetic causes of hypopituitarism

Parkin

Kapoor

Bhat

et al. 2020

aoms

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Hypopituitarism in neonates is rare, but has life-threatening complications if untreated. This review describes the features of hypopituitarism and the evidence for which infants in whom a genetic cause should be suspected. Importantly, neonates are often asymptomatic or present with non-specific symptoms. Hypopituitarism can be due to abnormal gland development as a result of genetic defects, which result from mutations in gene coding for transcription factors which regulate pituitary development. The mutations can be divided into those causing isolated hypopituitarism or those causing syndromes with associated hypopituitarism. The latter involve mutations in transcription factors which regulate pituitary, as well as extra-pituitary development. There is a paucity of evidence as to which patients should be investigated for genetic mutations, but detailed clinical and biochemical phenotyping with magnetic resonance imaging of the pituitary gland could help target those in whom genetic investigations would be most appropriate.

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Section: Investigation Of Suspected Hypopituitarismmentioning

confidence: 99%

Genetic causes of hypopituitarism

Parkin

Kapoor

Bhat

et al. 2020

aoms

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“…The hypothesis of a PROP1 mutation has to be carefully considered in a patient with GH, TSH, prolactin and gonadotropin deficiency, especially when no alterations in the pituitary stalk or posterior hypophysis are detected at MRI. A further indication for the PROP1 gene study is the finding of an intracranial pseudo-tumor, which may be detected in more than 40% of the patients with this mutation during the first decade of life [ 13 , 14 ].…”

Section: Introductionmentioning

confidence: 99%

Congenital hypopituitarism: how to select the patients for genetic analyses

et al. 2018

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Aim of this commentary is to analyze the relationships between genotypic bases and phenotypic expression of congenital “multiple pituitary hormone deficiency” (MPHD) syndrome and to indicate some reliable criteria for selecting the patients who should undergo genetic analyses in order to clarify the etiology of their disorder.On the basis of the most recent reports on this topic, it is possible to infer that: 1) in only few patients with congenital MPHD it is possible to detect a causative gene mutation; 2) therefore, it is fundamental to define some criteria for selecting the patients who should undergo genetic analyses; 3) such inclusion criteria should be based on the overall evaluation of hormonal clinical and neuroradiological phenotype; 4) it is crucial to consider whether the cases are sporadic or familial, since the probability of finding a causative gene mutation is distinctly higher in familial cases; 5) for PROP1 gene it is also important to consider the geographical origin of the patients, because this mutation is much more frequent in some ethnic groups.

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Mutations and Pituitary Morphology in a Series of 82 Patients with <i>PROP1</i> Gene Defects

Obermannová

Pfaeffle²,

Zygmunt-Górska³

et al. 2011

Horm Res Paediatr

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Background/Aims: Defects of the PROP1 gene are the most prevalent genetic cause of combined pituitary hormone deficiency. Previous observations in affected patients have shown pituitary size ranging from hypoplasia to overt pituitary mass and evolution of size over the lifespan. Methods: We evaluated pituitary size and morphology in PROP1-mutation carriers who originated from Central and Eastern Europe. We analyzed 112 pituitary magnetic resonance imaging (MRI) scans from 82 patients (42 males) aged 2.5–72.7 (median 16.6) years from 60 kindreds. Results: Among the 120 independent PROP1 alleles, the most prevalent mutations were delGA301/302 (99 alleles) and delA150 (13 alleles). Median pituitary height at first MRI was 4.7 mm (range 1.0–20.7) and median volume was 127.6 mm³ (range 7.5–3,087.0). Pituitary size did not differ between sexes and did not correlate with hormonal phenotype, but significantly decreased with increasing age. However, evaluation of individual values suggested a biphasic mode with increasing volume during childhood, peak in adolescence, and subsequent regression in adulthood. Conclusion: Although pituitary size was increased in a number of PROP1-deficient patients, none of them suffered permanent damage from pituitary mass; therefore, any proposed surgery should be postponed as long as possible and ultimately may not be necessary due to the self-limiting nature of the pituitary enlargement.

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Evaluation of pituitary imaging in patients with PROP-1 gene mutation

Abstract: Medicina (Kaunas) 2009; 45(9) Adresas susirašinėti: N.

Cited by 4 publications

References 17 publications

Genetic causes of hypopituitarism

Genetic causes of hypopituitarism

Congenital hypopituitarism: how to select the patients for genetic analyses

Mutations and Pituitary Morphology in a Series of 82 Patients with <i>PROP1</i> Gene Defects

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