Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Purpose
The number of international acromegaly related registries is increasing; however, heterogeneity of acromegaly symptoms and signs across countries is not well described. We compared clinical disease manifestations at diagnosis between two large University referral centers from two continents.
Methods
Retrospective, comparative epidemiological study of acromegaly patients at two centers: (i) C. I. Parhon National Institute of Endocrinology, 'Carol Davila' University of Medicine and Pharmacy Bucharest, Romania (Parhon), and (ii) Pituitary Center, Oregon Health & Science University, Portland, Oregon, United States (OHSU) from approved data repositories was undertaken. Data were extracted from medical charts and questionnaires. Binary logistic regression analysis was undertaken for the most frequently noted symptoms and clinical signs.
Results
The study included 216 patients (87 Parhon, 129 OHSU). Age, sex, and median delay in diagnosis were similar between centers. IGF-1 index was higher in patients at Parhon (3.3 vs 2.1, P < 0.001). The top five symptoms at both centers were enlarged hands/feet, headache, arthralgia, fatigue, and irregular menses in women. A significant difference was noted for multiple signs and symptoms frequency, often > 20 percentage points between centers. Center was a predictor of many signs and symptoms, independent of acromegaly biochemical severity or disease duration.
Conclusion
We show in the first comparative study that differences in medical practice, documentation, and likely cultural differences can influence patients’ symptom(s) reporting and screening patterns in geographically different populations. Pooling data into large multicenter international registry databases may lead to loss of regional characteristics and thus a mixed overall picture of combined cohorts.
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Objective
Recently, mutations in KCNQ1, a potassium channel gene usually linked to long QT syndrome, were reported to cause maternally inherited gingival fibromatosis and growth hormone deficiency (GHD). Expression of the mutated KCNQ1 with the auxiliary potassium channel subunit KCNE2 was shown to reduce pituitary hormone secretion in functional experiments. Here, we investigated if germline mutations in KCNQ1 and KCNE2 were present in patients with somatotropinomas, which represent a model of growth hormone excess.
Design and methods
KCNQ1 and KCNE2 were screened for germline mutations in 53 patients with acromegaly by Sanger sequencing. Effects of the variants were predicted by in silico tools.
Results
Only deep intronic and synonymous polymorphisms were detected in KCNQ1. These findings were likely insignificant based on in silico predictions and the variants’ frequencies in the general population. In KCNE2, a heterozygous c.22A>G, p.(Thr8Ala) mutation with unknown significance was found in three patients. It was present in the database controls with a frequency of 0.0038.
Conclusions
KCNQ1 or KCNE2 mutations do not appear to account for somatotropinoma formation, although larger patient series are needed to validate the findings.
School of Medicine, Western Sydney University, Sydney, Australia
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Westmead Clinical School, University of Sydney, Sydney, Australia
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Westmead Clinical School, University of Sydney, Sydney, Australia
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Department of Neurosurgery, Westmead Hospital, Sydney, Australia
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School of Medicine, Western Sydney University, Sydney, Australia
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. Conclusion We outline the clinicopathological features of a rare PitNET subtype co-expressing PIT1 and SF1. This subgroup of tumours often caused growth hormone excess clinically and highly expressed SSTR in our study. There was no evidence of tumour
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in MAS are complex and may be affected by multiple confounders such as skeletal deformities and other endocrinopathies. The latter include hyperthyroidism and growth hormone excess, which may accelerate growth, as well as Cushing syndrome, which may
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quality of life in patients with acromegaly despite long-term cure of growth hormone excess . Journal of Clinical Endocrinology and Metabolism 2004 89 5369 – 5376 . ( doi:10.1210/jc.2004-0669 ) 11 Carmichael J. Lanreotide depot deep
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-representative fraction of the entire group of patients diagnosed with hypogonadotropic hypogonadism at our department ( n = 409). The participants in the study were significantly younger and comprised a large fraction of patients with growth hormone excess, which might
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and an effect of bromocriptine on GH and TSH secretion . Endocrinologia Japonica 1984 31 801 – 807 . ( https://doi.org/10.1507/endocrj1954.31.801 ) 12 Hussein Z Tress B & Colman PG . A combined case of macroprolactinoma, growth hormone
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Diabetes Center, Faculty of Medicine, University of Geneva, Geneva, Switzerland
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( 123 ). Growth hormone excess Acromegaly is caused by the overproduction of GH and, consequently, IGF-1, and it is most often the result of somatotroph adenomas. Excess GH secretion results in deleterious effects on glucose metabolism and
