ABSTRACT
BACKGROUND/AIMS: In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing GH1, GHR, STAT5B, IGF1, and IGFALS in children with GH insensitivity. SUBJECTS AND METHODS: Patients were divided into three groups: group 1 (height SDS <-2.5, IGF-I <-2 SDS, n = 9), group 2 (height SDS -2.5 to -1.9, IGF-I <-2 SDS, n = 6) and group 3 (height SDS <-1.9, IGF-I -2 to 0 SDS, n = 21). An IGF-I generation test was performed in 11 patients. Genomic DNA was used for direct sequencing, multiplex ligation-dependent probe amplification and whole-genome SNP array analysis. RESULTS: Three patients in group 1 had two novel heterozygous STAT5B mutations, in two combined with novel IGFALS variants. In groups 2 and 3 the association between genetic variants and short stature was uncertain. The IGF-I generation test was not predictive for the growth response to GH treatment. CONCLUSION: In severely short children with IGF-I deficiency, genetic assessment is advised. Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with GH insensitivity. In children with less severe short stature or IGF-I deficiency, functional variants are rare.
Subject(s)
Carrier Proteins/genetics , Glycoproteins/genetics , Growth Disorders/genetics , Human Growth Hormone/deficiency , Insulin-Like Growth Factor I/deficiency , STAT5 Transcription Factor/genetics , Child , Child, Preschool , Female , Human Growth Hormone/genetics , Humans , Infant , MaleABSTRACT
A 74-year-old man suffering from hypertension had transient loss of strength in his left arm and leg. His severe hypertensive spells were caused by high-pressure chronic bladder retention. The patient had benign hyperplasia of the prostate for which transvesical enucleation was performed. The blood pressure then returned to normal. The transient neurological deficits had probably been caused by the abrupt blood pressure changes. In older male patients the possibility of this reversible cause of hypertension should be kept in mind.
Subject(s)
Hypertension/etiology , Muscle Weakness/etiology , Prostatic Hyperplasia/complications , Urinary Retention/complications , Aged , Humans , Ischemic Attack, Transient/etiology , Male , Prostate-Specific Antigen/blood , Prostatectomy , Prostatic Hyperplasia/diagnosis , Prostatic Hyperplasia/surgery , UrodynamicsABSTRACT
RS3PE syndrome was diagnosed in a 83-year-old man with seronegative symmetrical polysynovitis with pitting oedema, which presented after a vehement acute beginning a remarkably favourable course. RS3PE syndrome, recently described, is characterized by a transient seronegative symmetrical synovitis with pitting oedema. The syndrome appears mainly in the aged. After a frequently acute crippling beginning, the prognosis is good. Plain and brief treatment will suffice.
Subject(s)
Edema/complications , Synovitis/complications , Adult , Aged , Aged, 80 and over , Diagnosis, Differential , Edema/diagnosis , Female , Humans , Male , Middle Aged , Periarthritis/complications , Periarthritis/diagnosis , Remission, Spontaneous , Synovitis/diagnosisABSTRACT
Spontaneous hypoglycaemia in renal failure occurs more frequently than is considered generally. The pathogenesis is complex. Understanding the underlying mechanisms is of interest to all practitioners attending patients with renal failure. A case report is presented describing a patient with 'spontaneous' hypoglycaemia, without any illness other than renal failure. The various mechanisms contributing to or causing hypoglycaemia are reviewed.
