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Background: In this cross-sectional study, we aimed to evaluate auxological measurements and detailed body proportions of recombinant human growth hormone (GH)-treated patients with Turner syndrome (TS) and compare them with a group of healthy females. Materials and methods: We evaluated 42 patients with TS who received GH treatment and 20 healthy controls. Anthropometric measurements were taken and target height, body mass index (BMI), arm span-height difference, extremity-to-trunk ratio, and Manouvrier's skelic index were calculated. Results: The median (min-max) age of the patients at the time of evaluation was 13.6 (4.3-20.7) years, and the control group was 12.9 (3.8-23.7) years. Height, sitting height, and arm span of TS patients were significantly lower than those of the control group. Sitting height/height ratio (SHR) was in normal ranges in both groups and BMI was significantly higher in TS patients when compared to the control group. According to Manouvrier's skelic index, TS patients had shorter legs than the control group (p = 0.001). The extremity-trunk ratio was significantly decreased in TS patients compared to healthy controls (p < 0.001). There was no significant difference between the karyotype groups in terms of these indexes. Conclusion: TS patients had short stature, increased BMI and waist circumference, normal head circumference, and decreased extremity-trunk ratio. Sitting height and leg length were short; however, the SHR standard deviation score (SDS) was in the normal range. Despite being treated with GH, TS patients had disproportionate short stature. The disproportion in TS patients was similar to short-stature homeobox-containing gene (SHOX) deficiency, which is considered to be SHOX haploinsufficiency in the etiopathogenesis of short stature. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to describe the characteristics and the aetiological profile of patients with growth hormone deficiency (GHD) Material and Method: Among randomly selected 320 cases with short stature with a height SDS<-3SD, 203 patients with diagnosis of GHD were evaluated with respect to their characteristics at diagnosis. Results: 86 patients (42.4%) had idiopathic GHD, 79 patients (39%) had congenital GHD, 14 patients (6.9%) had defined syndromes with GHD and 10 patients (5%) had acquired GHD. Number of patients with isolated GHD was 154 (81.5%) and with multiple pituitary hormone deficiency (MPHD) was 35 (18.5%) among classified cases. The most common accompanying hormone deficiency was TSH deficiency in GHD aetiologies with MPHD. Hypophyseal pathologies were most commonly seen in congenital and acquired GHD cases. Noonan syndrome was the most common syndrome with an accompanying GHD. The bone age delay was found to be over 2 years in congenital GHD. The mean IGF-1 SD score and the mean peak growth hormone stimulation tests’ values were significantly low in congenital GHD. Conclusions: Precise assessment of auxological, clinical and laboratory data could provide substantial value in the evaluation of severely short statured children with GHD. [ABSTRACT FROM AUTHOR]

Objective: Idiopathic short stature (ISS) is a heterogeneous disorder. An impairment of growth hormone (GH)/insulin-like growth factor 1 (IGF-1)/IGF-1 receptor (IGF-1 R) axis is postulated. To evaluate the somatotropic axis in relation to body mass index (BMI), serum IGF-1, IGF-binding protein-3 (IGFBP-3) and the expression of IGF-1 R genes in patients with ISS. Methods: Fifty-five ISS patients (24F/31M) aged 14.6±5.5 years (range 3.5-28.5 years) and 25 BMI-and pubertal stage-matched peers were enrolled in the study. The ISS patients underwent a four-day standard GH stimulation test to evaluate IGF-1 generation. mRNA expression of the IGF-1 R gene in peripheral blood leukocytes was evaluated. ISS patients and controls were compared with respect to anthropometric and laboratory data. The results were also analyzed after subdividing the two groups into low-normal [BMI standard deviation score (SDS) between -2 to -1)] and normal (BMI SDS between -1 to +1) BMI subgroups. Results: Basal serum IGF-1 concentrations were lower in ISS subjects compared to controls who had similar BMI SDS values (p=0.000). Subgroup analyses revealed that there were no significant differences between low-normal BMI ISS subjects and low-normal BMI controls with respect to serum IGF-1 and IGFBP-3 concentrations. However, in the normal BMI ISS subgroup, basal and stimulated IGF-1 levels were significantly lower than the basal values in their control counterparts (basal: p=0.000; stimulated: p=0.007). mRNA expression of IGF-1 R gene was not found to be significantly different in ISS subjects and controls. Conclusions: ISS patients were found to have lower IGF-1 concentrations than BMI-matched peers, a finding supporting presence of an impairment in the somatotropic axis. IGF-1 R expression does not seem to be impaired in ISS patients. ISS patients with low-normal BMI SDS also tend to display a relative IGF-1 resistance, whereas those with normal BMI SDS tend to be less GHsensitive than healthy peers. [ABSTRACT FROM AUTHOR]

Background/Aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner's syndrome (TS) and the distribution of GHR exon 3 isoforms. Materials and Methods: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). Results: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Δheight velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. Conclusion: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: The exon 3-deleted/full-length (d3/fl) growth hormone receptor (d3/fl-GHR) polymorphism has been associated with responsiveness to GH therapy in some children and also with adult height variation in the general population. We aimed to evaluate the distribution of d3/fl-GHR polymorphism in a Turkish population. Methods: The study included 477 (54 females/423 males) healthy adults with a mean±SD age of 31.1±9.0 years (range: 18-57). Height and body mass index (BMI) were expressed as standard deviation score (SDS) according to national standards. All adults had normal height and BMI SDSs (between -2 and +2). GHR exon 3 isoforms were studied by simple multiplex polymerase chain reaction method. Insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) values were also measured and expressed as SDS. Results: The distribution of the GHR exon 3 genotypes in the Turkish healthy adults was 35% (n=167) for fl/fl, 39% (n=186) for fl/d3, and 26% (n=124) for d3/d3. There was no difference between genders in GHR exon 3 genotypes. Frequencies of fl allele and d3 allele were 54.5% and 45.5%, respectively. There were no differences in height SDS and BMI SDS among the three d3/fl-GHR genotype groups. There was a significant difference in IGFBP-3 SDS between fl/fl and fl/d3 groups (p=0.022). Conclusions: This study presents the results of GHR polymorphism in a Turkish population as a reference for further studies. The distribution was similiar to European populations. There were no correlations between GHR isoforms and height SDS or other clinical/biochemical characteristics of the individuals except for higher IGFBP-3 levels in the fl/d3 group as compared to the fl/fl group. Whether this finding implies an abnormality, needs further investigation. [ABSTRACT FROM AUTHOR]

Background: Growth hormone (GH) in combination with conventional therapy in hypophosphatemic rickets (HR) has been shown to promote renal phosphate (P) conservation and to result in a better metabolic control. This study aimed at investigating the acute biochemical effects of GH in 7 patients (5 female, 2 male) with HR aged between 2.16 and 16 years. Methods: Each patient received the following in a sequential design: oral P plus 1,25-dihydroxyvitamin D[sub 3] [1,25-(OH)[sub 2] D[sub 3] ] therapy to determine the optimum doses for baseline requirement followed by GH-only therapy and GH +1,25-(OH)[sub 2] D[sub 3] therapy and GH + P +1,25-(OH)[sub 2] D[sub 3] therapy each for 2 weeks with 1 washout week off treatment in between. GH was given at a dose of 0.03 mg/kg/day s.c. on a daily basis. The dose of oral P used ranged between 500 and 2,000 mg/day, and the dose of 1,25-(OH)[sub 2] D[sub 3] ranged between 0.25 and 0.5 μg/day and was kept constant for each child throughout the study. Results: Laboratory investigations repeated at the end of each treatment, and the first washout period showed that the serum P level was highest (2.9 ng/ml) during the GH + P + 1,25-(OH)[sub 2] D[sub 3] period with higher serum 1,25-(OH)[sub 2] D[sub 3] levels: 50.9 ± (SD) 23.4 ng/l. Parathyroid hormone and alkaline phosphatase levels did not show a significant difference between the periods. The tubular P reabsorbtion rate showed an insignificant increase during GH therapy periods. Conclusion: Considering the fixed dose of P and calcitriol, it may be concluded that GH added to conventional treatment in HR resulted in a slight improvement in the biochemical parameters without any side effects at the short term.Copyright © 2001 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Multiple pituitary hormone deficiency (MPHD) due to the absence of pituitary transcription factors is associated with growth hormone (GH) deficiency in addition to at least one of the deficiencies of adrenocorticotropic hormone (ACTH), luteinizing hormone, follicle-stimulating hormone, thyroidstimulating hormone (TSH), and/or prolactin (PRL). Its prevalence is 1/7000-1/10000. The aim of our presentation of the case with MPHD is to emphasize the clinical examination and hormonal findings, follow-up of radiologicalclinical findings, and importance of early diagnosis and treatment. A 9-month-old male patient presented to outpatient clinics with the symptom of constipation for the last 1.5 months and diagnosed with hypothyroidism was referred to our clinic for further evaluation. Mother and father were consanguineous, first-degree cousins. At presentation, his weight was 5700 gram [-3.6 standard deviation score (SDS)], height 61.8 cm (-3.5 SDS), bone age compatible with 2 months of age. On physical evaluation, pale skin, edematous eye lids, coarse face, macroglossia, motor retardation, hypotonicity, abdominal distention, umbilical hernia, and hepatomegaly were noted; his cry was hoarse. The patient was pre-pubertal. Laboratory examination revealed anemia, elevated liver enzymes, hyperlipidemia, and central hypothyroidism. TSH response to thyrotropin-releasing hormone stimulation was blunted. Cortisol and PRL levels were normal, partial GH deficiency was detected. On cranial and pituitary magnetic resonance imaging examination, pituitary hyperplasia was determined. On L-thyroxin treatment, clinical findings of hypothyroidism and pituitary hyperplasia regressed. Clinical and laboratory findings suggested PROP1 gene defect. However, no mutation was found in the PROP1 gene. No POU1F1, LHX3 and HESX1 gene mutations were detected either. During follow-up, growth velocity decreased around 12 years of age. Repeated stimulation tests were compatible with GH deficiency and GH treatment was started. PRL and ACTH deficiencies did not develop and spontaneous puberty started at 12 years and 4 months of age. At his last visit, he was 14 years and 4 months old, his weight was 51.3 kg (-0.4 SDS), his height was 150.9 cm (-1.7 SDS) with progression of puberty. Genetic analysis should be done in patients with congenital MPHD to diagnose the hormone deficiencies and to start treatment if necessary. [ABSTRACT FROM AUTHOR]

Background: Multiple pituitary hormone deficiency (MPHD) associated with central precocious puberty (CPP) has been widely reported in cases of arachnoid cyst, septooptic dysplasia, brain tumors, or after cranial irradiation. However, MPHD due to deficiency of transcription factors that regulate the development of hypothalamo- pituitary system is rarely reported in combination with CPP. CPP may delay the diagnosis of growth hormone (GH) deficiency and adversely affects adult height. In this report, a patient with MPHD due to POU1F1 (PIT1) deficiency and CPP is described because of its rarity. Case: A 20-month-old boy presented with short stature. He had the diagnosis of central hypothyroidism and has been receiving L-thyroxin therapy since the age of 3 months. He was born at 34 gestational weeks [birth weight 0.6 standard deviation (SD), birth length -1.2 SD], and had no perinatal asphyxia. Severe short stature (length 62 cm, -6.6 SD) was detected. There was no dysmorphic features. Testicles were scrotal and pre-pubertal. GH deficiency and prolactin deficiency were detected and there were no abnormalities in cranial and pituitary magnetic resonance imaging except for pituitary hypoplasia. While he was on GH (started at age 2 years) and L-thyroxin therapy, puberty started at 79/12 years. Gonadotropin-releasing hormone (GnRH) analogue was started at 8 years due to rapid progression of puberty and continued up to 11 years of age. In the patient who had thyroid-stimulating hormone, prolactin, and GH deficiencies, a new point mutation was detected in the POU1F1 gene (homozygous p.I244S); the parents were carriers for this mutation. Conclusion: In humans, the relation between POU1F1 gene and CPP is not exactly known. In animal studies, it was shown that POU1F1 gene has effects on the GATA2 gene which has an important role on gonadotropin production and also plays a role in GnRH receptor gene functions, regulation of gonadotropin production, and in prevention of excess gonadotropin production. Further clinical and experimental studies are needed to detect the relation between POU1F1 functions and CPP. [ABSTRACT FROM AUTHOR]

The article discusses a study that evaluates the endocrine disorders and growth hormone (GH) therapy outcome in brain tumor survivors. The study included 65 patients who were classified as craniopharyngioma, medulloblastoma and others. It suggests that endocrine disorders were frequently seen in patients with brain tumors.