Prevalence Of Growth Hormone Deficiency Research Articles

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

This systematic review aims to describe 1) the epidemiology of the diseases indicated for treatment with growth hormone (GH) in Italy; 2) the adherence to the GH treatment in Italy and factors associated with non-adherence; 3) the economic impact of GH treatment in Italy; 4) the quality of life of patients treated with GH and their caregivers in Italy. Systematic literature searches were performed in PubMed, Embase and Web of Science from January 2010 to March 2021. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol has been registered in PROSPERO (CRD42021240455). We included 25 studies in the qualitative synthesis. The estimated prevalence of growth hormone deficiency (GHD) was 1/4,000-10,000 in the general population of children; the prevalence of Short Stature HOmeoboX Containing gene deficiency (SHOX-D) was 1/1,000-2,000 in the general population of children; the birth prevalence of Turner syndrome was 1/2,500; the birth prevalence of Prader-Willi syndrome (PWS) was 1/15,000. Treatment adherence was suboptimal, with a range of non-adherent patients of 10-30%. The main reasons for suboptimal adherence were forgetfulness, being away from home, pain/discomfort caused by the injection. Economic studies reported a total cost for a complete multi-year course of GH treatment of almost 100,000 euros. A study showed that drug wastage can amount up to 15% of consumption, and that in some Italian regions there could be a considerable over- or under-prescribing. In general, patients and caregivers considered the GH treatment acceptable. There was a general satisfaction among patients with regard to social and school life and GH treatment outcomes, while there was a certain level of intolerance to GH treatment among adolescents. Studies on PWS patients and their caregivers showed a lower quality of life compared to the general population, and that social stigma persists. Growth failure conditions with approved GH treatment in Italy constitute a significant burden of disease in clinical, social, and economic terms. GH treatment is generally considered acceptable by patients and caregivers. The total cost of the GH treatment is considerable; there are margins for improving efficiency, by increasing adherence, reducing drug wastage and promoting prescriptive appropriateness.

Evaluation of Growth Hormone Deficiency in Children with Cystic Fibrosis.

Background:Due to chronic respiratory and gastrointestinal problems, growth failure is a common issue in patients with cystic fibrosis (CF). The present study aimed to investigate the prevalence of growth hormone deficiency (GHD) in CF children with stable gastrointestinal and respiratory conditions.Materials and Methods:In this study, the growth indicators of all 4–16-year-old children referred to two CF clinics were monitored over 3 years. Children without severe gastrointestinal or pulmonary symptoms with weight <3% percentile or whose height increase were two standard deviations below their expected height growth over 6 months were selected for the growth hormone (GH) stimulation test by clonidine and L-dopa test. Some of the children without CF, who were also referred for height growth disorders and matched the CF group, were considered the control group. They underwent the GH stimulation test, and the results were compared.Results:From 150 patients with CF, growth failure was observed in 24 patients with stable gastrointestinal and respiratory conditions; in 10 of them, the GH stimulation test was deficient. The prevalence of GHD was 6.6% in CF patients. In the control group of 30 children without CF, but with growth failure, the GH was deficient in nine cases, implying no significant difference with the case group (P = 0.37).Conclusion:In our study, the prevalence of GHD was 6.6% in CF patients, whereas the prevalence GHD in the normal population of childhood is <1%. Therefore, further studies should be designed to investigate the cause of GHD in CF patients.

Abstract 632: Growth hormone deficiency in childhood germ cell tumor survivors

Abstract Introduction: Germ cell tumors (GCTs) are a rare heterogenous group of cancers accounting for 3% of childhood cancers and 15% of cancers in adolescents. Cure rates for GCTs exceed 90% and GCTs currently comprise the 3rd largest group of childhood cancer survivors in the United States. Little systematic evidence exists on late effects of cancer treatment in this group. Treatment for GCTs includes some combination of chemotherapy, radiation, and gonadectomy; interventions that place survivors at high risk for developing endocrinopathies. One of the most common endocrinopathies experienced by childhood cancer survivors is growth hormone deficiency (GHD). In this analysis, we evaluated the prevalence of growth hormone deficiency among GCT survivors. Methods: Participants were previously enrolled in the Germ Cell Tumor Epidemiology Study (GaMETES), which is a case parent triad study conducted using the Children's Oncology Group registry protocols. Data on late effects and outcomes are currently available for a subset of the participants who have provided additional consent for a follow-up study including a self-administered questionnaire and medical record retrieval. GHD was identified via self-report and validated through medical records. Treatment information was abstracted from the medical records. Results: In this interim analysis, 230 participants completed the self-administered questionnaire, including 61 with ovarian tumors, 40 with testicular tumors, 38 extragonadal tumors, and 92 intracranial tumors. Thirty-six of the participants reported having growth hormone deficiency (GHD), all of whom had intracranial germ cell tumors (iGCTs). Thus, the prevalence of GHD among iGCT survivors was 39.1%. We validated 45 questionnaire responses against chart review of iGCT patients. Among these 45, 24 (53.33%) iGCT survivors had GHD. Participants who were treated with high doses of cranial radiation (&amp;gt;30 Gy) were more likely to have GHD (OR = 2.3, 95% CI 0.4-13.1). Conclusions: Growth hormone deficiency is highly prevalent in survivors of childhood intracranial germ cell tumors. The increased prevalence is likely related to the propensity for germ cell tumor involvement of the pituitary stalk, chemotherapy and cranial radiation. Exposure to higher cumulative doses of cranial radiation is associated with higher risk for developing growth hormone deficiency. Citation Format: Diana W. Lone, Karim T. Sadak, Bradley S. Miller, Aubrey K. Hubbard, Jeannette Sample, Michelle Roesler, Jenny N. Poynter. Growth hormone deficiency in childhood germ cell tumor survivors [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2021; 2021 Apr 10-15 and May 17-21. Philadelphia (PA): AACR; Cancer Res 2021;81(13_Suppl):Abstract nr 632.

A Systematic Review and Meta-Analysis of Stature Growth Complications in β-thalassemia Major Patients.

Background:Blood transfusion is a traditional treatment for β-thalassemia (β-thal) that improves the patients’ anemia and lifespan, but it may lead to iron overload in parenchymal tissue organs and endocrine glands that cause their dysfunctions as the iron regulatory system can’t excrete excess iron from the bloodstream.Objective:To evaluate the prevalence of iron-related complications (short stature, growth retardation, and growth hormone deficiency) in β-thalassemia major (βTM) patients.Methods:We performed an electronic search in PubMed, Scopus, and Web of Sciences to evaluate the prevalence of growth hormone impairment in β-thalassemia major (βTM) patients worldwide. Qualities of eligible studies were assessed by the Joanna Briggs Institute checklist for the prevalence study. We used Comprehensive Meta-Analysis (Version 2) to calculate the event rate with 95% CIs, using a random-effects model for all analyses.Findings:Seventy–four studies were included from five continents between 1978 and 2019; 70.27% (Asia), 16.21% (Europe), 6.75% (Africa), 2.70% (America), 1.35% (Oceania), and 2.70% (Multicenter). The overall mean age of the participants was about 14 years. The pooled prevalence of short stature (ST) was 48.9% (95% CI 35.3–62.6) and in male was higher than female (61.9%, 95% CI 53.4–69.7 vs. 50.9%, CI 41.8–59.9). The pooled prevalence of growth retardation (GR) was 41.1% and in male was higher than in female (51.6%, 95% CI 17.8–84 vs. 33.1%, CI 9.4–70.2). The pooled prevalence of growth hormone deficiency (GHD) was 26.6% (95% CI 16–40.8).Conclusion:Our study revealed that near half of thalassemia patients suffer from growth impairments. However, regular evaluation of serum ferritin levels, close monitoring in a proper institute, suitable and acceptable treatment methods besides regular chelation therapy could significantly reduce the patients’ complications.

Prevalence of growth hormone deficiency in patients with unexplained chronic fatigue after undergoing bone marrow transplantation in adulthood.

Many patients who undergo bone marrow transplantation (BMT) in adulthood experience unexplained chronic fatigue which can have a major impact on their health-related quality of life (QoL). Pre-BMT treatment regimens increase the risk of developing acquired growth hormone deficiency (GHD), which results in a clinical syndrome with decreased energy and has additionally been linked to metabolic syndrome. Using the gold-standard insulin hypoglycemic test (IHT), we evaluated the prevalence of GHD in 18 post-BMT adult patients with unexplained chronic fatigue, as well as the correlation between peak serum GH response and QoL scores, the metabolic syndrome, and insulin resistance. Peak serum GH cut-point less than 3.0 ug/L was used for the diagnosis of severe GHD. The Fatigue Severity Scale and Quality of Life in Adult GHD Assessment questionnaires were used to quantify fatigue symptoms. The prevalence of severe GHD within this sample of 18 patients was 50%. A trend between lower peak serum GH response and higher fatigue and QoL-AGHDA scores was observed. GHD may represent a remediable contributor to post-BMT chronic fatigue in adults, further studies are needed to evaluate the potential role of screening and GH replacement therapy in this vulnerable patient population. GHD may be a treatable explanation for disabling post-BMT fatigue pending results of intervention studies.

Hypothalamic-pituitary axis dysfunction and metabolic derangements in Thai childhood leukemia survivors

Abstract Aims: To determine the prevalence and severity of endocrine and metabolic derangements in childhood-onset alL survivors from Thailand and to describe the associated risk factors. Settings and Design: Paediatric department in medical school hospital, cross-sectional study. Methods: Insulin Tolerance Test (ITT), IGF-I and IGFBP-3 levels, Thyroid and gonadal function, serum sodium and metabolic profiles were investigated in 30 childhood onset alL survivors. (16 males, 14 females, mean age: 14.66 ± 7.16 years). Results: Endocrine abnormalities were displayed in 73.33 % of patients, 46.7% had two or more abnormalities. Grade3 of severity were present in 16.67%. Growth hormone deficiency (GHD) was detected in 10 patients (33%). Early onset of ALL was the potential risk factor of GHD. Adult height was more deteriorated in the female group. Twenty percent of patients were found with subnormal cortisol responses. Gonadal failure was evidenced in one case that experienced testicular irradiation. No diabetes insipidus was detected. Among 6 obese patients, 2 patients developed metabolic syndrome. Moreover, one patient was diagnosed with insulin-depleted diabetes mellitus. Conclusion: Our results highlighted various endocrine and metabolic sequelae occurring in childhood-onset alL survivors after completion of their therapy. The prevalence of GHD was higher than the one previously described in Japan population. Subclinical hormonal abnormalities may affect health outcomes. Biochemical and hormonal abnormalities should be carefully monitored for immediate treatment.

Prevalence of childhood growth hormone deficiency in survivors of pediatric intracranial germ cell tumors.

e22526 Background: Survival rates for childhood cancer continue to rise, and there are now greater than 420,000 survivors in the United States. However, high cure rates come at the cost of short and long-term treatment-related toxicities. Endocrine disorders are among the most common late effects and are associated with poor health outcomes and lower quality of life. Survivors of pediatric intracranial germ cell tumors (iGCTs) are at high risk for endocrine disorders, particularly for growth hormone deficiency (GHD), due to their exposures to cranial radiation, chemotherapy, and brain surgery. To date, no long-term follow-up studies have explored the late effects experienced by survivors of iGCTs. Methods: Study participants were enrolled in the Germ Cell Tumor Epidemiology Study, which is a case-parent triad study conducted using the resources of the Children’s Oncology Group’s Childhood Cancer Research Network. Eligibility criteria included diagnosis with a germ cell tumor in any location at age 0-19 years in the years 2008-2015. The study population included 233 cases with a diagnosis of iGCT. We are currently following the cohort to evaluate outcomes and late effects of treatment, including medical record review to extract data on treatment characteristics and hormone deficiencies. This interim analysis includes chart review for 57 iGCT cases. Results: Of the 57 cases reviewed, there was a male predominance (73.7%) with the highest prevalence in non-Hispanic whites (80.4%). Cases of iGCTs can be subdivided into two main histologic subtypes, germinomas (36 cases) and non-germinomatous GCTs (NGGCT, 21 cases). The median age at diagnosis was 14.6 years for the germinomas and 10.5 years for NGGCTs. Data on growth hormone deficiency (GHD) was available for 42 of the 57 cases with a median follow-up of 7.4 years. Twenty-eight of the 42 cases (66.7%) had GHD; 19 in the germinoma group and 9 in the NGGCT group (p = 0.47). 17 of those with GHD were males (p = 0.10). There was no significant difference in prevalence of GHD by age of tumor diagnosis (p = 0.20). Conclusions: Survivors of iGCTs are at high risk for growth hormone deficiency. Identifying specific risk factors for developing GHD amongst these survivors can enhance the current guidelines for screening and management.

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

MON-077 A Case of Growth Hormone Deficiency in Sturge-Weber Syndrome

Introduction: Sturge-Weber syndrome (SWS) is a congenital neurocutaneous disorder characterized by a port wine stain on the skin in the distribution of the ophthalmic branch of the trigeminal nerve (vascular malformation of skin), glaucoma, and leptomeningeal angiomas. Central nervous system abnormalities may increase the risk of hypothalamic-pituitary dysfunction. One previous study showed that SWS patients had higher prevalence of growth hormone deficiency than the general population although the etiology is unclear. This case report describes a patient who was initially diagnosed with SWS and later confirmed with complete growth hormone deficiency.Case: A 7-year-and-11-month-old boy who had been diagnosed with SWS visited a tertiary center for the evaluation of short stature [111.1cm (<3 percentile)]. He was born at 37 weeks of gestational age with birth weight of 3230g by cesarean section and had a port wine nevus on the right side of the face since birth. He had a history of epilepsy first occurring at 6 months of age when he was diagnosed with SWS. There were two more attacks of seizure till 32 months of age. Brain magnetic resonance imaging revealed leptomeningeal angioma, choroidal hemangioma, and diffuse brain atrophy. He was diagnosed with glaucoma and had been managed with surgery and medication. There was no family history of SWS or any other brain anomaly. His mid-parental height was 167.7cm. All blood tests were normal including complete blood count, chemistry, and thyroid function test. Hand x-ray showed delayed bone age. Cocktail test was performed for the evaluation of short stature. As a result, he was diagnosed with complete growth hormone deficiency (peak GH on L-dopa test: 2.46 ng/mL, peak GH on glucagon test: 3.71 ng/mL). The recombinant growth hormone therapy was started at the age of 8 years and 1 month. He showed good response to GH treatment. His height became 125.8cm at the age of 9 years and 5 months (height velocity 9.2 cm/year), and 134.3cm at the age of 10 years and 6 months.Conclusion: We experienced a case with Sturge-Weber syndrome and complete growth hormone deficiency which was successfully managed by recombinant growth hormone therapy. It may be better to consider the possibility of GH deficiency even if there are certain conditions that affect the growth itself.

Prevalence of growth hormone deficiency in middle-age adults recovering from stroke

ABSTRACTObjective: The prevalence of chronic growth hormone deficiency (GHD) and its association with other hormonal deficiencies was determined in middle-aged patients post-stroke with and without consideration of body mass index (BMI).Methods: Clinical records were reviewed to determine pituitary function at least 3 months post-stroke. Patients with a history of endocrine anomalies were excluded. GHD was determined by utilizing standard peak GH cutoffs following the glucagon stimulation test. A secondary analysis was conducted with stricter BMI-adjusted cutoffs. The accuracy of IGF-1 in predicting GHD was also examined.Results: GHD was diagnosed in 54% of patients (≥5.0 μg/L), with 32% falling into the severe (≤3 μg/L) category. Patients with GHD had lower levels of FSH, T3, LH, and SHBG. Analyzes of BMI-adjusted GH levels, revealed that 14% of patients were GHD. These patients had higher prolactin. IGF-1 values were not predictive of GHD. Latency to be admitted to post-acute rehabilitation was greater in patients with GHD.Conclusions: Evidence suggests patients with stroke may be at risk for developing GHD. GHD was associated with decreased levels of other hormones. Co-morbidities for stroke and neuroendocrine dysfunction overlap and may have implications for recovery following stroke.

Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome.

ObjectiveSome features of subjects with Prader‐Willi syndrome (PWS) resemble those seen in growth hormone deficiency (GHD). Children with PWS are treated with growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS must discontinue GH after attainment of adult height when they do not fulfil the criteria of adult GHD. Limited information is available about the prevalence of GHD in adults with PWS. This study aimed to investigate the GH/insulin‐like growth factor (IGF‐I) axis and the prevalence of GHD in previously GH‐treated young adults with PWS.DesignCross‐sectional study in 60 young adults with PWS.MeasurementsSerum IGF‐I and IGFBP‐3 levels, GH peak during combined growth hormone‐releasing hormone (GHRH)‐arginine stimulation test.ResultsSerum IGF‐I was <−2 standard deviation scores (SDS) in 2 (3%) patients, and IGFBP‐3 was within the normal range in all but one patient. Median (IQR) GH peak was 17.8 μg/L (12.2; 29.7) [~53.4 mU/L] and below 9 μg/L in 9 (15%) patients. Not one patient fulfilled the criteria for adult GHD (GH peak < 9 μg/L and IGF‐I < −2 SDS), also when BMI‐dependent criteria were used. A higher BMI and a higher fat mass percentage were significantly associated with a lower GH peak. There was no significant difference in GH peak between patients with a deletion or a maternal uniparental disomy (mUPD).ConclusionsIn a large group of previously GH‐treated young adults with PWS, approximately 1 in 7 exhibited a GH peak <9 μg/L during a GHRH‐arginine test. However, none of the patients fulfilled the consensus criteria for adult GHD.

Abstract TP167: Prevalence of Growth Hormone Deficiency in the Chronic Phase of Recovery From Stroke

Introduction: The objective of the current retrospective study was to determine the prevalence of growth hormone deficiency (GHD) in middle-aged patients with ischemic and hemorrhagic stroke who were at least 3 months post-stroke. It was hypothesized a large percentage of patients with stroke would exhibit growth hormone deficiency, as well as, other hormone deficiencies. A secondary objective was to determine if chronic health conditions often associated with stroke were associated with neuroendocrine dysfunction. Methods: Clinical records from 139 adult patients (from 2009-2017), who were in the post-acute phase of their recovery, were obtained to analyze findings from standard endocrine blood tests. Patients with a pre-stroke history of endocrine anomalies were excluded from the study. Growth hormone was assessed by the glucagon stimulation test (GST). Results: GHD was identified in 54% of the patients with stroke during the chronic phase of recovery. Patients with GHD took longer to be admitted to post-acute rehabilitation compared to patients with normal GH levels. Patients with GHD also had lower levels of follicle stimulating hormone (FSH), triiodothyronine (T3), luteinizing hormone (LH) and sex hormone binding globulin. Body mass index was higher in patients with GHD. Conclusions: There is a considerable risk of developing hypopituitarism, particularly GHD, following ischemic or hemorrhagic stroke. In this relatively large sample of middle-aged stroke patients, GHD was associated with decreased levels of T3 and gonadotrophic hormones. Co-morbidities for stroke and neuroendocrine dysfunction overlap and may have implications for recovery following stroke and warrant further investigation.

Deregulation of the growth hormone/insulin-like growth factor-1 axis in adults with cystic fibrosis.

Patients with cystic fibrosis (CF) present with signs and symptoms that overlap with those of adult growth hormone deficiency (GHD) syndrome: loss of muscle mass, bone fragility and lower stress tolerance. In literature, the prevalence of GHD in pediatric CF patients is higher than general population, but these studies have been performed on children with growth delay. To our knowledge, there are no studies on adult patients. The aim of this paper is to evaluate GH-IGF1 axis in an adult CF population. Fifty clinically stable adult patients, 30 males; age 36±2years; BMI 21.39±0.22kg/m2 and FEV1 67±4% were studied. Data regarding glycometabolic status and results of pituitary, thyroid, parathyroid, gonadal and adrenal function tests were recorded. All patients underwent a GH releasing hormone (GHRH)+Arginine stimulation test to confirm a GHD. GHRH+Arginine test revealed the presence of GHD in 16 patients (32%); specifically 7 patients had a severe deficiency and 9 a partial deficiency. Adult patients with CF may show GHD. These patients should be followed over time to assess if the GHD could impact the clinical progression of CF.

The prevalence of growth hormone deficiency in survivors of subarachnoid haemorrhage: results from a large single centre study

ObjectiveThe variation in reported prevalence of growth hormone deficiency (GHD) post subarachnoid haemorrhage (SAH) is mainly due to methodological heterogeneity. We report on the prevalence of GHD in a large cohort of patients following SAH, when dynamic and confirmatory pituitary hormone testing methods are systematically employed.DesignIn this cross-sectional study, pituitary function was assessed in 100 patients following SAH. Baseline pituitary hormonal profile measurement and glucagon stimulation testing (GST) was carried out in all patients. Isolated GHD was confirmed with an Arginine stimulation test and ACTH deficiency was confirmed with a short synacthen test.ResultsThe prevalence of hypopituitarism in our cohort was 19% and the prevalence of GHD was 14%. There was no association between GHD and the clinical or radiological severity of SAH at presentation, treatment modality, age, or occurrence of vasospasm. There were statistically significant differences in terms of Glasgow Outcome Scale (GOS; p = 0.03) between patients diagnosed with GHD and those without. Significant inverse correlations between GH peak on GST with body mass index (BMI) and waist hip ratio (WHR) was also noted (p < 0.0001 and p < 0.0001 respectively).ConclusionUsing the current testing protocol, the prevalence of GHD detected in our cohort was 14%. It is unclear if the BMI and WHR difference observed is truly due to GHD or confounded by the endocrine tests used in this protocol. There is possibly an association between the development of GHD and worse GOS score. Routine endocrine screening of all SAH survivors with dynamic tests is time consuming and may subject many patients to unnecessary side-effects. Furthermore the degree of clinical benefit derived from growth hormone replacement in this patient group, remains unclear. Increased understanding of the most appropriate testing methodology in this patient group and more importantly which SAH survivors would derive most benefit from GHD screening is required.

Abstract 10: Neuroendocrine Dysfunction and Functional Disability Following Stroke

Comprehensive studies of the incidence of neuroendocrine dysfunction following stroke are lacking. The objectives of this study were to determine the incidence of neuroendocrine dysfunction in patients with stroke and to determine if growth hormone deficiency (GHD) contributes to disability following stroke. Hormones were assessed in 130 patients with stroke (ischemic: n=65; hemorrhagic: n=65; M time since stroke=155 days; men=81; M age = 52). TSH, T3, T4, follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol, testosterone, cortisol, and insulin-like growth factor-1 were assessed. All patients underwent glucagon stimulation testing (GST) to assess growth hormone (GH). Patients were then classified as having severe GHD, moderate GHD or normal GH based on the results of the GST. Functional disability was assessed with the Disability Rating Scale, Independent Living Scale (ILS), and the Mayo-Portland Adaptability Inventory-IV. The majority of stroke patients had GHD (30% severe; 29% moderate). Patients with ischemic stroke had a higher prevalence of GHD (34% severe; 33% moderate) compared to patients with hemorrhagic stroke (26% severe; 23% moderate). The severe GHD group had significantly lower levels of FSH than the moderate GHD and normal GH groups (p&lt;0.01). The moderate GHD group had significantly lower levels of LH than the severe GHD and normal GH groups (p&lt;0.05) and significantly lower levels of T3 than the severe GHD and normal GH groups (p&lt;0.05). The severe GHD group performed worse on the Activities of Daily Living and Behavior subscales of the ILS than the moderate GHD and normal GH groups (p&lt;0.05). GHD was more prevalent in patients with ischemic stroke, indicating that type of stroke may influence neuroendocrine functioning. Additionally, FSH, LH and T3 were lower in patients with GHD than in patients with normal levels of GH. The implications of these findings suggest that routine, comprehensive neuroendocrine testing may be warranted in individuals who have sustained a stroke. Patients with GHD were more functionally disabled in their ability to perform activities of daily living and to engage in socially appropriate behavior. These findings suggest that hormone deficiencies can influence disability post-stroke.

Detection of Growth Hormone Deficiency in Adults with Chronic Traumatic Brain Injury.

This study examined the prevalence of growth hormone deficiency (GHD) in patients with traumatic brain injury (TBI) during the post-acute phase of recovery and whether GHD was associated with increased disability, decreased independence, and depression. A secondary objective was to determine the accuracy of insulin-like growth factor-1 (IGF-1) levels in predicting GHD in patients with TBI. Anterior pituitary function was assessed in 235 adult patients with TBI through evaluation of fasting morning hormone levels. GH levels were assessed through provocative testing, specifically the glucagon stimulation test. GHD was diagnosed in a significant number of patients, with 45% falling into the severe GHD (≤3 μg/L) category. IGF-1 levels were not predictive of GHD. Patients with GHD were more disabled and less independent compared with those patients who were not GHD. Those patients with more severe GHD also showed decreased levels of cortisol and testosterone. Symptoms of depression were also more prevalent in this group. In addition, patients with severe GHD had delayed admission to post-acute rehabilitation. This study confirms the high prevalence of GHD in patients with TBI and the necessity to monitor clinical symptoms and perform provocative testing to definitively diagnose GHD.

Incidence and prevalence of growth hormone deficiency in the russian federation according to the official medical statistics data and the growth hormone deficiency patients registry

Background. Growth hormone (GH) therapy for growth hormone deficient (GHD) children in Russia is funded by the state. This warrants the need for a full understanding of the disease and its treatment with recombinant GH (rGH) including its clinical, epidemiological and economical aspects. Aims — to estimate the incidence and the prevalence of GHD in children and adults in the Russian Federation.Material and methods. In Russia, GHD patients are registered in both the official medical statistics (MS) and a special registry for patients suffering of «high expenditure dieseases». Both the official MS data and the GHD patients’ registry is used for analysis.Results. According to MS the prevalence of GHD in Russia among children is 14,38 per 100 000. Including the adult population and adult patients with GHD, the prevalence is calculated at 4,94 per 100 000 total population. Calculations based on the registry show similar, yet not identical results: 14,57 per 100 000 children and 4,56 per 100 000 total population. The incidence of GHD among children results at 2,45 per 100 000 children/year according to MS, according to the registry — 2,06 per 100 000 children/year. Several regions of Russia demonstrate an extremely high or low prevalence/incidence of GHD among children. The prevalence of GHD among adults is much lower (statistics — 2,68 per 100 000 adults, registry — 2,16 per 100 000 adults). These circumstances warrant closer investigations and possible corrections of both diagnostics of GHD and patient monitoring.Conclusions. The differences between the MS and the registry revealed here show the necessity for correcting the rules of conducting the registry. Today there are no clear exclusion criteria. Considering the epidemiology of GHD shown by the official MS, the dependence of GH therapy outcome on a timely diagnosis we suggest to widen the functional use of the federal registry, which has the potential to become a useful tool in GH therapy control and patient monitoring.

Growth hormone therapy for Prader-willi syndrome: challenges and solutions.

Prader–Willi syndrome (PWS) is characterized by a dysregulation of growth hormone (GH)/insulin-like growth factor I axis, as the consequence of a complex hypothalamic involvement. PWS’ clinical picture seems to resemble the classic non-PWS GH deficiency (GHD), including short stature, excessive body fat, decreased muscle mass, and impaired quality of life. GH therapy is able to ameliorate the phenotypic appearance of the syndrome, as well as to improve body composition, physical strength, and cognitive level. In this regard, however, some pathophysiologic and clinical questions still remain, representing a challenge to give the most appropriate care to PWS patients. Data about the prevalence of GHD in PWS children are not unequivocal, ranging from 40% to 100%. In this context, to establish whether the presence (or not) of GHD may have a different effect on clinical course during GH therapy may be helpful. In addition, the comparison of GH effects in PWS children diagnosed as small for gestational age with those obtained in subjects born appropriate for gestational age is of potential interest for future trials. Emerging information seems to demonstrate the maintenance of beneficial effects of GH therapy in PWS subjects after adolescent years. Thus, GH retesting after achievement of final height should be taken into consideration for all PWS patients. However, it is noteworthy that GH administration exerts positive effects both in PWS adults with and without GHD. Another critical issue is to clarify whether the genotype–phenotype correlations may be relevant to specific outcome measures related to GH therapy. Moreover, progress of our understanding of the role of GH replacement and concomitant therapies on bone characteristics of PWS is required. Finally, a long-term surveillance of benefits and risks of GH therapy is strongly recommended for PWS population, since most of the current studies are uncontrolled and of short duration.

Relationship of each anterior pituitary hormone deficiency to the size of non-functioning pituitary adenoma in the hospitalized patients.

Non-functioning pituitary adenoma (NFPA) is often associated with hypopituitarism. Diagnosis of hypopituitarism is important because of its poor prognosis and low quality of life. Among hypopituitarism, it is difficult to diagnose secondary adrenocortical insufficiency and GH deficiency without hormone stimulation test. Therefore, the aim of our study was to identify patients with NFPA who require more careful endocrinological examination. We examined the relationship between NFPA size and the prevalence of each hypopituitarism or the response of each anterior pituitary hormone by insulin tolerance test, LHRH test and TRH test. We studied 63 patients with NFPA admitted for evaluation of pituitary function and surgical indication. They were classified three groups by tumor diameter. The prevalence of GH deficiency, male secondary hypogonadism, secondary hypothyroidism and PRL deficiency were higher in the group of larger tumor diameter (p<0.0001, p<0.05, p<0.05 and p<0.05, respectively). However, that of secondary adrenocortical insufficiency only tended to be higher (p=0.07). In the group with small NFPA (less than 20 mm), the prevalence of secondary adrenocortical insufficiency was 38% although those of GH deficiency, male secondary hypogonadism, secondary hypothyroidism and PRL deficiency were 0%, 0% and 8% and 9%, respectively. Anterior pituitary hormone responses except TSH had significantly negative correlation with tumor diameter (ACTH: r=-0.40, GH: r=-0.57, LH: r=-0.69, FSH: r=-0.46, PRL: r=-0.36). The results suggested physicians should proactively suspect GH deficiency, male secondary hypogonadism and secondary hypothyroidism in patients with larger NFPA. On the other hand, adrenocortical function should be examined even in patients with small NFPA.

WS04.2 Growth hormone deficiency (GHD) in adult patients (pts) with cystic fibrosis (CF)

Introduction CF adult pts complain signs and symptoms that overlap with the GHD: loss of muscle mass, physical function, occurrence of bone fragility, cardiovascular complications and lower stress tolerance. Aim To assess the prevalence of GHD in a cohort of CF adults. Methods 41 pts (30M) with a mean age of 36.9±10.7 yrs were enrolled. Exclusion criteria: liver or lung transplantation, age Results Enrolled subjects had the following characteristics: BMI:21.7±2.8 kg/m 2 FEV1: 61.9±18.3%, FEF25–75 39±23.7%, CVF 78.7±19.5%. All pts with GHD have a severe genotype: have both alleles with mutations of the first 3 classes. Evaluation of the GH-IGF1 axis revealed 34.2% with a GHD: severe in 12.2% and partial in 22%. In severe GHD, mean GH peak was 9.2±1.3 ng/ml and mean IGF1 185.4±51.5 ng/ml, in partial GHD mean GH peak 13.2±1.5, mean IGF1 208±39.7, and in pts with normal GH response, mean GH peak was 51±38.6, mean IGF1 210.6±77.5. All pts with severe GHD showed a ΔF508 mutation (60% in homozygous). We found a significant difference in GHD pts than no GHD: in BMI (23.4±2.4 vs 20.9±2.7) and fasting glucose (115.9±29.1 vs 87.7±13.7) and that these variables are inversely correlated with the GH peak (BMI: R=−0.33, p = 0.04; fasting glucose: R=−0.31, p = 0.05). Discussion To our knowledge there are no studies on the GHD in adults pts CF. You have to follow these pts over time to assess the impact of GHD on general health; should be increased cases in the study to see if this data is confirmed.