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Muriel Coupaye - One of the best experts on this subject based on the ideXlab platform.
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Central Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome
J Clin Endocrinol Metab, 2020Co-Authors: Anna Rosenberg, Karlijn Pellikaan, Christine Poitou, Anthony Goldstone, Charlotte Høybye, Tania Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Muriel CoupayeAbstract:Context: Prader-Willi syndrome (PWS) is associated with several Hypothalamic-Pituitary Hormone deficiencies. There is no agreement on the prevalence of central adrenal insufficiency (CAI) in adults with PWS. In some countries, it is general practice to prescribe stress-dose hydrocortisone during physical or psychological stress in patients with PWS. Side effects of frequent hydrocortisone use are weight gain, osteoporosis, diabetes mellitus, and hypertension-already major problems in adults with PWS. However, undertreatment of CAI can cause significant morbidity-or even mortality. Objective: To prevent both over- and undertreatment with hydrocortisone, we assessed the prevalence of CAI in a large international cohort of adults with PWS. As the synacthen test shows variable results in PWS, we only use the metyrapone test (MTP) and insulin tolerance test (ITT). Design: Metyrapone test or ITT in adults with PWS (N = 82) and review of medical files for symptoms of hypocortisolism related to surgery (N = 645). Setting: Outpatient clinic. Patients or other participants: Eighty-two adults with genetically confirmed PWS. Main outcome measure: For MTP, 11-deoxycortisol > 230 nmol/L was considered sufficient. For ITT, cortisol > 500 nmol/L (Dutch, French, and Swedish patients) or > 450 nmol/L (British patients) was considered sufficient. Results: Central adrenal insufficiency was excluded in 81 of 82 patients. Among the 645 patients whose medical files were reviewed, 200 had undergone surgery without perioperative hydrocortisone treatment. None of them had displayed any features of hypocortisolism. Conclusions: Central adrenal insufficiency is rare (1.2%) in adults with PWS. Based on these results, we recommend against routinely prescribing hydrocortisone stress-doses in adults with PWS.
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SUN-308 Central Adrenal Insufficiency Is Rare in Adults with Prader-Willi Syndrome
Journal of the Endocrine Society, 2020Co-Authors: Anna G W Rosenberg, Karlijn Pellikaan, Christine Poitou, Charlotte Høybye, Tania Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Anthony P. Goldstone, Muriel CoupayeAbstract:Abstract Introduction: Prader-Willi syndrome (PWS) is associated with several Hypothalamic-Pituitary Hormone deficiencies. There is no agreement on the prevalence of central adrenal insufficiency (CAI) in adults with PWS. This is partly due to the variable results of the synacthen test, compared with the more robust metyrapone test (MTP) and insulin tolerance test (ITT). In some countries, patients with PWS receive stress-dose corticosteroids during physical or psychological stress. Side effects of frequent corticosteroids use are weight gain, osteoporosis, diabetes mellitus and hypertension, already major problems in adults with PWS. However, undertreatment of CAI can cause significant morbidity or even mortality. To prevent over- and undertreatment with corticosteroids, we assessed the prevalence of CAI in a large international cohort of adults with this rare disorder. Methods: The Hypothalamic-Pituitary-adrenal axis was tested in 81 adult subjects (55 Dutch, 10 British, 10 French, 6 Swedish) with genetically confirmed PWS. For multiple-dose MTP, 11-deoxycortisol >230 nmol/L (7.6 g/dL) was considered sufficient. For Dutch, French and Swedish patients who underwent ITT, cortisol >500 nmol/L (18.1 μg/dL) was considered sufficient. For British patients cortisol >450 nmol/L (16.3 μg/dL) was considered sufficient, as this center used a different assay. Additionally, we reviewed medical files of 645 adults with PWS from Italy (240), France (110), the Netherlands (110), Australia (60), Spain (45), Sweden (38) and the United Kingdom (42) for symptoms of hypocortisolism/adrenal crisis during surgery. Results: Data on 81 adult subjects (46 males and 35 females), median age (range) 25.2 yr (18.0 – 55.5), median BMI (range) 29.1 kg/m2 (20.0 – 62.0), with genetically confirmed PWS were collected. 33 subjects (41%) were using GH treatment since childhood. Multiple-dose MTP was performed in 45 subjects and ITT in 36 subjects. Both tests were well tolerated by all individuals. CAI was excluded in 80 of 81 patients. One patient with a peak cortisol level of 494 nmol/L (just below cut-off level of 500 nmol/L) was prescribed hydrocortisone for use during physical stress. There was no relation between baseline cortisol and ITT/multiple-dose MTP results. Even patients with a low baseline cortisol level (lowest: 102.0 nmol/L) had normal responses. Among the 645 patients whose medical files were reviewed, 200 had undergone surgery without perioperative corticosteroids treatment. None of them displayed any features of hypocortisolism/adrenal crisis. Conclusions: CAI is rare (1.2%) in adults with PWS. Based on these results, we recommend against routinely prescribing corticosteroids stress-doses in adults with PWS. Funding: CZ foundation.
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Central Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome.
The Journal of clinical endocrinology and metabolism, 2020Co-Authors: Anna Rosenberg, Karlijn Pellikaan, Christine Poitou, Charlotte Høybye, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Anthony P. Goldstone, Tania P. Markovic, Muriel CoupayeAbstract:textabstractCONTEXT: Prader-Willi syndrome (PWS) is associated with several Hypothalamic-Pituitary Hormone deficiencies. There is no agreement on the prevalence of central adrenal insufficiency (CAI) in adults with PWS. In some countries, it is general practice to prescribe stress-dose hydrocortisone during physical or psychological stress in patients with PWS. Side effects of frequent hydrocortisone use are weight gain, osteoporosis, diabetes mellitus, and hypertension-already major problems in adults with PWS. However, undertreatment of CAI can cause significant morbidity-or even mortality. OBJECTIVE: To prevent both over- and undertreatment with hydrocortisone, we assessed the prevalence of CAI in a large international cohort of adults with PWS. As the synacthen test shows variable results in PWS, we only use the metyrapone test (MTP) and insulin tolerance test (ITT). DESIGN: Metyrapone test or ITT in adults with PWS (N = 82) and review of medical files for symptoms of hypocortisolism related to surgery (N = 645). SETTING: Outpatient clinic. PATIENTS OR OTHER PARTICIPANTS: Eighty-two adults with genetically confirmed PWS. MAIN OUTCOME MEASURE: For MTP, 11-deoxycortisol > 230 nmol/L was considered sufficient. For ITT, cortisol > 500 nmol/L (Dutch, French, and Swedish patients) or > 450 nmol/L (British patients) was considered sufficient. RESULTS: Central adrenal insufficiency was excluded in 81 of 82 patients. Among the 645 patients whose medical files were reviewed, 200 had undergone surgery without perioperative hydrocortisone treatment. None of them had displayed any features of hypocortisolism. CONCLUSIONS: Central adrenal insufficiency is rare (1.2%) in adults with PWS. Based on these results, we recommend against routinely prescribing hydrocortisone stress-doses in adults with PWS.
A Agha - One of the best experts on this subject based on the ideXlab platform.
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Neuroendocrine disorders after traumatic brain injury
Journal of neurology neurosurgery and psychiatry, 2008Co-Authors: L. A. Behan, Jack Phillips, Cj Thompson, A AghaAbstract:Traumatic brain injury (TBI) is the most common cause of death and disability in young adults living in industrialised countries, in which 180-250 persons per 100 000 per year die or are hospitalised as a result. Neuroendocrine derangements after TBI have received increasing recognition in recent years because of their potential contribution to morbidity, and possibly mortality, after trauma. Marked changes of the hypothalamo-pituitary axis have been documented in the acute phase of TBI, with as many as 80% of patients showing evidence of gonadotropin deficiency, 18% of growth Hormone deficiency, 16% of corticotrophin deficiency and 40% of patients demonstrating vasopressin abnormalities leading to diabetes insipidus or the syndrome of inappropriate anti-diuresis. Longitudinal prospective studies have shown that some of the early abnormalities are transient, whereas new endocrine dysfunctions become apparent in the post-acute phase. There remains a high frequency of Hypothalamic-Pituitary Hormone deficiencies among long-term survivors of TBI, with approximately 25% patients showing one or more pituitary Hormone deficiencies. This is a higher frequency than previously thought and suggests that most cases of post-traumatic hypopituitarism (PTHP) remain undiagnosed and untreated. PTHP has been associated with adverse outcome both in the acute and chronic phases after injury. These data underscore the need for the identification and appropriate timely management of Hormone deficiencies, in order to optimise patient recovery from head trauma, improve quality of life and avoid the long-term adverse consequences of untreated hypopituitarism.
El Kholy M - One of the best experts on this subject based on the ideXlab platform.
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Precocious Puberty Following Traumatic Brain Injury in Early Childhood: A Review of the Literature.
Pediatric endocrinology reviews : PER, 2015Co-Authors: V. De Sanctis, Ashraf T Soliman, Heba Elsedfy, Nada Soliman, Rania Elalaily, El Kholy MAbstract:AIMS OF THE REVIEW The intent of the current manuscript is to review the cases of central precocious puberty (CPP) in early childhood following traumatic brain injury (TBI). SEARCH OF THE LITERATURE: The MEDLINE database was accessed through PubMed in April 2015. Results were not restricted to the date and language of the articles. For the first search we utilized MeSH terms "precocious puberty" in conjunction with "traumatic brain injury" and with "endocrine consequences". Reference lists were reviewed and relevant papers were also consulted to find additional studies and data. In selected cases the corresponding author was contacted by email. RESULTS In our systematic review, only a few case reports or small case series have highlighted a link between TBI and Hypothalamic-Pituitary Hormone abnormalities. Fourteen reported children were females and 8 were males. The majority of patients reported had severe TBI, assessed by Glasgow Coma Scale or structural injury (skull fractures, intracranial hemorrhage or cerebral injury) reported on computerized tomography or magnetic resonance imaging scans. The pathogenic mechanism of precocious puberty has not yet been determined. An increased pressure on the Hypothalamic-Pituitary area with loss of normal childhood hypothalamic inhibition of pituitary gonadotropins could be one of the factors responsible for CPP after TBI. CONCLUSIONS The current review highlights the importance of close clinical follow-up to evaluate the rate of linear growth and pubertal development after TBI. Although, precocious puberty appears to be rare after TBI, prevalence should ideally be assessed by longitudinal follow-up of a large population. Therefore, further multicenter and multidisciplinary studies are required to explore in detail the true incidence and the possible mechanisms of CPP after TBI. Because precocious puberty can be detected on clinical assessment during childhood, a pragmatic approach would be for family physicians to monitor growth and development in children after TBI. Inasmuch as precocity is mediated through the Hypothalamic-Pituitary pathways, use of LH-RH analogue therapy should be effective in arresting pubertal progression.
Avirachan T. Tharapel - One of the best experts on this subject based on the ideXlab platform.
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Jacobsen syndrome: report of a patient with severe eye anomalies, growth Hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
Journal of medical genetics, 1996Co-Authors: Eniko K. Pivnick, Gopalrao V.n. Velagaleti, R. S. Wilroy, M. E. Smith, S. R. Rose, R. E. Tipton, Avirachan T. TharapelAbstract:We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in Jacobsen syndrome. Endocrine evaluation showed growth Hormone deficiency and central hypothyroidism. Chromosome analysis showed a 46,XX,del(11)(q23q25) de novo karyotype. Cytogenetically, the deletion appeared to include most of bands 11q23 and q24 and a portion of q25. Using chromosome specific paint probe, a combination of chromosome 11 centromere, telomere, and region specific cosmid probes from 11q14.1-14.3, 11q23.3, and 11q24.1, we have localised the deletion breakpoint to q24.1. Phenotype-karyotype correlation of patients with Jacobsen syndrome and specific deletions of chromosome 11q has enabled us to suggest that the critical region for this syndrome lies in close proximity to cytogenetic band 11q24. Although growth retardation is a consistent finding in 11q deletion syndrome, the presence of Hypothalamic-Pituitary Hormone deficiency has not been reported previously.
L. A. Behan - One of the best experts on this subject based on the ideXlab platform.
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Neuroendocrine disorders after traumatic brain injury
Journal of neurology neurosurgery and psychiatry, 2008Co-Authors: L. A. Behan, Jack Phillips, Cj Thompson, A AghaAbstract:Traumatic brain injury (TBI) is the most common cause of death and disability in young adults living in industrialised countries, in which 180-250 persons per 100 000 per year die or are hospitalised as a result. Neuroendocrine derangements after TBI have received increasing recognition in recent years because of their potential contribution to morbidity, and possibly mortality, after trauma. Marked changes of the hypothalamo-pituitary axis have been documented in the acute phase of TBI, with as many as 80% of patients showing evidence of gonadotropin deficiency, 18% of growth Hormone deficiency, 16% of corticotrophin deficiency and 40% of patients demonstrating vasopressin abnormalities leading to diabetes insipidus or the syndrome of inappropriate anti-diuresis. Longitudinal prospective studies have shown that some of the early abnormalities are transient, whereas new endocrine dysfunctions become apparent in the post-acute phase. There remains a high frequency of Hypothalamic-Pituitary Hormone deficiencies among long-term survivors of TBI, with approximately 25% patients showing one or more pituitary Hormone deficiencies. This is a higher frequency than previously thought and suggests that most cases of post-traumatic hypopituitarism (PTHP) remain undiagnosed and untreated. PTHP has been associated with adverse outcome both in the acute and chronic phases after injury. These data underscore the need for the identification and appropriate timely management of Hormone deficiencies, in order to optimise patient recovery from head trauma, improve quality of life and avoid the long-term adverse consequences of untreated hypopituitarism.