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Term Occurence Count Dictionary
adrenal insufficiency 13 endocrinologydiseases
fludrocortisone 1 endocrinologydiseasesdrugs
hypokalemia 1 endocrinologydiseases
hypothyroidism 2 endocrinologydiseases
leukodystrophy 1 endocrinologydiseases
metabolic syndrome 1 endocrinologydiseases
mitochondrial disease 1 endocrinologydiseases
hypercalcemia 1 endocrinologydiseases
hypogonadism 2 endocrinologydiseases
hypoparathyroidism 1 endocrinologydiseases
lactic acidosis 1 endocrinologydiseases
cortisol 17 endocrinologydiseasesdrugs
hypoglycemia 2 endocrinologydiseases
obesity 1 endocrinologydiseases
testosterone 6 endocrinologydiseasesdrugs
congenital adrenal hyperplasia 3 endocrinologydiseases
hyperandrogenism 2 endocrinologydiseases
osteoporosis 1 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
cortisol 467 insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited
cortisol 1789 condition in which the adrenal cortex cannot produce adequate amounts of steroid hormones, primarily cortisol , but may also include impaired production of aldosterone and adrenal sex steroids. Recent molecular
cortisol 3341 recessive disorders associated with deficiencies in the enzymes and cofactor proteins required for cortisol biosynthesis ([6]). Cortisol deficiency increases ACTH production that subsequently leads to adrenocortical
cortisol 4432 stimulating hormone (α-MSH) are cleavage products of pro-opiomelanocortin (POMC). In patients with low cortisol levels as a consequence of adrenal disorders, POMC synthesis and consequently ACTH and MSH levels rise
cortisol 4947 degree of impairment of enzyme activity and there may be signs, symptoms and laboratory findings of cortisol deficiency, mineralocorticoid deficiency or excess, undervirilization or androgen excess in males and
cortisol 5145 in males and sexual infantilism or virilization in affected females. The main signs and symptoms of cortisol deficiency include anorexia, weight loss, fatigue, myalgia, joint pain, low blood pressure, orthostatic
cortisol 7610 steroids are synthesized by the action of cytochrome P450 11β-hydroxylase. Besides the last step of cortisol biosynthesis, cytochrome P450 11β-hydroxylase mediates the conversion of androstenedione and testosterone
cortisol 8532 for suppression of gonadal functions observed in poorly controlled 21OHD ([10]). Furthermore, 21-deoxy cortisol and 11oxC19 steroids showed the closest correlation with adrenal gland size and 11oxC19 steroids were
cortisol 10199 adrenal hypoplasia/dysplasia are associated with deficiency of all adrenocortical hormones (aldosterone, cortisol , androgens). Most common is DAX1 deficiency which is due to genetic defects in NR0B1, located on chromosome
cortisol 16785 of ACTH binding and signaling, namely FGD type 1 (FGD1) and type 2 (FGD2). FGD is characterized by cortisol deficiency together with a preserved renin-aldosterone axis. Children typically present with hypoglycemia
cortisol 21144 optimization of hydrocortisone treatment is critical to mimic the physiological circadian rhythm of cortisol secretion and to avoid excessive glucocorticoid exposure which is associated with poor long-term health
cortisol 21884 first-morning administration in patients with PAI. However, it is unable to deliver a sufficient early morning cortisol rise and to suppress ACTH and adrenal androgens in the morning by once-daily dosing. Plenadren failed
cortisol 22018 and adrenal androgens in the morning by once-daily dosing. Plenadren failed to achieve physiologic cortisol replacement in a small case series of children with non-CAH primary adrenal failure and secondary adrenal
cortisol 22599 doses provides release of hydrocortisone in the early hours of the morning, replicating a physiological cortisol secretion pattern. It also appears to achieve better control of excessive androgen synthesis produced
cortisol 23291 hydrocortisone infusion (CSHI) via a pump, similar to an insulin pump, is superior in achieving a better cortisol secretion profile and lowering ACTH concentrations in non-CAH PAI and in lowering serum androgens in
cortisol 27040 (5α)tetrahydrodehydrocorticosterone, (5β)THB: (5β)tetrahydrocorticosterone, THALDO: tetrahydroaldosterone, THS: tetrahydrodeoxy cortisol , THE: tetrahydrocortisone, (5α)THF: (5α)tetrahydrocortisolFigure 2Mitochondrial machinery involved
cortisol 27101 tetrahydroaldosterone, THS: tetrahydrodeoxycortisol, THE: tetrahydrocortisone, (5α)THF: (5α)tetrahydro cortisol Figure 2Mitochondrial machinery involved in the regulation of steroidogenesis. Access of cholesterol
fludrocortisone 20617 3.TreatmentReplacement of glucocorticoids and mineralocorticoids, particularly by hydrocortisone and fludrocortisone is the mainstay of treatment in adrenal insufficiency. Intravenous fluids and salt replacement should
testosterone 7713 cortisol biosynthesis, cytochrome P450 11β-hydroxylase mediates the conversion of androstenedione and testosterone into their respective 11-oxygenated products, namely 11β-hydroxyandrostenedione (11OHA4) and 11β-hydroxytestosterone
testosterone 7832 their respective 11-oxygenated products, namely 11β-hydroxyandrostenedione (11OHA4) and 11β-hydroxy testosterone (11OHT). These steroids are further converted to small amounts of 11-ketoandrostenedione (11KA4) and
testosterone 7953 These steroids are further converted to small amounts of 11-ketoandrostenedione (11KA4) and 11-keto testosterone (11KT) respectively, by the action of 11β-hydroxysteroid dehydrogenase, type 2. 11oxC19 steroids are
testosterone 8297 controls. In addition 11KT was found to be more closely associated with poor control in 21OHD than testosterone levels in both males and females. Therefore it has been hypothesized that 11KT is a major adrenal androgen,
testosterone 13043 spermatogenesis and infertility. NR5A1 gene defects should also be considered in 46,XY DSD cases with normal testosterone concentrations, similar to androgen receptor (AR) mutations or mild 5-α reductase, or mild 17-ketosteroid
testosterone 24386 androgens. Combined use of abiraterone with glucocorticoids can effectively lower androstenedione and testosterone metabolites in adult women with 21OHD without any potential side effects including hypertension and
Select Disease Character Offset Disease Term Instance
adrenal insufficiency 358 Diabetes, İstanbul, Turkey Publication date (ppub): 12/2017Publication date (epub): 12/2017AbstractPrimary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and
adrenal insufficiency 1605 characterize recent advances in the genetics and management of PAI in children.INTRODUCTIONPrimary adrenal insufficiency (PAI) is a relatively rare but potentially lethal clinical condition in which the adrenal cortex cannot
adrenal insufficiency 10612 should be screened for DAX1 deficiency, especially those with infertility, delayed/absent puberty or adrenal insufficiency in males from the maternal family. Adrenal insufficiency shows a bimodal distribution pattern of age
adrenal insufficiency 11864 non-random X inactivation ([17],[18]). Genetic counselling can help to identify family members at risk of adrenal insufficiency and female carriers.The SF1 protein, encoded by the nuclear receptor subfamily 5, group A, member 1
adrenal insufficiency 12487 homozygous inheritance. In contrast to DAX1-associated diseases, SF-1 deficiency only rarely causes adrenal insufficiency , but generally in combination with testicular dysgenesis. Isolated adrenal failure has rarely been reported
adrenal insufficiency 15006 mutations were reported. Early recognition of metaphyseal dysplasia accompanying early-onset, severe adrenal insufficiency is crucial for the diagnosis IMAGe syndrome. Delayed endochondral ossification, osteopenia, hypercalcemia,
adrenal insufficiency 18614 high level of suspicion for the possibility of an underlying mitochondrial disease in patients with adrenal insufficiency associated with sensorineural hearing loss, lactic acidosis and accompanying endocrine abnormalities
adrenal insufficiency 20665 mineralocorticoids, particularly by hydrocortisone and fludrocortisone is the mainstay of treatment in adrenal insufficiency . Intravenous fluids and salt replacement should be added to the treatment in stressful conditions and
adrenal insufficiency 22125 cortisol replacement in a small case series of children with non-CAH primary adrenal failure and secondary adrenal insufficiency ([35],[36],[37]). Plenadren is not yet licensed for use in the management of adrenal insufficiency in
adrenal insufficiency 22224 adrenal insufficiency ([35],[36],[37]). Plenadren is not yet licensed for use in the management of adrenal insufficiency in children, but is available for use in adult patients with a good safety profile ([38]). The second
adrenal insufficiency 24961 ([45]).CONCLUSIONPAI is a relatively rare but potentially lethal clinical condition in children. Early recognition of adrenal insufficiency can be difficult, although treatment is usually successful once it is initiated and, in most cases,
adrenal insufficiency 26408 disease-specific and personalized treatments for children with PAI.Table 1Aetiologies of inherited primary adrenal insufficiency in childrenTable 2Clinical and laboratory findings of different forms of congenital adrenal hyperplasia
adrenal insufficiency 29089 (including StAR, CYP11A1, CYP11B1, NNT, TXNRD2, GPX1, PRDX3) have been described in patients with primary adrenal insufficiency TSPO: translocator protein, VDAC: voltage dependent anion channel, ANT: adenine nucleotide transporter,
congenital adrenal hyperplasia 1363 disorders is key to develop innovative therapies for patients with PAI. The promising progress made in congenital adrenal hyperplasia treatment brings new perspectives for personalized treatment in children with PAI. The aim of this review
congenital adrenal hyperplasia 26503 primary adrenal insufficiency in childrenTable 2Clinical and laboratory findings of different forms of congenital adrenal hyperplasia and treatment goalsFigure 1Adrenal steroidogenesis showing the main enzymatic steps of the pathway,
congenital adrenal hyperplasia 30246 very-long-chain fatty acids, CK: creatinine kinase, US: ultrasound, CT: computerized tomography, CAH: congenital adrenal hyperplasia , GC: glucocorticoid, MC: mineralocorticoid, MRI: magnetic resonance imaging, ALD: adrenoleukodystrophy,
hyperandrogenism 24021 ([43]).Non-glucocorticoid adjuvant pharmacologic treatments for adrenal failure mainly target control of hyperandrogenism in CAH ([34]). Among them, abiraterone may be a promising alternative therapy that decreases the need
hyperandrogenism 24826 trial of eight CAH women at a single dose which showed a 40% reduction in morning ACTH rise to control hyperandrogenism ([45]).CONCLUSIONPAI is a relatively rare but potentially lethal clinical condition in children. Early
hypercalcemia 15120 insufficiency is crucial for the diagnosis IMAGe syndrome. Delayed endochondral ossification, osteopenia, hypercalcemia , and/or hypercalciuria of variable degree are among the early findings. Dysmorphic craniofacial features
hypoglycemia 5285 weight loss, fatigue, myalgia, joint pain, low blood pressure, orthostatic hypotension, hyponatremia, hypoglycemia , lymphocytosis and eosinophilia and in addition direct hyperbilirubinemia and apnea may be present in
hypoglycemia 16887 cortisol deficiency together with a preserved renin-aldosterone axis. Children typically present with hypoglycemia or hyperpigmentation in early infancy or in childhood. Some associated phenotypical features may also
hypogonadism 11075 phenotypes. Typically, they develop severe primary adrenal failure with salt-wasting. The hypogonadotropic hypogonadism may manifest as delayed puberty, impaired spermatogenesis or infertility which is explained by the expression
hypogonadism 18768 hearing loss, lactic acidosis and accompanying endocrine abnormalities (diabetes, hypoparathyroidism, hypogonadism , hypothyroidism) and multisystemic diseases (epilepsy, stroke, encephalopathy, cranial abnormalities,
hypokalemia 24499 metabolites in adult women with 21OHD without any potential side effects including hypertension and hypokalemia . However, it does not lower ACTH and inhibits gonadal sex-steroid secretion which limits its use in
hypoparathyroidism 18748 with sensorineural hearing loss, lactic acidosis and accompanying endocrine abnormalities (diabetes, hypoparathyroidism , hypogonadism, hypothyroidism) and multisystemic diseases (epilepsy, stroke, encephalopathy, cranial
hypothyroidism 18782 lactic acidosis and accompanying endocrine abnormalities (diabetes, hypoparathyroidism, hypogonadism, hypothyroidism ) and multisystemic diseases (epilepsy, stroke, encephalopathy, cranial abnormalities, cardiac conduction
hypothyroidism 19792 deficiency, leads to a multisystemic disorder including PAI, nephrotic syndrome and ichthyosis, primary hypothyroidism , cryptorchidism, lymphopenia and neurological anomalies.Establishing a specific genetic diagnosis of
lactic acidosis 18680 mitochondrial disease in patients with adrenal insufficiency associated with sensorineural hearing loss, lactic acidosis and accompanying endocrine abnormalities (diabetes, hypoparathyroidism, hypogonadism, hypothyroidism)
leukodystrophy 30365 hyperplasia, GC: glucocorticoid, MC: mineralocorticoid, MRI: magnetic resonance imaging, ALD: adreno leukodystrophy , AHC: adrenal hypoplasia congenital, MCC: mucocutaneous candidiasis, NGS: next generation sequencing,
metabolic syndrome 21306 exposure which is associated with poor long-term health outcomes, including growth suppression, obesity, metabolic syndrome , diabetes and osteoporosis ([33]). These challenges have led to the development of new glucocorticoid
mitochondrial disease 18575 dysfunction (Table 1). Clinicians should have a high level of suspicion for the possibility of an underlying mitochondrial disease in patients with adrenal insufficiency associated with sensorineural hearing loss, lactic acidosis and
obesity 21297 glucocorticoid exposure which is associated with poor long-term health outcomes, including growth suppression, obesity , metabolic syndrome, diabetes and osteoporosis ([33]). These challenges have led to the development
osteoporosis 21339 long-term health outcomes, including growth suppression, obesity, metabolic syndrome, diabetes and osteoporosis ([33]). These challenges have led to the development of new glucocorticoid formulations and some adjuvant

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