1/36. Adrenal functions in children with adrenoleukodystrophy.BACKGROUND: adrenoleukodystrophy refers to an inherited disorder that mainly affects the adrenal gland, and the nervous system. The most common type is X-linked adrenoleukodystrophy (XALD). The main presenting symptoms are behavioral changes. However, endocrinological manifestations are also important and need to be clarified especially adrenal insufficiency which is a lifethreatening condition that can be prevented. OBJECTIVE: To review the endocrinological and the adrenal functions in X-linked ALD. SUBJECTS AND METHOD: The medical records of four patients diagnosed with ALD at the endocrinology and Metabolic Unit, Department of pediatrics, King Chulalongkorn Memorial Hospital between 1998 and 2000 were reviewed. The diagnoses were confirmed by elevated very long chain fatty acid (VLCFA) levels and the typical changes seen on magnetic resonance imaging (MRI) of the brain. The adrenal functions in these patients were studied. RESULTS: All patients presented between 7-11 years of age with learning problems and behavioral changes, without symptoms of adrenal insufficiency such as nausea, vomiting and abdominal pain. However, the physical signs of adrenal insufficiency such as generalized hyperpigmentation particularly on the nipples, skin creases and genitalia were present. The laboratory investigations revealed normal blood sugar and serum electrolytes. The adrenal functions were revealed as follows. Basal ACTH levels were high in 2 cases (290, > 1,250 pg/mL). Basal cortisol level was low in 1 case. ACTH stimulation tests revealed subnormal responses in 3 cases. magnetic resonance imaging of the brain showed white matter degeneration in the occipital area in 2 cases and frontal area in 2 cases. CONCLUSION: adrenal insufficiency can be detected by laboratory evaluation despite the lack of symptoms, therefore, the adrenal function should be evaluated in X-ALD at diagnosis for proper management.- - - - - - - - - - ranking = 1keywords = adrenoleukodystrophy (Clic here for more details about this article) |
2/36. Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the x chromosome, gene 1] is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis. Inactivating mutations of DAX1 result in the X-linked form of AHC with associated hypogonadotropic hypogonadism. AHC usually reveals itself as adrenal failure in early infancy, although a wide range of phenotypic expression has been reported. We describe a patient who was diagnosed with adrenal failure at 6 wk of age, but who experienced recovery of adrenal function of several months' duration later in infancy. He subsequently failed to undergo puberty because of hypogonadotropic hypogonadism of pituitary origin, and he was also diagnosed with schizophrenia in early adulthood. Molecular genetic analyses revealed a complex rearrangement in DAX1, including a 2.2-kb deletion spanning the entire second exon and a small 27-bp insertion. The putative protein encoded by this mutated gene is 429 amino acids long. The initial 389 residues probably correspond to the wild-type DAX-1 sequence, whereas the last 40 amino acids are presumably completely unrelated, being transcribed from the intronic sequence adjacent to exon 1. in vitro functional analyses confirm the absence of repressor activity exerted by such mutant protein. These studies expand the genotypic and phenotypic spectrum of DAX-1 insufficiency in humans.- - - - - - - - - - ranking = 1.2977922382454E-6keywords = complex (Clic here for more details about this article) |
3/36. IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities; MIM 300290) is a multisystem disorder with a broad phenotype, which, if unrecognized, may result in major and possibly life-threatening complications. Initial clinical features overlap with those of Russell-silver syndrome (RSS) and isolated growth hormone (GH) deficiency, conditions from which it must be distinguished. We report an Australian male with adrenal hypoplasia congenita (AHC) in association with IMAGe syndrome. The patient had intrauterine growth restriction (IUGR) and dysmorphic features comprising small, low-set ears, micrognathia, bilateral cryptorchidism, micropenis, and skeletal abnormalities. Signs of adrenal insufficiency occurred at aged 4.6 years. Our patient differs from those previously described by the late onset of adrenal insufficiency and the presence of GH deficiency. IMAGe is a complex syndrome involving dysmorphic features; disorders of growth, gonadal, and adrenal function; and skeletal abnormalities.- - - - - - - - - - ranking = 1.2977922382454E-6keywords = complex (Clic here for more details about this article) |
4/36. Steroid withdrawal syndrome after successful treatment of Cushing's syndrome: a reminder.Steroid withdrawal syndrome (SWS) usually refers to relapse of the disease being treated after withdrawal of glucocorticoid therapy, or the symptoms of adrenal insufficiency which occur when glucocorticoids are rapidly reduced or stopped. A less well-recognised form of SWS is that which develops when patients experience a symptom complex similar to that of adrenal insufficiency despite acceptable cortisol levels. We describe three patients who presented with this form of SWS following surgical treatment for endogenous Cushing's syndrome. All responded well to a short-term increase in the dose of glucocorticoid replacement therapy, with the median duration of the syndrome being 10 months (range 6-10 months). Trough serum cortisol levels above 100 nmol/l, with peaks between 460 and 750 nmol/l were documented in the first two patients at presentation with SWS. It is thought that the syndrome may result from development of tolerance to glucocorticoids, and mediators considered to be important in its development include interleukin-6, corticotrophin-releasing hormone, vasopressin, and central noradrenergic and dopaminergic systems. The exact underlying mechanism for SWS remains unclear. However, with increasing recommendations for use of lower doses of replacement glucocorticoids, its incidence may increase. physicians need to be aware of this condition, which is self-limiting and easily treated by a temporary increase in the dose of glucocorticoid replacement therapy. It is possible that a slower glucocorticoid tapering regimen than that used in the standard postoperative management of patients undergoing pituitary surgery may reduce the risk of development of SWS.- - - - - - - - - - ranking = 2.5955844764908E-7keywords = complex (Clic here for more details about this article) |
5/36. Adrenomyeloneuropathy--report on a family.A family is reported in which there is one case of adrenomyeloneuropathy, one case of Addison's disease and at least three heterozygous females with spastic paraparesis and peripheral neuropathy. Adrenomyeloneuropathy has not been reported previously in scandinavia. The differences in the clinical picture between the sexes and at different ages are emphasized. Elevation of the levels of very-long-chain fatty acids in plasma is a characteristic feature of the disease and confirms the diagnosis. Some recent reports in the literature seem to provide some hope that the clinical manifestations of adrenomyeloneuropathy/adrenoleukodystrophy may be prevented.- - - - - - - - - - ranking = 0.40086200290922keywords = adrenoleukodystrophy, adrenomyeloneuropathy (Clic here for more details about this article) |
6/36. Reversible subclinical hypothyroidism in the presence of adrenal insufficiency.OBJECTIVE: To describe 3 different scenarios of reversible hypothyroidism in young patients with adrenal insufficiency. methods: We present 3 case reports of patients with adrenal insufficiency--one with delayed puberty, the second with type 1 diabetes and poor weight gain, and the third with hypoglycemia-related seizures and glucocorticoid deficiency--who had biochemical evidence of hypothyroidism. RESULTS: Our first patient (case 1) initially had a mildly elevated thyrotropin (thyroid-stimulating hormone or TSH) level and a normal free thyroxine (FT4) level that, on follow-up assessment, had progressed to persistent mild elevation of TSH and low FT4 concentration. The other 2 patients (cases 2 and 3) had low FT4 and mildly elevated TSH values at the time of diagnosis of adrenal insufficiency. In all 3 patients, the results of thyroid function tests normalized with use of physiologic doses of adrenal hormone replacement therapy, without thyroid hormone replacement. All 3 patients remained euthyroid after 4, 3, and 1 year of follow-up, respectively. CONCLUSION: These observations add insights into the complexities of the thyroadrenal interactions. These examples are important because thyroid hormone replacement in the setting of adrenal insufficiency could be unwarranted.- - - - - - - - - - ranking = 2.5955844764908E-7keywords = complex (Clic here for more details about this article) |
7/36. Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.glycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal hypoplasia, Duchenne muscular dystrophy, or both. Cytogenetic and molecular studies have localized these defects to a deletion involving the x chromosome at band Xp21, consistent with its X-linked recessive pattern of inheritance. Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, short stature, and hypogonadotropic hypogonadism. We report on a 6-year-old boy who, in addition to the CGKD phenotype described above, had ocular hypopigmentation consistent with Forsius-Eriksson ocular albinism, also known as type 2 ocular albinism or Aland Island eye disease. cytogenetic analysis shows an interstitial deletion in the short arm of the X-chromosome at Xp21.- - - - - - - - - - ranking = 5.1911689529816E-7keywords = complex (Clic here for more details about this article) |
8/36. adrenal insufficiency from bilateral adrenal hemorrhage.Bilateral adrenal hemorrhage is a rare cause of adrenal insufficiency in adults. Because of the nonspecific manifestations of adrenal insufficiency, antemortem diagnosis is difficult. Serial computed tomographic scans of the abdomen are a valuable adjunct in confirming the diagnosis of bilateral adrenal hemorrhage, which manifests as round or oval adrenal masses of high density that subsequently decrease in both size and density. The diagnosis should be suspected in any complex highly stressful illness, in the postoperative period, or in the presence of a coagulopathy in conjunction with hypotension, fever, or electrolyte disturbances. Herein we describe five patients in whom the computed tomographic scans suggested or confirmed the presence of bilateral adrenal hemorrhage. In three of the five patients, the presence of a circulating lupus anticoagulant was demonstrated. Once the diagnosis of adrenal hemorrhage is suspected, steroid replacement therapy should be initiated promptly.- - - - - - - - - - ranking = 2.5955844764908E-7keywords = complex (Clic here for more details about this article) |
9/36. Hypercalcaemia in acute adrenal insufficiency. A case report.A woman aged 62 developed a septic shock and pulmonary embolism after skin grafting for extensive burns. She was put on anticoagulants. A second shock led to renal insufficiency. Hypercalcaemia developed. A CT scan of the upper abdomen disclosed enlarged adrenal glands. An acute adrenal haemorrhage was suspected. The levels of cortisol were low in the plasma and urine and did not respond to ACTH stimulation. cortisone replacement therapy improved the condition of the patient and normalized plasma calcium levels. The mechanisms of hypercalcaemia in acute adrenal insufficiency are discussed. Multiple factors have been proposed: haemoconcentration, an increased affinity of plasma proteins for calcium, an increase in the filtrable calcium complexes, and an enhanced calcium mobilization of skeletal origin.- - - - - - - - - - ranking = 2.5955844764908E-7keywords = complex (Clic here for more details about this article) |
10/36. adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred.Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD. Pituitary-adrenal function studies were performed in 10 family members, including two affected males and four females identified as carriers of ALD/AMN. No pituitary-adrenal abnormality was found in the carriers. However, basal morning plasma adrenocorticotropic hormone (ACTH) levels were markedly elevated in the two males with ALD and AMN, despite the fact that they had no clinical signs of adrenal insufficiency and that morning plasma cortisol levels and their response to maximal exogenous ACTH stimulation appeared to be normal. In addition, the integrated 24-hour response to the administration were also subnormal in these two cases. Thus, people with ALD and AMN may have subclinical partial adrenocrotical insufficiency. No other endocrinologic dysfunction was identified.- - - - - - - - - - ranking = 0.70215500727305keywords = adrenoleukodystrophy, adrenomyeloneuropathy (Clic here for more details about this article) |
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