-
Ear, Nose, & Throat Journal Aug 2017Cushing disease is a relatively rare cause of Cushing syndrome secondary to a hyperfunctioning pituitary adenoma. In addition to signs and symptoms of hypercortisolism,...
Cushing disease is a relatively rare cause of Cushing syndrome secondary to a hyperfunctioning pituitary adenoma. In addition to signs and symptoms of hypercortisolism, Cushing disease may present with diverse otolaryngic manifestations, which may guide diagnosis and management. We performed a retrospective chart review of patients who were found to have Cushing disease and who underwent transnasal transsphenoidal surgery for pituitary adenomas between January 1, 2007, and July 1, 2014, at a tertiary academic medical center. There were 37 consecutive patients in this series with Cushing disease caused by a pituitary adenoma. Fifteen (41%) patients complained of visual changes. Five (14%) patients suffered from obstructive sleep apnea. Four (11%) patients had thyroid disease. Other symptoms included hearing loss, vertigo, tinnitus, epistaxis, dysphagia, and salivary gland swelling. Although Cushing disease traditionally presents with classic "Cushingoid" systemic features, it also may present with various otolaryngic manifestations. A thorough workup by otolaryngologists is critical in the comprehensive management of these patients.
Topics: Adolescent; Adult; Aged; Child; Female; Humans; Male; Middle Aged; Natural Orifice Endoscopic Surgery; Nose; Otorhinolaryngologic Diseases; Pituitary ACTH Hypersecretion; Pituitary Neoplasms; Postoperative Complications; Retrospective Studies; Young Adult
PubMed: 28846797
DOI: 10.1177/014556131709600808 -
Journal of the Endocrine Society May 2019Although prolonged hypercortisolism is associated with increased mortality and substantial morbidity, the clinical signs and symptoms are wide ranging and often... (Review)
Review
Although prolonged hypercortisolism is associated with increased mortality and substantial morbidity, the clinical signs and symptoms are wide ranging and often nonspecific, contributing to challenges in diagnosis, as well as treatment delays. Greater awareness is needed among clinicians to help identify which patients should undergo biochemical screening for excess cortisol. Several biochemical tests are available, each with important caveats that should be considered in the context of the individual patient. Cortisol secretion varies widely, further complicating the biochemical diagnosis of hypercortisolism, which relies on the use of definitive cutoff values. Patients with hypercortisolism resulting from adrenal adenomas, including those discovered incidentally, often do not present with overt Cushingoid features (plethora, striae, muscle weakness, moon facies, ). However, the consequences of prolonged exposure to even slight elevations in cortisol levels are profound, including increased risk of diabetes, hypertension, fractures, cardiovascular events, and mortality. Because most cases of hypercortisolism resulting from an adrenal adenoma can be managed, it is imperative to identify patients at risk and initiate testing early for the best outcomes. The aim of this report is to increase awareness of the indications for screening for hypercortisolism and to review the biochemical screening tests and diagnosis for hypercortisolism associated with adrenal adenomas.
PubMed: 31069279
DOI: 10.1210/js.2018-00382 -
Medicine Dec 2017Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and... (Review)
Review
RATIONALE
Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype.
PATIENT CONCERNS
A 16-year-old boy was admitted because of excessive weight gain over 3 years and purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin pigmentation on his face, lip, and sclera.
DIAGNOSES
The patient was diagnosed as Carney complex.
INTERVENTIONS
the patient underwent right adrenalectomy and partial adrenalectomy of the left adrenal gland.
OUTCOME
Results of imaging showed bilateral adrenal nodular hyperplasia, multiple microcalcifications of the bilateral testes, and compression fracture of the thoracolumbar spine. Histopathological results confirmed multiple pigmented nodules in the adrenal glands. DNA sequencing revealed a nonsense mutation in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A; c.205C > T). After the second adrenalectomy, the Cushingoid features disappeared, and cortisol levels returned to normal.
LESSONS
Carney complex is a rare disease that lacks consistent genotype-phenotype correlations. Our patient, who carried a germline PRKAR1A nonsense mutation (c.205C > T), clinical features included spotty skin pigmentation, osteoporosis, and primary pigmented nodular adrenal disease. Adrenalectomy is the preferred treatment for Cushing syndrome due to primary pigmented nodular adrenal disease.
Topics: Adolescent; Adrenalectomy; Carney Complex; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Diagnosis, Differential; Humans; Male; Mutation; Polymerase Chain Reaction
PubMed: 29390296
DOI: 10.1097/MD.0000000000008999 -
JIMD Reports May 2019Impaired growth is common in patients with glycogen storage disease (GSD), who also may have "cherubic" facies similar to the "moon" facies of Cushing syndrome (CS). An...
Impaired growth is common in patients with glycogen storage disease (GSD), who also may have "cherubic" facies similar to the "moon" facies of Cushing syndrome (CS). An infant presented with moon facies, growth failure, and obesity. Laboratory evaluation of the hypothalamic-pituitary-adrenal (HPA) axis was consistent with CS. He was subsequently found to have liver disease, hypoglycemia, and a pathogenic variant in , leading to the diagnosis of GSD type IXa. The cushingoid appearance, poor linear growth and hypercortisolemia improved after treatment to prevent recurrent hypoglycemia. We suspect this child's HPA axis activation was "appropriate" and caused by chronic hypoglycemic stress, leading to increased glucocorticoid secretion that may have contributed to his poor growth and excessive weight gain. This is in contrast to typical CS, which is due to excessive adrenocorticotropic hormone (ACTH) or cortisol secretion from neoplastic pituitary or adrenal glands, ectopic secretion of ACTH or corticotropin-releasing hormone (CRH), or exogenous administration of corticosteroid or ACTH. Pseudo-CS is a third cause of excessive glucocorticoid secretion, has no HPA axis pathology, is most often associated with underlying psychiatric disorders or obesity in children and, by itself, is thought to be benign. We speculate that some diseases, including chronic hypoglycemic disorders such as the GSDs, may have biochemical features and pathologic consequences of CS. We propose that excessive glucocorticoid secretion due to chronic stress be termed "stress-induced Cushing (SIC) syndrome" to distinguish it from the other causes of CS and pseudo-CS, and that evaluation of children with chronic hypoglycemia and poor statural growth include evaluation for CS.
PubMed: 31240162
DOI: 10.1002/jmd2.12031 -
European Journal of Pediatrics Mar 2015Iatrogenic Cushing syndrome induced by oral and parenteral corticosteroid administration is a well-known complication, and necessary precautions have to be taken....
UNLABELLED
Iatrogenic Cushing syndrome induced by oral and parenteral corticosteroid administration is a well-known complication, and necessary precautions have to be taken. Cushing syndrome, however, following treatment with glucocorticoid-containing eye drops is a very rare complication. To the best of our knowledge, there have been only four reported cases in the literature. Herein, we present an infant boy who developed Cushing syndrome after receiving dexamethasone-containing eye drops after bilateral cataract extraction to prevent postoperative inflammatory complications. At the age of 5 months, after approx. 3 months of dexamethasone therapy, the patient presented with cushingoid facies, nephrocalcinosis and failure to grow. Iatrogenic Cushing syndrome was diagnosed and dexamethasone-containing eye drops were reduced and eventually stopped. Follow-up examinations revealed catch-up growth.
CONCLUSION
Ocularly administered corticosteroids may have substantial systemic side effects in infants.
Topics: Cataract; Cataract Extraction; Cushing Syndrome; Dexamethasone; Glucocorticoids; Humans; Infant; Male; Ophthalmic Solutions; Postoperative Complications
PubMed: 25535172
DOI: 10.1007/s00431-014-2477-1 -
Tidsskrift For Den Norske Laegeforening... Sep 2020A man in his sixties with chronic obstructive pulmonary disease was hospitalised due to oedema and dyspnoea during the previous weeks. He was hypertensive, with 10 kg...
BACKGROUND/CASE PRESENTATION
A man in his sixties with chronic obstructive pulmonary disease was hospitalised due to oedema and dyspnoea during the previous weeks. He was hypertensive, with 10 kg weight gain, generalised oedema, proximal myopathy and moon face. The assessment was consistent with ectopic ACTH-dependent Cushing's syndrome. A 15 mm lung tumour was detected on CT, with inconclusive cytological examination, and negative FDG/PET CT and octreotide scintigraphy. He developed necrotising pancreatitis and a duodenal perforation, which were surgically treated. His cortisol levels and Cushingoid appearance normalised after surgery, and it was concluded that his hypercortisolism was part of a physiological response. He remained clinically in habitual shape until two years later, when he again developed Cushingoid stigmata. A new octreotide scintigraphy was negative, but FDG/PET CT revealed increased FDG uptake in the lung lesion. Before a lung biopsy was performed, the patient developed necrotising pancreatitis. He was treated conservatively and died in respiratory failure. Autopsy revealed a NET in the lung and necrotising pancreatitis.
INTERPRETATION
The case demonstrates diagnostic challenges in the assessment of ectopic ACTH-dependent cyclic Cushing's syndrome. Is also suggests that pancreatitis could be triggered by hypercortisolism.
Topics: ACTH Syndrome, Ectopic; Cushing Syndrome; Dyspnea; Edema; Humans; Lung Neoplasms; Male
PubMed: 32900170
DOI: 10.4045/tidsskr.19.0751 -
Endocrinology, Diabetes & Metabolism... 2016A functional lesion in corticotrophin (ACTH)-independent Cushing's syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for...
UNLABELLED
A functional lesion in corticotrophin (ACTH)-independent Cushing's syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and (131)I-6β-iodomethyl-19-norcholesterol ((131)I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL). No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and (131)I-NP-59 scintigraphy are good diagnostic methods for Cushing's syndrome presenting with bilateral adrenal masses.
LEARNING POINTS
The clinical presentation of Cushing' syndrome includes symptoms and signs of fat redistribution and protein-wasting features.The diagnosis of patients with ACTH-independent Cushing's syndrome with bilateral adrenal masses is challenging for localisation of the lesion.Both adrenal venous sampling and (131)I-NP-59 scintigraphy are good methods to use in these patients with Cushing's syndrome presenting with bilateral adrenal masses.
PubMed: 27252858
DOI: 10.1530/EDM-15-0118 -
Andes Pediatrica : Revista Chilena de... Jun 2021Drug interactions are undesirable events observed in clinical practice. In patients with HIV infection on antiretroviral therapy (ART), it is particularly important to...
INTRODUCTION
Drug interactions are undesirable events observed in clinical practice. In patients with HIV infection on antiretroviral therapy (ART), it is particularly important to bear in mind that many drugs com monly used in pediatrics can cause such interactions.
OBJECTIVE
to report a case of drug interaction between an antiretroviral drug (lopinavir/ritonavir) and inhaled corticosteroid in a child with HIV infection, and to review more frequent drug interactions in children on ART.
CLINICAL CASE
5-year- old male with history of stage N1 vertical transmitted HIV infection (1994 CDC classification), on ART from 8 months of age with zidovudine, lamivudine, and lopinavir/ritonavir, with successful virological and immunological outcome. Due to symptoms of allergic rhinitis (congestion, itchy nose, and nocturnal snoring) treatment with intranasal fluticasone was started. After 1 month of treatment, he developed cushingoid facies, weight gain, mixed dyslipidemia, insulin resistance, morning basal cortisol levels < 1 µg/dL, and Adrenocorticotropic hormone (ACTH) < 2 pg/ml, presenting ACTH stimulation test compatible with central adrenal insufficiency, attributed to a drug interaction with lopinavir/ritonavir due to known interaction. He started hydrocortisone replacement treatment, recovering hypothalamic-pituitary-adrenal axis function after 18 months.
CONCLUSION
Knowledge of this and other drug interactions between ART and drugs commonly used in pediatrics is essential for the comprehensive management of patients with HIV infection, especially in the prevention of unwanted adverse effects.
Topics: Administration, Inhalation; Anti-HIV Agents; Anti-Inflammatory Agents; Child, Preschool; Drug Combinations; Drug Interactions; Fluticasone; HIV Infections; Humans; Lopinavir; Male; Rhinitis, Allergic; Ritonavir
PubMed: 34479253
DOI: 10.32641/andespediatr.v92i3.3321 -
Case Reports in Endocrinology 2022Cushing syndrome is a state of hypercortisolism from exogenous or endogenous exposure to glucocorticoids resulting in various clinical manifestations. In this case...
Cushing syndrome is a state of hypercortisolism from exogenous or endogenous exposure to glucocorticoids resulting in various clinical manifestations. In this case report, we present a case of a 15-month-old child who presented with cushingoid facies due to over-the-counter misuse of a very potent topical steroid (clobetasol 0.05%) for suspected scabies. Laboratory measurement of urinary free cortisol level was low, and 8 : 00 am basal cortisol level was measured, which was decreased, which confirmed the diagnosis of Cushing syndrome due to exogenous source. Over-the-counter topical steroids should not be used, and one should always consult a registered medical practitioner before using such products. Physicians when prescribing topical steroids should warn patients about the potential side effects of prolonged use of topical steroids.
PubMed: 35444835
DOI: 10.1155/2022/8487737