It is a condition in which the body produces excess cortisol, due to the dysfunction of the pituitary gland, adrenal gland, or disturbance anywhere in the hpa hypothalamicpituitaryadrenal axis cushings syndrome in children results in retarded growth, disrupted puberty, obesity, and. Cushings syndrome is the collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. Cushings syndrome refers to the condition caused by excess cortisol in the body, regardless of the cause. Pdf cushings syndrome is a rare disorder caused by prolonged exposure to high levels of cortisol. Cushings syndrome screening and differential diagnosis. Since 1982, 59 children and adolescents 37 girls and 22 boys. The most common presenting symptoms were weight gain and delayed growth. Cushings syndrome cs is a clinical syndrome which comprises symptoms and signs reflecting excessive circulating glucocorticoid gc concentrations. An estimated 10 to 15 of every million people are affected a year and only about ten percent of these new cases occur in children. There is an equal sex incidence, and it accounts for approximately 75% of pediatric causes of cushings syndrome. Cushings syndrome is a collection of hormonal disorders resulting from high levels of the hormone cortisol. In this chapter, we present the causes and discuss the treatment of. Screening individuals with type 2 diabetes, which is asso.
Meg keil, ms, crnp winter, 2004 how is cushings syndrome cs in children different than in adults. Cushings syndrome affects about three times as many women as men. We analysed the clinical presentation, investigation, management and therapeutic outcome in 12 paediatric patients with cushings syndrome. In a recent study from the nih on childhood cs,3 32% children with cushings. Cushings disease orphanet journal of rare diseases. The often slowly progressive, nonspecific set of symptoms typical of cushings syndrome may not be noticed as a developing.
Although the oral route is most commonly associated with iatrogenic cushing. Pseudo cushings syndrome pcs is a group of conditions associated with clinical and biochemical features of cushing syndrome, but the hypercortisolemia is usually secondary to other factors. We report the clinical presenta tions of three children with cushings disease. In the pediatric age group cushings syndrome is most frequently caused by. The factors influencing the outcome of pediatric cushings. Cushing syndrome, disorder caused by overactivity of the adrenal cortex. Children and adolescents with bilateral nodular adrenal disease may have periodic or cyclic cushing s syndrome. Children and adolescents with ppnad frequently have periodic or cyclical cs. Prevalence of polycystic ovary syndrome in adolescents.
Paediatric cushings disease european journal bioscientifica. In most cases, it is caused by an abnormality in the adrenal or pituitary glands. Thank you for your interest in spreading the word about the bmj. The incidence of cs in the general population is about 25 cases per million per years, and only in 10% of cases this condition is diagnosed in children or adolescents. Cushings syndrome in childhood and adolescence, journal. Cushings syndrome is a rare disorder caused by prolonged exposure to high levels of cortisol. Pdf cushings syndrome cs results from prolonged exposure to. Bilateral nodular adrenal disease is an acthindependent cause of cushing s syndrome. Both cushing syndrome and cushing disease affect women more often than men. A small single centre case series n33 found that the mean time to diagnosis after the first presenting symptom of cushings syndrome was 6. Several tests are usually needed to diagnosis cushings. When cushings syndrome is caused by a pituitary tumor, it is called cushings disease. The condition is caused by prolonged exposure to excessive glucocortioids which can be.
Causes include certain tumours and glucocorticoid drug therapy for inflammatory disorders. If caused by a tumour of the pituitary gland, it is called cushing disease in 1932 american neurosurgeon harvey cushing described the clinical findings that provided the link between specific physical characteristics e. Most commonly, cushing syndrome in childhood results from the exogenous administration of glucocorticoids. Cushings disease, or pituitary acth dependent cushings syndrome, is a rare disease responsible for increased morbidity and mortality. This is the place where the most difficult challenges are faced head on, where the impossible becomes possible, and where families in search of. Skeletal development during childhood and adolescence, peak bone mass. For prepubertal children, and certainly for toddlers. Cushing syndrome cs in children is associated with residual impairment in measures of healthrelated. Partnering with parents to disclose klinefelter syndrome to their child. The investigation of suspected paediatric cushings syndrome hypercortisolaemia formulated by ingrid. Cushing, 2 in 1932, collected 12 similar cases and concluded that pituitary basophilism was the underlying lesion.
Hypercortisolemia cortisol overproduction causes cushing syndrome, most often when a pituitary adenoma a benign tumor produces an excess of acth, resulting in cushing disease. Cushings syndrome in childhood and adolescence is rare. The condition is caused by prolonged exposure to excessive glucocortioids which can be secreted endogenously or administered exogenously. Two children had the unusual presenting symptoms of an eating disorder and hemihypertrophy, respectively. Cushings syndrome is caused by exposure to glucocorticoids, which are used to treat inflammatory diseases, or by the bodys overproduction of cortisol, most often due to tumors of the pituitary gland or lung. Following confirmation of the presence of inappropriate hypercortisolemia, the accurate differential diagnosis to establish the pituitary as the source of. Signs and symptoms may include high blood pressure, abdominal obesity but with thin arms and legs, reddish stretch marks, a round red face, a fat lump between the shoulders, weak muscles, weak bones, acne, and fragile skin that heals poorly. Cushings syndrome is also known as hypercortisolism.
Its caused by having high levels of the hormone cortisol over a long time. Endogenous cushing syndrome endogenous hypercortisolemia is a rare condition in children and adolescents. The most common cause of cushing s syndrome in infants and toddlers is an adrenal tumor adenoma, carcinoma, or bilateral hyperplasia. Cs is a clinical syndrome caused by excessive circulating glucocorticoid concentrations. Results from a metaanalysis of 7 studies relating to latenight salivary cortisol testing in the diagnosis of cushing syndrome 947 patients aged 18 years, including 339 persons with cushing syndrome indicated that such testing has a sensitivity of 92%, a. Systemic therapy of cushings syndrome orphanet journal.
Many overweight people with hypertension or diabetes have some features of cushings syndrome. Mean age at diagnosis in the cushings disease patients was 11. Approximately 10% of new diagnoses each year are in children. Centre for endocrinology, william harvey research institute whri, charterhouse square, barts and the london school of medicine, london ec1m 6bq. Encyclopedia of endocrine diseases 2nd edition pdf. To investigate the prevalence of polycystic ovary syndrome pcos in adolescents and its association with obesity. Cushings syndrome childrens hospital of philadelphia. Cushings syndrome in women with polycystic ovaries and. Investigation, management and therapeutic outcome in 12. Pediatric cushings syndrome cs is rare in childhood and adolescence. Pitfalls of functional tests for the establishment of the. Cushings syndrome cs is very rare in childhood and adolescence, compared with the more common endocrine pathologies such as disorders of growth, puberty and thyroid which combine to make up the major part of paediatric endocrine practice. Cushings syndrome in childhood and adolescence robyn. Cushings syndrome is more often found in women than in.
Cushings disease is rare in children and adolescents. The efficacy and safety of these tests in children is still uncertain. Objective cushings syndrome in childhood and adolescence is rare. The clinical manifestations of the syndrome are different from those in adults, with. Predominant features are weight gain, growth failure, virilization, and headache.
It also results when an adenoma of the adrenal gland produces too much cortisol. This is a pdf file of an unedited manuscript that has been accepted. Quality of life and other outcomes in children treated for cushing. It is very important to rule out these conditions before making a diagnosis of cushings syndrome, as it may subject the patient to unnecessary investigations and possible harmful. It is characterised by normal size adrenals with micronodules that are pigmented dark or black in colour. Cushings syndrome is considered rare, yet unlike pcos it is curable. Cushing syndrome is an extremely rare entity in the paediatric and adolescent age groups, so not many cohort studies have been published in this population.
Cortisol helps your child s body respond to an illness or injury. It most often affects adults who are 20 to 50 years old. Prevalence of polycystic ovary syndrome in adolescents shawna b. In children and adolescents, an acthsecreting pituitary adenoma is the most common cause of. We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. It also stabilizes blood pressure and blood sugar levels. Diagnosis is frequently difficult, and requires a strict algorithm. Presenting signs and symptoms of cushing syndrome in children. Pdf cushings syndrome is an uncommon adrenal disorder in childhood and in young children it usually results from adrenal turnouts which may be.
Endogenous cushings syndrome cs is a relatively uncommon disease in children. Administration of supraphysiologic doses of glucocorticoids is the most common cause of cushings syndrome exogenous or iatrogenic cushings syndrome. It is caused by a pituitary adenoma that secretes adrenocorticotropic hormone acth, which stimulates secretion of cortisol by the adrenal glands. This is a rare form of cs, occurring in childhood and adolescence. Cushing syndrome and cushing disease endocrinology. Acth secretion extremely rare in pediatric patients. The term cushings disease refers to cushings syndrome, which is caused by excessive secretion of acth by a pituitary tumor, usually an adenoma noncancerous tumor.
Rivarola ma, mendilaharzu h, dahl v, heinrich jj, spada rp, mora h, bergada c, cullen m. Background and methods cushings syndrome is rare in children and adolescents. Several tests can be employed to firstly diagnose hypercortisolaemia and secondly identify the source of origin of it. Ectopic acth and corticotropinreleasing hormone production is another rare cause of cushings syndrome that accounts for less than 1% of cases in adolescents 2. Signs and symptoms of hypercortisolism are usually non specific.
Cushings disease cd in a stricter sense derives from pathologic adrenocorticotropic hormone acth secretion usually triggered by micro or macroadenoma of the pituitary gland. Its general incidence is 25 new cases per million of population per yr with a female to male preponderance of 9 to 1, and approximately 10% of these cases occur during childhood and adolescence. Cushings syndrome in children csrf cushings support. Pediatric cushings syndrome cs, caused by prolonged exposure to excessive exogenous or endogenous glucocorticoids, is a rare condition in childhood and adolescence. C ushing s syndrome cs is caused by prolonged supraphysiological levels of circulating cortisol.
Pediatric cushings disease and pituitary incidentaloma. Programs and services for cushings syndrome at boston childrens hospital for 150 years, families have come from around the corner and across the world, looking to boston childrens for answers. The condition is caused by prolonged exposure to excessive. The pituitary tumor causes increased growth of the adrenal cortex hyperplasia and increased cortisol production. Endogenous cushings syndrome is the result of ex cessive pituitary acth cushings disease or ectopic. Cushings syndrome can be divided into exogenous often iatrogenic or endogenous adrenocorticotropic hormone acthdependent categories. Pitfalls of functional tests for the establishment of the etiology of cushings. Pediatric cushings sy ndrome cs is rare in childhood and adolescence.
Cushing s syndrome, also called hypercortisolism, is a condition in which the body produces too much of the hormone cortisol. The most common cause of cushings syndrome in infants and toddlers is an adrenal tumor. Cushings syndrome in children diagnosis and treatment. In children under 7 years, adrenal causes of cushings syndrome make up roughly 15% of childhood cushings syndrome, including bilateral hyperplasia, adenoma, or carcinoma. Pdf cushings sy ndrome is an uncommon adrenal disorder in childhood and in young children it usually results from adrenal turnouts which may be. In contrast, cushings syndrome cs describes the complexity of clinical consequences triggered by excessive cortisol blood levels over extended periods of time. Management of cushing syndrome in children and adolescents. Six children with cushings disease and three with primary adrenal disease were identified. We analyzed the clinical presentation, diagnostic evaluation, and treatment of 59 patients with cushings syndrome bet. Although the oral route is most commonly associated with iatrogenic. Differential diagnosis of pediatric cushings syndrome. Cushing syndrome cushings syndrome excess cortisol due to any cause cushings disease excess cortisol due to pituitary micro adenoma an array of symptoms as a result of abnormally high levels of cortisol or other glucocorticoids in the blood 4.