Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances

Storr, Helen L; Chan, Li F.; Grossman, Ashley; Savage, Martin O.

doi:10.1016/j.tem.2007.03.005

Cited by 118 publications

(142 citation statements)

References 78 publications

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Section: Discussionmentioning

confidence: 99%

“…In the case of CD, trans-sphenoidal resection is the optimal approach, with pediatric cure rates of 45% to 97% [24,32,34]. For those who relapse with pituitary CD, this mostly occurs within the first 2 years post surgery [21,34]. Where relapse occurs, options include repeat trans-sphenoidal surgery, radiotherapy and mitotane, and if these fail, bilateral adrenalectomy will guarantee cure from CS but with the subsequent risk of Nelson syndrome [24], as observed in one of our subjects.…”

Section: Discussionmentioning

confidence: 99%

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Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre

et al. 2016

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What is Known:-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.-Several tests can be employed to firstly diagnose hypercortisolaemia and secondly, identify the source of origin of it. The efficacy and safety of these tests in children is still uncertain. What is New:-This study includes cases due to the different aetiologies of endogenous hypercortisolaemia (pituitary, adrenal and ectopic hypercortisolaemia) allowing us to compare the differences in presentation, diagnosis, management and long-term outcome between the groups.-There is a difference in the prevalence of Cushing syndrome symptoms and in the performance of the tests in our cohort compared to previously published studies in the literature. ABSTRACT:The diagnosis and management of paediatric Cushing syndrome (CS) is highly challenging. This study aims to characterise its presentation, diagnosis, management and outcome by a retrospective case review of 30 patients (14 females) followed at a single tertiary paediatric endocrinology centre over a 30-year period.At presentation, median age was 8.9 years (0.2-15.5) and the commonest manifestations were weight gain (23/30), hirsutism (17/30), acne (15/30) and hypertension (15/30). Growth retardation was present in 11/30. Median BMI was +2.1SDS (-6.5 -+4.6). Urinary Free Cortisol (UFC) was abnormal in 17/18 (94%), midnight cortisol in 27/27 (100%) and Low Dose Dexamethasone Suppression (LDDS) test in 20/20 (100%). High Dose Dexamethasone Suppression (HDDS) test was abnormal in: 6/6 (100%) of adrenal tumours, 1/10 (10%) of Cushing Disease (CD) and 1/2 (50%) of ectopic tumours. Bilateral Inferior Petrosal Sinus Sampling (IPSS) identified 5 CD cases and 1 ectopic tumour.All patients underwent surgery and subsequently required cortisol replacement. Final diagnoses were 16 CD, 11 adrenal disease, 2 ectopic ACTH-secreting lesions and 1 case of unidentified aetiology. One year post-diagnosis, median BMI was 0.5SDS (-2.5 -+3.7), hypertension was present in 4/14 (28%) and 43% (12/30) of individuals were off hydrocortisone. Conclusion:The prevalence of the clinical manifestations differs from that reported in other series.Screening tests were highly sensitive, with UFC, midnight cortisol and LDDS performing well. One year post-treatment, BMI and BP normalized in the majority of patients, and almost half of them were able to discontinue replacement hydrocortisone.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre

et al. 2016

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“…In childhood and adolescence, CD accounts for w75-80% of paediatric Cushing's syndrome cases, but is still rare (1). In children, the hypercortisolaemia of CD can cause severe morbidity, so early diagnosis, based on a series of standardised biochemical and radiological investigations, is essential (1)(2)(3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease

Dias¹,

Kumaran²,

Chan³

et al. 2010

European Journal of Endocrinology

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Objectives: Cushing's disease (CD) in prepubertal children is very rare and presents important diagnostic and therapeutic challenges. We report experience of the management of this subpopulation of CD patients. Study design/methods: Retrospective patient case note review. Results: Between 1985 and 2008, 17 prepubertal children (13M, 4F), aged 5.7-14.1 years presented to our centre for diagnosis and management of CD. All children had subnormal linear growth and excessive weight gain at presentation. A high proportion (85% of males, 75% of females) had evidence of excessive virilisation. Striae and hypertension were seen in 41% of patients. The investigation with highest sensitivity (100%) for CD was excessive increase of serum cortisol to i.v. CRH (mean increase 113%). Pituitary imaging performed in all the patients showed poor concordance with findings at surgery (31%). In contrast bilateral simultaneous inferior petrosal sinus sampling (BSIPSS), performed in 11/16 subjects showed a high correlation with surgical findings (91%). In 16 patients, transsphenoidal selective adenomectomy (TSS) achieved a cure rate of 44%. However, in the 11 patients who had pre-operative BSIPSS, the cure rate was 64%. Of the 16 patients, 9 patients who were not cured by TSS received external pituitary radiotherapy. Conclusions: Prepubertal CD had distinctive features with increased frequency in males, abnormal auxology and excessive virilisation. The cortisol response to i.v. CRH administration was particularly exuberant and contributed to diagnosis. BSIPSS was much more helpful than pituitary imaging in localisation of the microadenoma and was associated with improved cure rate by TSS.

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“…Endogenny zespół Cushinga u dzieci i młodzie-ży występuje bardzo rzadko [2]. Często, zwłaszcza w początkowym okresie choroby, stwarza duże trudności diagnostyczne.…”

Section: Dyskusjaunclassified

Psychiatric disorders as predominant symptom of hypercortisolism in 17 year-old girl with primary pigmented nodular adrenocortical disease

Kądziela¹,

Kucharská²,

Grela³

2014

Pediatr. Endocrinol.

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55 Kądziela K. i inni: Zaburzenia psychiczne jako dominujący objaw hiperkortyzolemii u 17-letniej pacjentki z pierwotną pigmentową chorobą guzkową nadnerczy STRESZCZENIE/ABSTRACTEndogenny zespół Cushinga u dzieci i młodzieży spowodowany chorobą nadnerczy stanowi tylko 15-20% przypadków endogennej hiperkortyzolemii. Rzadkość występowania, powolne narastanie objawów i różna manifestacja kliniczna utrudniają diagnostykę i wydłużają czas ustalenia rozpoznania. Przedstawiamy przypadek 17-letniej pacjentki z endogenną hiperkortyzolemią, u której wczesnym i dominującym objawem były zaburzenia lękowo-depresyjne. Od ujawnienia się choroby do postawienia rozpoznania upłynęło około 3 lat. W tym czasie była nieskutecznie leczona lekiem antydepresyjnym. W momencie rozpoczęcia diagnostyki endokrynologicznej stwierdzono pełny obraz zespołu Cushinga z powikłaniami w postaci cukrzycy i osteopenii. U pacjentki rozpoznano pierwotną pigmentową chorobę guzkową nadnerczy (PPNAD). Wykonano dwuetapową, całkowitą adrenalektomię, co doprowadziło do ustąpienia u niej wszystkich objawów zespołu Cushinga, w tym także zaburzeń psychicznych. Endokrynol. Ped. 13/2014;1(46):55-60.Endogenous Cushing's syndrome in children and adolescents as a result of adrenal glands disease happens in only 15-20% of cases of endogenous hypercortisolism. Rarity of the disease, the slow progress of symptoms and variable clinical manifestation usually delays the diagnosis. We present a case of 17-year-old girl with endogenous hypercortisolism, in whome the early and predominant symptoms were anxiety-depressive disorders. From the onset of disease to the final diagnosis passed about three years. During this time the patient was treated ineffectively with antidepressant drug. At the begining of endocrinological investigations typical clinical and biochemical findings of Cushing's syndrome were revealed with complications of hypercortisolism: diabetes and osteopenia. In a patient primary pigmented nodular adrenocortical disease (PPNAD) was diagnosed. Two-step, total adrenalectomy was performed, which led to withdrawal of all symptoms of Cushing's syndrome, including psychiatric disorders. Pediatr. Endocrinol. 13/2014;1(46):55-60. Zaburzenia psychiczne jako dominujący objaw hiperkortyzolemii u 17-letniej pacjentki z pierwotną pigmentową chorobą guzkową nadnerczy Psychiatric disorders as predominant symptom of hypercortisolism in 17 year-old girl with primary pigmented nodular adrenocortical disease

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Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances

Cited by 118 publications

References 78 publications

Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre

Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre

Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease

Psychiatric disorders as predominant symptom of hypercortisolism in 17 year-old girl with primary pigmented nodular adrenocortical disease

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