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Introduction: The prevalence and clinical significance of central adrenal insufficiency (CAI) in adult patients with Prader Willi Syndrome (PWS) remains unclear.
Aim: To assess the prevalence of CAI in adults with PWS and to analyse the effects of replacement therapy with hydrocortisone (HCT) in patients with suspected CAI.
Material and Methods: Twenty one adult patients with PWS were evaluated. Based on peak cortisol at the 30 minute of the high dose short Synacthen test (HDSST), patients were divided into three groups: CAI (central adrenal insufficiency) - peak cortisol <500nmol/L, intermediate (partial AI) - peak cortisol ≥500 nmol/L and <600 nmol/L and AS (adrenal sufficiency) - peak cortisol ≥ 600 nmol/L. In patients with diagnosed CAI HCT replacement treatment was initiated. Body weight, body fat percentage, signs, and symptoms of CAI were evaluated after 6 and 12 months of treatment.
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| Measure | Description | Time Frame |
|---|---|---|
| The prevalence of CAI in adult PWS patients based on HDSST. | The diagnosis of CAI was based on the high-dose short Synacthen test (HDSST). The following cut-off points were used:
| At first visit (before HCT treatment). |
| Symptoms of CAI before hydrocortisone substitution: fatigue | Incidence of the fatigue in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocorisone treatment: fatigue | Incidence of the fatigue in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocorisone treatment: fatigue | Incidence of the fatigue in the CAI, intermediate and the AS groups. | After 12 month HCT treatment |
| Symptoms of CAI before hydrocortisone substitution: loss of appetite | Incidence of loss of appetite in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocorisone treatment: loss of appetite | Incidence of loss of appetite in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocorisone treatment: loss of appetite |
| Measure | Description | Time Frame |
|---|---|---|
| Concentration of morning cortisol | Results of morning cortisol in the entire study group. | At first visit (before HCT treatment). |
| Concentration of ACTH | Results of ACTH in the entire study group. |
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Inclusion Criteria:
Exclusion Criteria:
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Consecutive patients with PWS, referred to the Department of Endocrinology Medical University of Warsaw.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Central Clinical Hospital Medical University of Warsaw | Warsaw | 02-097 | Poland |
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| ID | Term |
|---|---|
| D011218 | Prader-Willi Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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whole blood, serum
Incidence of loss of appetite in the CAI, intermediate and the AS groups. |
| After 12 month HCT treatment |
| Symptoms of CAI before hydrocortisone substitution: muscle weakness | Incidence of the muscle weakness in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocortisone treatment: muscle weakness | Incidence of the muscle weakness in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocortisone treatment: muscle weakness | Incidence of the muscle weakness in the CAI, intermediate and the AS groups. | After 12 month HCT treatment |
| Symptoms of CAI before hydrocortisone substitution: myalgia | Incidence of the myalgia in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocorisone treatment: myalgia | Incidence of the myalgia in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocorisone treatment: myalgia | Incidence of the myalgia in the CAI, intermediate and the AS groups. | After 12 month HCT treatment |
| Symptoms of CAI before hydrocortisone substitution: arthralgia | Incidence of the arthralgia in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocorisone treatment: arthralgia | Incidence of the arthralgia in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocorisone treatment: arthralgia | Incidence of the arthralgia in the CAI, intermediate and the AS groups. | After 12 month HCT treatment |
| Symptoms of CAI before hydrocortisone substitution: weight loss | Incidence of the weight loss (>3 kg) in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocorisone treatment: weight loss | Incidence of the weight loss (>3 kg) in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocorisone treatment: weight loss | Incidence of the weight loss (>3 kg) in the CAI, intermediate and the AS groups. | After 12 month HCT treatment |
| Symptoms of CAI before hydrocortisone substitution: nausea | Incidence of the nausea in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocorisone treatment: nausea | Incidence of the nausea in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocorisone treatment: nausea | Incidence of the nausea in the CAI, intermediate and the AS groups. | After 12 month HCT treatment |
| Symptoms of CAI before hydrocortisone substitution: vomiting | Incidence of the vomiting in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocorisone treatment: vomiting | Incidence of the vomiting in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocorisone treatment: vomiting | Incidence of the vomiting in the CAI, intermediate and the AS groups. | After 12 month HCT treatment |
| Symptoms of CAI before hydrocortisone substitution: abdominal pain | Incidence of the abdominal pain in the CAI, intermediate and the AS groups. | Before HCT treatment |
| Symptoms of CAI after 6 month hydrocorisone treatment: abdominal pain | Incidence of the abdominal pain in the CAI, intermediate and the AS groups. | After 6 month HCT treatment |
| Symptoms of CAI after 12 month hydrocorisone treatment: abdominal pain | Incidence of the abdominal pain in the CAI, intermediate and the AS groups. | After 12 month HCT treatment |
| BMI before hydrocortisone substitution in PWS patients with CAI | Measurement of weight and height will be combined to report BMI in kg/m^2. | Before HCT treatment |
| BMI after 6 month hydrocortisone substitution in PWS patients with CAI | Measurement of weight and height will be combined to report BMI in kg/m^2. | After 6 month HCT treatment |
| BMI after 12 month hydrocortisone substitution in PWS patients with CAI | Measurement of weight and height will be combined to report BMI in kg/m^2. | After 12 month HCT treatment |
| Body fat percentage before hydrocortisone substitution in PWS patients with CAI | Measurement of the body fat percentage using bioelectrical impedance method. | Before HCT treatment |
| Body fat percentage after 6 month hydrocortisone substitution in PWS patients with CAI | Measurement of the body fat percentage using bioelectrical impedance method. | After 6 month HCT treatment |
| Body fat percentage after 12 month hydrocortisone substitution in PWS patients with CAI | Measurement of the body fat percentage using bioelectrical impedance method. | After 12 month HCT treatment |
| At first visit (before HCT treatment). |
| Concentration of dihydroepiandrosterone sulfate | Results of dihydroepiandrosterone sulfate measurements in the entire study group. | At first visit (before HCT treatment). |
| Laboratory findings - short Synacthen test | Results of the short Synacthen test in the entire study group. | At first visit (before HCT treatment). |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |