Abstract
Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to
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Gomez-Segovia, I;
Gallowitsch, H J;
Kresnik, E;
Kumnig, G;
Mikosch, P;
Lind, P
[1]
- Dept.of Nuclear Medicine and Endocrinology, LKH Klagenfurt (Austria)
Citation Formats
Gomez-Segovia, I, Gallowitsch, H J, Kresnik, E, Kumnig, G, Mikosch, P, and Lind, P.
Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case.
IAEA: N. p.,
2002.
Web.
Gomez-Segovia, I, Gallowitsch, H J, Kresnik, E, Kumnig, G, Mikosch, P, & Lind, P.
Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case.
IAEA.
Gomez-Segovia, I, Gallowitsch, H J, Kresnik, E, Kumnig, G, Mikosch, P, and Lind, P.
2002.
"Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case."
IAEA.
@misc{etde_20336767,
title = {Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case}
author = {Gomez-Segovia, I, Gallowitsch, H J, Kresnik, E, Kumnig, G, Mikosch, P, and Lind, P}
abstractNote = {Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to a total bilateral adrenalectomy. Postoperative 5 year follow up examinations. Documentation of the outcome and recovery of clinical signs,symptoms and laboratory findings, discussion about the most appropriate long-term substitution therapy. Familial anamnesis:affected family member was the father (micro nodular bilateral adrenocortical dysplasia), the aunt (pararenal incidentaloma, histologically lipoma) and a cousin (micro nodular adrenocortical dysplasia). Sequential analysis of the menin gene from the patient was negative.The detection of PRKAR1A gene mutation elucidated the pathogenic pathway of PPAMD in this family, which belongs to CNC pathology. Conclusion: The complex diagnostic situation in children/adolescents confirm the mainstay of clinical practice, the sequential performance of biochemical tests previous and in addition to visualizing studies. Additional studies supported the estimation of prognosis and further risk evaluation.}
journal = []
issue = {suppl.2}
volume = {1}
journal type = {AC}
place = {IAEA}
year = {2002}
month = {Sep}
}
title = {Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case}
author = {Gomez-Segovia, I, Gallowitsch, H J, Kresnik, E, Kumnig, G, Mikosch, P, and Lind, P}
abstractNote = {Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to a total bilateral adrenalectomy. Postoperative 5 year follow up examinations. Documentation of the outcome and recovery of clinical signs,symptoms and laboratory findings, discussion about the most appropriate long-term substitution therapy. Familial anamnesis:affected family member was the father (micro nodular bilateral adrenocortical dysplasia), the aunt (pararenal incidentaloma, histologically lipoma) and a cousin (micro nodular adrenocortical dysplasia). Sequential analysis of the menin gene from the patient was negative.The detection of PRKAR1A gene mutation elucidated the pathogenic pathway of PPAMD in this family, which belongs to CNC pathology. Conclusion: The complex diagnostic situation in children/adolescents confirm the mainstay of clinical practice, the sequential performance of biochemical tests previous and in addition to visualizing studies. Additional studies supported the estimation of prognosis and further risk evaluation.}
journal = []
issue = {suppl.2}
volume = {1}
journal type = {AC}
place = {IAEA}
year = {2002}
month = {Sep}
}