The Experts below are selected from a list of 234 Experts worldwide ranked by ideXlab platform
Yumie Rhee - One of the best experts on this subject based on the ideXlab platform.
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untreated congenital adrenal hyperplasia with 17 α hydroxylase 17 20 lyase deficiency presenting as massive adrenocortical tumor
Endocrinology and Metabolism, 2015Co-Authors: Su Jin Lee, Je Eun Song, Sena Hwang, Ji Yeon Lee, Hye Sun Park, Seunghee Han, Yumie RheeAbstract:Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, Sexual Infantilism in women, and pseudohermaphroditism in men. hypertension, and Sexual Infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.
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Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor
Endocrinology and metabolism (Seoul Korea), 2015Co-Authors: Su Jin Lee, Je Eun Song, Sena Hwang, Ji Yeon Lee, Hye Sun Park, Seunghee Han, Yumie RheeAbstract:Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, Sexual Infantilism in women, and pseudohermaphroditism in men. hypertension, and Sexual Infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.
Omid Khorram - One of the best experts on this subject based on the ideXlab platform.
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An unusual case of ovarian resistance syndrome.
Obstetrics and gynecology, 2003Co-Authors: Simone Katz, John Marshall, Omid KhorramAbstract:Women who present with elevated gonadotropins, primary amenorrhea, and Sexual Infantilism usually have an abnormal karyotype or premature ovarian failure. We describe a rare case of ovarian resistance secondary to a gonadotropin post-receptor defect. An 18-year-old presented with amenorrhea and Sexual Infantilism. Original workup led physicians to believe the patient had uterine agenesis with premature ovarian failure. Ovarian biopsy proved the presence of follicles. After 48 months on hormone replacement, the patient went through the stages of puberty, including menarche. Re-evaluation proved the presence of a uterus. Ovarian resistance is a rare cause of hypergonadotropic hypogonadism. With this type of ovarian dysfunction, women present early in life with amenorrhea, elevated gonadotropins, and normal karyotypes.
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An unusual case of ovarian resistance syndrome.
Obstetrics & Gynecology, 2003Co-Authors: Simone Katz, John R. Marshall, Omid KhorramAbstract:Abstract Background Women who present with elevated gonadotropins, primary amenorrhea, and Sexual Infantilism usually have an abnormal karyotype or premature ovarian failure. We describe a rare case of ovarian resistance secondary to a gonadotropin post-receptor defect. Case An 18-year-old presented with amenorrhea and Sexual Infantilism. Original workup led physicians to believe the patient had uterine agenesis with premature ovarian failure. Ovarian biopsy proved the presence of follicles. After 48 months on hormone replacement, the patient went through the stages of puberty, including menarche. Re-evaluation proved the presence of a uterus. Conclusion Ovarian resistance is a rare cause of hypergonadotropic hypogonadism. With this type of ovarian dysfunction, women present early in life with amenorrhea, elevated gonadotropins, and normal karyotypes.
Su Jin Lee - One of the best experts on this subject based on the ideXlab platform.
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untreated congenital adrenal hyperplasia with 17 α hydroxylase 17 20 lyase deficiency presenting as massive adrenocortical tumor
Endocrinology and Metabolism, 2015Co-Authors: Su Jin Lee, Je Eun Song, Sena Hwang, Ji Yeon Lee, Hye Sun Park, Seunghee Han, Yumie RheeAbstract:Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, Sexual Infantilism in women, and pseudohermaphroditism in men. hypertension, and Sexual Infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.
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Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor
Endocrinology and metabolism (Seoul Korea), 2015Co-Authors: Su Jin Lee, Je Eun Song, Sena Hwang, Ji Yeon Lee, Hye Sun Park, Seunghee Han, Yumie RheeAbstract:Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, Sexual Infantilism in women, and pseudohermaphroditism in men. hypertension, and Sexual Infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.
Simone Katz - One of the best experts on this subject based on the ideXlab platform.
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An unusual case of ovarian resistance syndrome.
Obstetrics and gynecology, 2003Co-Authors: Simone Katz, John Marshall, Omid KhorramAbstract:Women who present with elevated gonadotropins, primary amenorrhea, and Sexual Infantilism usually have an abnormal karyotype or premature ovarian failure. We describe a rare case of ovarian resistance secondary to a gonadotropin post-receptor defect. An 18-year-old presented with amenorrhea and Sexual Infantilism. Original workup led physicians to believe the patient had uterine agenesis with premature ovarian failure. Ovarian biopsy proved the presence of follicles. After 48 months on hormone replacement, the patient went through the stages of puberty, including menarche. Re-evaluation proved the presence of a uterus. Ovarian resistance is a rare cause of hypergonadotropic hypogonadism. With this type of ovarian dysfunction, women present early in life with amenorrhea, elevated gonadotropins, and normal karyotypes.
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An unusual case of ovarian resistance syndrome.
Obstetrics & Gynecology, 2003Co-Authors: Simone Katz, John R. Marshall, Omid KhorramAbstract:Abstract Background Women who present with elevated gonadotropins, primary amenorrhea, and Sexual Infantilism usually have an abnormal karyotype or premature ovarian failure. We describe a rare case of ovarian resistance secondary to a gonadotropin post-receptor defect. Case An 18-year-old presented with amenorrhea and Sexual Infantilism. Original workup led physicians to believe the patient had uterine agenesis with premature ovarian failure. Ovarian biopsy proved the presence of follicles. After 48 months on hormone replacement, the patient went through the stages of puberty, including menarche. Re-evaluation proved the presence of a uterus. Conclusion Ovarian resistance is a rare cause of hypergonadotropic hypogonadism. With this type of ovarian dysfunction, women present early in life with amenorrhea, elevated gonadotropins, and normal karyotypes.
Sena Hwang - One of the best experts on this subject based on the ideXlab platform.
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untreated congenital adrenal hyperplasia with 17 α hydroxylase 17 20 lyase deficiency presenting as massive adrenocortical tumor
Endocrinology and Metabolism, 2015Co-Authors: Su Jin Lee, Je Eun Song, Sena Hwang, Ji Yeon Lee, Hye Sun Park, Seunghee Han, Yumie RheeAbstract:Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, Sexual Infantilism in women, and pseudohermaphroditism in men. hypertension, and Sexual Infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.
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Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor
Endocrinology and metabolism (Seoul Korea), 2015Co-Authors: Su Jin Lee, Je Eun Song, Sena Hwang, Ji Yeon Lee, Hye Sun Park, Seunghee Han, Yumie RheeAbstract:Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, Sexual Infantilism in women, and pseudohermaphroditism in men. hypertension, and Sexual Infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.