Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation
Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair....
Ausführliche Beschreibung
Autor*in: |
Mendiratta, Meenal S [verfasserIn] Yang, Yaping [verfasserIn] Balazs, Andrea E [verfasserIn] Willis, Alecia S [verfasserIn] Eng, Christine M [verfasserIn] Karaviti, Lefkothea P [verfasserIn] Potocki, Lorraine [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2011 |
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Schlagwörter: |
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Übergeordnetes Werk: |
Enthalten in: International journal of pediatric endocrinology - New York, NY : BMC, Part of Springer Nature, 2009, 2011(2011), 1 vom: 06. Juli |
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Übergeordnetes Werk: |
volume:2011 ; year:2011 ; number:1 ; day:06 ; month:07 |
Links: |
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DOI / URN: |
10.1186/1687-9856-2011-5 |
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Katalog-ID: |
SPR031964702 |
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10.1186/1687-9856-2011-5 doi (DE-627)SPR031964702 (SPR)1687-9856-2011-5-e DE-627 ger DE-627 rakwb eng 610 ASE Mendiratta, Meenal S verfasserin aut Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. Adrenal Insufficiency (dpeaa)DE-He213 Corticotrophin Release Hormone (dpeaa)DE-He213 Neonatal Jaundice (dpeaa)DE-He213 Melanocyte Stimulate Hormone (dpeaa)DE-He213 ACTH Deficiency (dpeaa)DE-He213 Yang, Yaping verfasserin aut Balazs, Andrea E verfasserin aut Willis, Alecia S verfasserin aut Eng, Christine M verfasserin aut Karaviti, Lefkothea P verfasserin aut Potocki, Lorraine verfasserin aut Enthalten in International journal of pediatric endocrinology New York, NY : BMC, Part of Springer Nature, 2009 2011(2011), 1 vom: 06. Juli (DE-627)614817005 (DE-600)2528691-2 1687-9856 nnns volume:2011 year:2011 number:1 day:06 month:07 https://dx.doi.org/10.1186/1687-9856-2011-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2011 2011 1 06 07 |
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10.1186/1687-9856-2011-5 doi (DE-627)SPR031964702 (SPR)1687-9856-2011-5-e DE-627 ger DE-627 rakwb eng 610 ASE Mendiratta, Meenal S verfasserin aut Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. Adrenal Insufficiency (dpeaa)DE-He213 Corticotrophin Release Hormone (dpeaa)DE-He213 Neonatal Jaundice (dpeaa)DE-He213 Melanocyte Stimulate Hormone (dpeaa)DE-He213 ACTH Deficiency (dpeaa)DE-He213 Yang, Yaping verfasserin aut Balazs, Andrea E verfasserin aut Willis, Alecia S verfasserin aut Eng, Christine M verfasserin aut Karaviti, Lefkothea P verfasserin aut Potocki, Lorraine verfasserin aut Enthalten in International journal of pediatric endocrinology New York, NY : BMC, Part of Springer Nature, 2009 2011(2011), 1 vom: 06. Juli (DE-627)614817005 (DE-600)2528691-2 1687-9856 nnns volume:2011 year:2011 number:1 day:06 month:07 https://dx.doi.org/10.1186/1687-9856-2011-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2011 2011 1 06 07 |
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10.1186/1687-9856-2011-5 doi (DE-627)SPR031964702 (SPR)1687-9856-2011-5-e DE-627 ger DE-627 rakwb eng 610 ASE Mendiratta, Meenal S verfasserin aut Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. Adrenal Insufficiency (dpeaa)DE-He213 Corticotrophin Release Hormone (dpeaa)DE-He213 Neonatal Jaundice (dpeaa)DE-He213 Melanocyte Stimulate Hormone (dpeaa)DE-He213 ACTH Deficiency (dpeaa)DE-He213 Yang, Yaping verfasserin aut Balazs, Andrea E verfasserin aut Willis, Alecia S verfasserin aut Eng, Christine M verfasserin aut Karaviti, Lefkothea P verfasserin aut Potocki, Lorraine verfasserin aut Enthalten in International journal of pediatric endocrinology New York, NY : BMC, Part of Springer Nature, 2009 2011(2011), 1 vom: 06. Juli (DE-627)614817005 (DE-600)2528691-2 1687-9856 nnns volume:2011 year:2011 number:1 day:06 month:07 https://dx.doi.org/10.1186/1687-9856-2011-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2011 2011 1 06 07 |
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10.1186/1687-9856-2011-5 doi (DE-627)SPR031964702 (SPR)1687-9856-2011-5-e DE-627 ger DE-627 rakwb eng 610 ASE Mendiratta, Meenal S verfasserin aut Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. Adrenal Insufficiency (dpeaa)DE-He213 Corticotrophin Release Hormone (dpeaa)DE-He213 Neonatal Jaundice (dpeaa)DE-He213 Melanocyte Stimulate Hormone (dpeaa)DE-He213 ACTH Deficiency (dpeaa)DE-He213 Yang, Yaping verfasserin aut Balazs, Andrea E verfasserin aut Willis, Alecia S verfasserin aut Eng, Christine M verfasserin aut Karaviti, Lefkothea P verfasserin aut Potocki, Lorraine verfasserin aut Enthalten in International journal of pediatric endocrinology New York, NY : BMC, Part of Springer Nature, 2009 2011(2011), 1 vom: 06. Juli (DE-627)614817005 (DE-600)2528691-2 1687-9856 nnns volume:2011 year:2011 number:1 day:06 month:07 https://dx.doi.org/10.1186/1687-9856-2011-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2011 2011 1 06 07 |
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10.1186/1687-9856-2011-5 doi (DE-627)SPR031964702 (SPR)1687-9856-2011-5-e DE-627 ger DE-627 rakwb eng 610 ASE Mendiratta, Meenal S verfasserin aut Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. Adrenal Insufficiency (dpeaa)DE-He213 Corticotrophin Release Hormone (dpeaa)DE-He213 Neonatal Jaundice (dpeaa)DE-He213 Melanocyte Stimulate Hormone (dpeaa)DE-He213 ACTH Deficiency (dpeaa)DE-He213 Yang, Yaping verfasserin aut Balazs, Andrea E verfasserin aut Willis, Alecia S verfasserin aut Eng, Christine M verfasserin aut Karaviti, Lefkothea P verfasserin aut Potocki, Lorraine verfasserin aut Enthalten in International journal of pediatric endocrinology New York, NY : BMC, Part of Springer Nature, 2009 2011(2011), 1 vom: 06. Juli (DE-627)614817005 (DE-600)2528691-2 1687-9856 nnns volume:2011 year:2011 number:1 day:06 month:07 https://dx.doi.org/10.1186/1687-9856-2011-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2011 2011 1 06 07 |
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Mendiratta, Meenal S |
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early onset obesity and adrenal insufficiency associated with a homozygous pomc mutation |
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Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation |
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Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. |
abstractGer |
Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. |
abstract_unstemmed |
Abstract Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype. |
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Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. 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