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Article ; Online: Postoperative testing to predict recurrent Cushing disease in children.

Batista, Dalia L / Oldfield, Edward H / Keil, Margaret F / Stratakis, Constantine A

The Journal of clinical endocrinology and metabolism

2009 Volume 94, Issue 8, Page(s) 2757–2765

Abstract: Context: Postoperative testing after transsphenoidal surgery (TSS) for Cushing disease (CD) in children and its usefulness in predicting residual disease or recurrence are not well studied.: Objective: The objective of the study was to identify which ...

Abstract	Context: Postoperative testing after transsphenoidal surgery (TSS) for Cushing disease (CD) in children and its usefulness in predicting residual disease or recurrence are not well studied. Objective: The objective of the study was to identify which one of three tests that are routinely performed in our institution after TSS performs better in the identification of noncured patients or predict relapse for CD. Design: This was a retrospective review of clinical data of 72 children who received surgery for CD (age range 5.8-18.3 yr). Setting: The study was conducted at a tertiary care center. Methods: After TSS, plasma ACTH and serum cortisol (at 0800 h), urinary free cortisol (UFC) values and an ovine CRH (oCRH) stimulation test were obtained. Patients were followed up for 24-120 months by a formal protocol. Results: Of 72 children with CD, 66 (94%) achieved sustained remission after TSS. Two children had persistent disease after TSS, whereas four children appeared cured at first but relapsed later. All four had low or undetectable UFCs that were not different from cured patients (P > 0.0.1). Children who remained in remission had significantly lower morning ACTH and cortisol levels after TSS compared with those who relapsed (P < 0.001). During an oCRH stimulation test, ACTH and cortisol values were higher in patients who relapsed vs. those in remission (P <0.001). Lack of histological confirmation of an adenoma, normal serum cortisol or ACTH, a normal response to oCRH, and glucocorticoid replacement for less than 6 months after surgery were associated with relapse. Conclusion: In pediatric patients with CD, low UFCs after TSS are not good predictors of sustained remission; morning ACTH and cortisol values and/or an oCRH test after TSS predicted patients that recurred.
MeSH term(s)	Adolescent ; Adrenocorticotropic Hormone/blood ; Child ; Child, Preschool ; Corticotropin-Releasing Hormone ; Cushing Syndrome/blood ; Cushing Syndrome/diagnosis ; Cushing Syndrome/surgery ; Cushing Syndrome/urine ; Diagnostic Errors ; Female ; Humans ; Hydrocortisone/blood ; Hydrocortisone/urine ; Male ; Predictive Value of Tests ; Recurrence ; Retrospective Studies
Chemical Substances	Adrenocorticotropic Hormone (9002-60-2) ; Corticotropin-Releasing Hormone (9015-71-8) ; Hydrocortisone (WI4X0X7BPJ)
Language	English
Publishing date	2009-05-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2009-0302
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Article ; Online: Skeletal maturation in children with Cushing syndrome is not consistently delayed: the role of corticotropin, obesity, and steroid hormones, and the effect of surgical cure.

Lodish, Maya B / Gourgari, Evgenia / Sinaii, Ninet / Hill, Suvimol / Libuit, Laura / Mastroyannis, Spyridon / Keil, Margaret / Batista, Dalia L / Stratakis, Constantine A

The Journal of pediatrics

2014 Volume 164, Issue 4, Page(s) 801–806

Abstract: Objective: To assess skeletal maturity by measuring bone age (BA) in children with Cushing syndrome (CS) before and 1-year after transsphenoidal surgery or adrenalectomy, and to correlate BA with hormone levels and other measurements.: Study design: ... ...

Abstract	Objective: To assess skeletal maturity by measuring bone age (BA) in children with Cushing syndrome (CS) before and 1-year after transsphenoidal surgery or adrenalectomy, and to correlate BA with hormone levels and other measurements. Study design: This case series conducted at the National Institutes of Health Clinical Center included 93 children with Cushing disease (CD) (43 females; mean age, 12.3 ± 2.9 years) and 31 children with adrenocorticotropic hormone-independent CS (AICS) (22 females, mean age 10.3 ± 4.5 years). BA was obtained before surgery and at follow-up. Outcome measures were comparison of BA in CD vs AICS and analysis of the effects of hypercortisolism, insulin excess, body mass index, and androgen excess on BA. Results: Twenty-six of the 124 children (21.0%) had advanced BA, compared with the expected general population prevalence of 2.5% (P < .0001). Only 4 of 124 (3.2%) had delayed BA. The majority of children (76%) had normal BA. The average BA z-score was similar in the children with CD and those with AICS (0.6 ± 1.4 vs 0.5 ± 1.8; P = .8865). Body mass index SDS and normalized values of dehydroepiandrosterone, dehydroepiandrosterone sulfate, androsteonedione, estradiol, and testosterone were all significantly higher in the children with advanced BA vs those with normal or delayed BA. Fifty-nine children who remained in remission from CD had follow-up BA 1.2 ± 0.3 years after transsphenoidal surgery, demonstrating decreased BA z-score (1.0 ± 1.6 vs 0.3 ± 1.4; P < .0001). Conclusion: Contrary to common belief, endogenous CS in children appears to be associated with normal or even advanced skeletal maturation. When present, BA advancement in CS is related to obesity, insulin resistance, and elevated adrenal androgen levels and aromatization. This finding may have significant implications for treatment decisions and final height predictions in these children.
MeSH term(s)	Adrenocorticotropic Hormone/physiology ; Age Determination by Skeleton ; Bone Development ; Child ; Cushing Syndrome/complications ; Cushing Syndrome/physiopathology ; Cushing Syndrome/surgery ; Female ; Gonadal Steroid Hormones/physiology ; Humans ; Male ; Obesity/complications ; Obesity/physiopathology ; Retrospective Studies ; Time Factors
Chemical Substances	Gonadal Steroid Hormones ; Adrenocorticotropic Hormone (9002-60-2)
Language	English
Publishing date	2014-01-10
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2013.11.065
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Article ; Online: Diagnostic tests for children who are referred for the investigation of Cushing syndrome.

Batista, Dalia L / Riar, Jehan / Keil, Meg / Stratakis, Constantine A

Pediatrics

2007 Volume 120, Issue 3, Page(s) e575–86

Abstract: Objective: Endogenous Cushing syndrome in children is a rare disorder that is most frequently caused by pituitary or adrenocortical tumors. Diagnostic criteria have generally been derived from studies of adult patients despite significant differences in ...

Abstract	Objective: Endogenous Cushing syndrome in children is a rare disorder that is most frequently caused by pituitary or adrenocortical tumors. Diagnostic criteria have generally been derived from studies of adult patients despite significant differences in both the physiology of the hypothalamic-pituitary-adrenal axis and the epidemiology of Cushing syndrome in childhood. The purpose of this study was to identify the tests that most reliably and efficiently diagnose pituitary or adrenal tumors in a large cohort of pediatric patients with Cushing syndrome. Methods: A retrospective review of clinical data of children who were referred to a tertiary care center for evaluation for Cushing syndrome during the years 1997 to 2005 was conducted. A total of 125 consecutive children were studied retrospectively; 105 were found to have Cushing syndrome, which was confirmed histologically; and 20 children who did not have Cushing syndrome or any other endocrinopathy served as the control group. The following tests were performed in all children: midnight and morning cortisol, corticotropin hormone, urinary free cortisol and 17-hydroxycorticosteroid levels, ovine corticotropin-releasing hormone stimulation test, and overnight high-dosage dexamethasone suppression test. Imaging of the pituitary and adrenal glands was also obtained. The main outcome measure was the sensitivity of these parameters for the diagnosis and differential diagnosis of Cushing syndrome at 100% specificity. Results: A midnight cortisol value of > or = 4.4 microg/dL confirmed the diagnosis of Cushing syndrome in almost all children, with a sensitivity of 99% and a specificity of 100%. Suppression of morning cortisol levels > 20% in response to an overnight, high-dosage dexamethasone test excluded all patients with adrenal tumors and identified almost all patients with pituitary tumors (sensitivity: 97.5%; specificity: 100%). Conclusions: Our study suggests that among children who were referred for the evaluation of possible Cushing syndrome, a single cortisol value at midnight followed by overnight high-dosage dexamethasone test led to rapid and accurate confirmation and diagnostic differentiation, respectively, of hypercortisolemia caused by pituitary and adrenal tumors.
MeSH term(s)	17-Hydroxycorticosteroids/urine ; Adolescent ; Adrenal Gland Diseases/diagnosis ; Adrenal Glands/pathology ; Adrenocorticotropic Hormone/blood ; Case-Control Studies ; Child ; Child, Preschool ; Corticotropin-Releasing Hormone ; Cushing Syndrome/diagnosis ; Cushing Syndrome/etiology ; Dexamethasone/blood ; Female ; Follow-Up Studies ; Hormones ; Humans ; Hydrocortisone/blood ; Hydrocortisone/urine ; Magnetic Resonance Imaging ; Male ; Pituitary Function Tests ; Pituitary Gland/pathology ; Pituitary Neoplasms/diagnosis ; Predictive Value of Tests ; Referral and Consultation ; Retrospective Studies ; Sensitivity and Specificity ; Sex Distribution ; Tomography, X-Ray Computed
Chemical Substances	17-Hydroxycorticosteroids ; Hormones ; Dexamethasone (7S5I7G3JQL) ; Adrenocorticotropic Hormone (9002-60-2) ; Corticotropin-Releasing Hormone (9015-71-8) ; Hydrocortisone (WI4X0X7BPJ)
Language	English
Publishing date	2007-09
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	207677-9
ISSN	1098-4275 ; 0031-4005
ISSN (online)	1098-4275
ISSN	0031-4005
DOI	10.1542/peds.2006-2402
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Article: Endocrine abnormalities in patients with Fanconi anemia.

Giri, Neelam / Batista, Dalia L / Alter, Blanche P / Stratakis, Constantine A

The Journal of clinical endocrinology and metabolism

2007 Volume 92, Issue 7, Page(s) 2624–2631

Abstract: Background: Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited.: Objective: We ... ...

Abstract	Background: Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited. Objective: We studied a cohort of FA patients enrolled in the National Cancer Institute's Inherited Bone Marrow Failure Syndrome study. Study design and patients: Retrospective review of the medical records of 45 FA patients (ages 2-49 yr), 23 of whom were intensively evaluated at the National Institutes of Health. Anthropometric measurements, GH, IGF-I, IGF binding protein-3, thyroid, gonadal hormone, lipid levels, glucose homeostasis, brain imaging, and bone mineral density were obtained in these latter patients. Results: Endocrine abnormalities were present in 73%, including short stature and/or GH deficiency (51%), hypothyroidism (37%), midline brain abnormalities (17%) (these patients had very short stature and 60% were GH-deficient); abnormal glucose/insulin metabolism (39%); obesity (27%); dyslipidemia (55%); and metabolic syndrome (21%). Patients with any endocrine abnormality were shorter than those without; only GH deficiency correlated significantly with short stature (P = 0.01). In addition, 65% of peripubertal or postpubertal patients had gonadal dysfunction. Ninety-two percent of the patients 18 yr or older had osteopenia or osteoporosis. Conclusions: Endocrine dysfunction is widespread in children and adults with FA; we expand the FA phenotype to include early onset osteopenia/osteoporosis and lipid abnormalities. Despite the reputation of FA as a progressive, lethal disease, proper management of the full spectrum of FA-related endocrinopathy offers major opportunities to reduce morbidity and improve quality of life. Our findings emphasize the need for comprehensive endocrine and metabolic evaluation and long-term follow-up in patients with FA.
MeSH term(s)	Adolescent ; Adult ; Age Determination by Skeleton ; Body Height ; Body Weight ; Brain/pathology ; Child ; Child, Preschool ; Cohort Studies ; Endocrine System Diseases/complications ; Endocrine System Diseases/pathology ; Endocrine System Diseases/physiopathology ; Fanconi Anemia/complications ; Fanconi Anemia/physiopathology ; Female ; Glucose Intolerance/complications ; Glucose Intolerance/pathology ; Glucose Intolerance/physiopathology ; Human Growth Hormone/blood ; Human Growth Hormone/deficiency ; Humans ; Hypogonadism/complications ; Hypogonadism/pathology ; Hypogonadism/physiopathology ; Hypopituitarism/complications ; Hypopituitarism/pathology ; Hypopituitarism/physiopathology ; Hypothyroidism/complications ; Hypothyroidism/pathology ; Hypothyroidism/physiopathology ; Infant ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pituitary Gland/pathology ; Thyroid Hormones/blood
Chemical Substances	Thyroid Hormones ; Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2007-07
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2007-0135
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Article: Severe obesity confounds the interpretation of low-dose dexamethasone test combined with the administration of ovine corticotrophin-releasing hormone in childhood Cushing syndrome.

Batista, Dalia L / Courcoutsakis, Nikos / Riar, Jehan / Keil, Margaret F / Stratakis, Constantine A

The Journal of clinical endocrinology and metabolism

2008 Volume 93, Issue 11, Page(s) 4323–4330

Abstract: Context: Suppression of cortisol secretion with a low-dose dexamethasone (Dex) followed by the administration of ovine CRH (Dex-oCRH) is used in the evaluation of adults with a pseudo-Cushing syndrome state (PCSS) vs. Cushing syndrome (CS).: Objective! ...

Abstract	Context: Suppression of cortisol secretion with a low-dose dexamethasone (Dex) followed by the administration of ovine CRH (Dex-oCRH) is used in the evaluation of adults with a pseudo-Cushing syndrome state (PCSS) vs. Cushing syndrome (CS). Objective: The aim of the study was to determine the value of Dex-oCRH testing in the investigation of childhood CS. Design: We conducted a retrospective analysis of data from children evaluated for CS vs. PCSS from 1998-2006; body mass index Z (BMIZ) and height-for-age Z (HAZ) scores were estimated. Setting: A clinical research center was the setting for the study. Main outcome measures: The main outcomes were confirmation of the diagnosis of CS by histology and response to Dex-oCRH. Results: Thirty-two children (ages 3-17 yr) were studied: 11 had CS and 21 had PCSS; of the latter, 11 had a BMIZ score greater than 2. Children with CS had a mean HAZ score of -1.3+/-0.51 vs. 0.31+/-0.38 in nonobese and 0.71+/-0.39 in obese children (P<0.001). The previously established criterion of a cortisol of 1.4 microg/dl (38 nmol/liter) after Dex-oCRH identified all 10 normal children who were not very obese and those with CS; 5 of 11 normal children with more severe obesity had cortisol values greater than 1.4 microg/dl (38 nmol/liter) after Dex-oCRH, lowering the test specificity to 55%. Without consideration for obesity, an increase of the cutoff cortisol value after Dex-oCRH to 3.2 microg/dl (88 nmol/liter) will have 91% sensitivity and 95% specificity; the corresponding values for a cutoff of 2.2 microg/dl (61 nmol/liter) were 100 and 90.5%, respectively. Conclusion: Our study showed that height gain is a simple way of distinguishing children with PCCS from those with CS; the interpretation of Dex-oCRH in children is confounded by severe obesity, which limits the utility of this test.
MeSH term(s)	Adolescent ; Animals ; Body Height ; Body Mass Index ; Child ; Child, Preschool ; Corticotropin-Releasing Hormone ; Cushing Syndrome/complications ; Cushing Syndrome/diagnosis ; Dexamethasone ; Diagnosis, Differential ; Humans ; Hydrocortisone/blood ; Hydrocortisone/metabolism ; Obesity/complications ; Retrospective Studies ; Sheep
Chemical Substances	Dexamethasone (7S5I7G3JQL) ; Corticotropin-Releasing Hormone (9015-71-8) ; Hydrocortisone (WI4X0X7BPJ)
Language	English
Publishing date	2008-08-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2008-0985
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Article ; Online: Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma.

Farrell, William E / Azevedo, Monalisa F / Batista, Dalia L / Smith, Alastair / Bourdeau, Isabelle / Horvath, Anelia / Boguszewski, Margaret / Quezado, Martha / Stratakis, Constantine A

The Journal of clinical endocrinology and metabolism

2011 Volume 96, Issue 11, Page(s) E1905–14

Abstract: Context: Multiple endocrine neoplasia type 1 (MEN1) is caused by mutations in the menin (MEN1) gene. The mechanism(s) by which MEN1 mutations lead to pituitary tumor formation remain(s) unknown.: Objective: The aim of the study was to identify the ... ...

Abstract	Context: Multiple endocrine neoplasia type 1 (MEN1) is caused by mutations in the menin (MEN1) gene. The mechanism(s) by which MEN1 mutations lead to pituitary tumor formation remain(s) unknown. Objective: The aim of the study was to identify the pediatric MEN1-associated pituitary tumor transcriptome. Patients and methods: A patient harboring a MEN1 mutation (c.525C>G; p.H139D) who presented with an early-onset mammosomatotroph pituitary adenoma was studied. Microarray analysis was performed in the tumor sample and compared with the profile observed in normal pituitaries and in a sporadic mammosomatotropinoma. Validation of the microarray results was performed using quantitative real-time PCR and immunohistochemical analysis for selected genes. Results: In the MEN1-associated pituitary adenoma, 59 and 24 genes were found to be significantly up- and down-regulated, respectively. The up-regulated genes included those involved in cell growth and maintenance, apoptosis, growth arrest, and tumorigenesis. Moreover, we observed decreased expression in genes neuroendocrine in nature and related to growth or apoptosis. Only 21 of the 59 genes differentially expressed in the MEN1-associated adenoma showed a similar expression profile to that seen in the sporadic mammosomatotropinoma; for some genes an opposite expression profile was observed. Conclusions: We identified changes in the transcriptome that occur in pituitary GH- and PRL-producing cells after the loss of menin expression; some of the gene changes are necessary for tumor evolution, and others may be tertiary. Nevertheless, the rare overlap between the expression profiles of the MEN1 tumor vs. that of its sporadic counterpart suggests that these tumors evolve along different molecular pathways.
MeSH term(s)	Child ; Child, Preschool ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; Multiple Endocrine Neoplasia Type 1/genetics ; Multiple Endocrine Neoplasia Type 1/pathology ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/pathology
Language	English
Publishing date	2011-09-14
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2011-1127
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Article ; Online: Rubinstein-Taybi syndrome in diverse populations.

Tekendo-Ngongang, Cedrik / Owosela, Babajide / Fleischer, Nicole / Addissie, Yonit A / Malonga, Bryan / Badoe, Ebenezer / Gupta, Neerja / Moresco, Angélica / Huckstadt, Victoria / Ashaat, Engy A / Hussen, Dalia Farouk / Luk, Ho-Ming / Lo, Ivan F M / Hon-Yin Chung, Brian / Fung, Jasmine L F / Moretti-Ferreira, Danilo / Batista, Letícia Cassimiro / Lotz-Esquivel, Stephanie / Saborio-Rocafort, Manuel /

Badilla-Porras, Ramses / Penon Portmann, Monica / Jones, Kelly L / Abdul-Rahman, Omar A / Uwineza, Annette / Prijoles, Eloise J / Ifeorah, Ifeanyi Kanayo / Llamos Paneque, Arianne / Sirisena, Nirmala D / Dowsett, Leah / Lee, Sansan / Cappuccio, Gerarda / Kitchin, Carolyn Sian / Diaz-Kuan, Alicia / Thong, Meow-Keong / Obregon, María Gabriela / Mutesa, Leon / Dissanayake, Vajira H W / El Ruby, Mona O / Brunetti-Pierri, Nicola / Ekure, Ekanem Nsikak / Stevenson, Roger E / Muenke, Maximilian / Kruszka, Paul

American journal of medical genetics. Part A

2020 Volume 182, Issue 12, Page(s) 2939–2950

Abstract: Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. ... ...

Abstract	Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.
MeSH term(s)	Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Cohort Studies ; E1A-Associated p300 Protein/genetics ; Ethnic Groups/genetics ; Face/abnormalities ; Female ; Genetic Association Studies ; Genetics, Population ; Humans ; Infant ; International Agencies ; Male ; Middle Aged ; Mutation ; Prognosis ; Rubinstein-Taybi Syndrome/epidemiology ; Rubinstein-Taybi Syndrome/genetics ; Rubinstein-Taybi Syndrome/pathology ; Young Adult
Chemical Substances	E1A-Associated p300 Protein (EC 2.3.1.48) ; EP300 protein, human (EC 2.3.1.48)
Language	English
Publishing date	2020-09-27
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.61888
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Article ; Online: Blood pressure in pediatric patients with Cushing syndrome.

Lodish, Maya B / Sinaii, Ninet / Patronas, Nicholas / Batista, Dalia L / Keil, Meg / Samuel, Jonelle / Moran, Jason / Verma, Somya / Popovic, Jadranka / Stratakis, Constantine A

The Journal of clinical endocrinology and metabolism

2009 Volume 94, Issue 6, Page(s) 2002–2008

Abstract: Context: Hypertension (HTN) has been reported in up to 60% of children with Cushing syndrome (CS), but its course, side effects, and potential differences among various causes of CS have not been adequately studied.: Objective: The objective of the ... ...

Abstract	Context: Hypertension (HTN) has been reported in up to 60% of children with Cushing syndrome (CS), but its course, side effects, and potential differences among various causes of CS have not been adequately studied. Objective: The objective of the study was to measure blood pressure in pediatric patients with CS before and after transphenoidal surgery or adrenalectomy and identify side effects and rates of residual HTN. Design: Data from 86 children with corticotropinomas [Cushing disease (CD)] and 27 children with ACTH-independent CS (AICS) were analyzed. Results: Patients with CD and AICS had significant HTN before surgery; more patients with AICS had systolic HTN (SHTN) than with CD (74 vs. 44%, P = 0.0077), but the rate of diastolic HTN (DHTN) was similar. Both groups experienced significant decreases in SHTN immediately after transphenoidal surgery and adrenalectomy. One year postoperatively, both SHTN and DHTN were lower than the preoperative values in all patients, but as many as 16 and 4% of the patients with CD and 21 and 5% of the patients with AICS still had SHTN and DHTN, respectively. Higher blood pressure preoperatively correlated with cortisol levels. Two patients suffered serious side effects: one with multiple infarcts and another with hypertensive encephalopathy. Conclusions: Children with CS are at risk for residual HTN despite a significant improvement after surgical cure. HTN appears to correlate with the degree of hypercortisolemia. Serious HTN-related side effects, although rare, may occur during the perioperative period.
MeSH term(s)	Adolescent ; Adrenocorticotropic Hormone/physiology ; Blood Pressure/physiology ; Child ; Child, Preschool ; Cohort Studies ; Cushing Syndrome/complications ; Cushing Syndrome/physiopathology ; Cushing Syndrome/rehabilitation ; Cushing Syndrome/surgery ; Female ; Follow-Up Studies ; Humans ; Hypertension/etiology ; Hypertension/surgery ; Male ; Retrospective Studies ; Young Adult
Chemical Substances	Adrenocorticotropic Hormone (9002-60-2)
Language	English
Publishing date	2009-03-17
Publishing country	United States
Document type	Comparative Study ; Evaluation Study ; Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2008-2694
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Article ; Online: Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia.

Powell, Anathea C / Stratakis, Constantine A / Patronas, Nicholas J / Steinberg, Seth M / Batista, Dalia / Alexander, H Richard / Pingpank, James F / Keil, Meg / Bartlett, David L / Libutti, Steven K

Surgery

2008 Volume 143, Issue 6, Page(s) 750–758

Abstract: Background: We reviewed our experience with micronodular adrenal hyperplasia (MAH), its pigmented variant primary pigmented nodular adrenocortical disease (PPNAD), and the association with Carney's complex (CNC) to better characterize these disorders.!## ...

Abstract	Background: We reviewed our experience with micronodular adrenal hyperplasia (MAH), its pigmented variant primary pigmented nodular adrenocortical disease (PPNAD), and the association with Carney's complex (CNC) to better characterize these disorders. Methods: This retrospective study analyzes clinical data and operative reports of 34 patients identified with MAH and/or PPNAD who underwent resection between 1969 and 2006 at the Clinical Research Center, an inpatient research hospital at the National Institutes of Health. Symptoms and anthropometric and biochemical data were used to evaluate effect of resection. Results: Fifteen patients (44%) presented as adults and 19 (56%) as children. Twenty-five patients (74%) presented with noncyclic Cushing syndrome and 9 patients (26%) presented with cyclic Cushing syndrome. Thirty-one patients underwent bilateral resection; this was curative biochemically in 30 patients. Fourteen operations were performed laparoscopically (41%), and 20 were performed as open resections (59%). There was 1 postoperative complication in the laparoscopic group (7%) and 6 complications in the open group (30%; P = .20). Follow-up was available for 25 patients (74%). Statistically significant improvements in anthropometrics were observed for both adults and children. The most frequent manifestation of CNC requiring additional operation was cardiac myxoma, which was associated strongly with an atypical (cyclic) presentation of Cushing syndrome (P = .009). Conclusion: Cushing syndrome due to MAH and PPNAD may be cured by bilateral adrenal resection. All patients should be screened for manifestations of CNC at the time of adrenal diagnosis with particular attention to cardiac disease.
MeSH term(s)	Adolescent ; Adrenal Cortex Diseases/complications ; Adrenal Cortex Diseases/diagnosis ; Adrenal Cortex Diseases/surgery ; Adrenal Gland Neoplasms/diagnosis ; Adrenal Gland Neoplasms/etiology ; Adrenal Glands/pathology ; Adrenal Glands/physiopathology ; Adrenal Glands/surgery ; Adult ; Body Height/physiology ; Body Weight/physiology ; Child ; Child, Preschool ; Cushing Syndrome/diagnosis ; Cushing Syndrome/etiology ; Cushing Syndrome/surgery ; Female ; Heart Neoplasms/diagnosis ; Heart Neoplasms/etiology ; Humans ; Hyperplasia/complications ; Hyperplasia/diagnosis ; Hyperplasia/surgery ; Male ; Mass Screening ; Middle Aged ; Myxoma/diagnosis ; Myxoma/etiology ; Pigmentation Disorders/diagnosis ; Pigmentation Disorders/etiology ; Retrospective Studies
Language	English
Publishing date	2008-03-04
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	202467-6
ISSN	1532-7361 ; 0039-6060
ISSN (online)	1532-7361
ISSN	0039-6060
DOI	10.1016/j.surg.2008.03.022
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Article: Selective loss of MEG3 expression and intergenic differentially methylated region hypermethylation in the MEG3/DLK1 locus in human clinically nonfunctioning pituitary adenomas.

Gejman, Roger / Batista, Dalia L / Zhong, Ying / Zhou, Yunli / Zhang, Xun / Swearingen, Brooke / Stratakis, Constantine A / Hedley-Whyte, E Tessa / Klibanski, Anne

The Journal of clinical endocrinology and metabolism

2008 Volume 93, Issue 10, Page(s) 4119–4125

Abstract: Context: MEG3 is an imprinted gene encoding a novel noncoding RNA that suppresses tumor cell growth. Although highly expressed in the normal human pituitary, it is unknown which of the normal pituitary cell types and pituitary tumors express MEG3.: ... ...

Abstract	Context: MEG3 is an imprinted gene encoding a novel noncoding RNA that suppresses tumor cell growth. Although highly expressed in the normal human pituitary, it is unknown which of the normal pituitary cell types and pituitary tumors express MEG3. Objectives: Our objectives were 1) to investigate cell-type- and tumor-type-specific expression of MEG3 in the human pituitary and 2) to investigate whether methylation in the intergenic differentially methylated region (IG-DMR) at the DLK1/MEG3 locus is involved in the loss of MEG3 expression in tumors. Design and methods: RT-PCR, quantitative RT-PCR, Northern blot, and a combination of in situ hybridization and immunofluorescence were used to determine the cell-type- and tumor-type-specific MEG3 expression. Bisulfite treatment and PCR sequencing of genomic DNA were used to measure the CpG methylation status in the normal and tumor tissues. Five normal human pituitaries and 17 clinically nonfunctioning, 11 GH-secreting, seven prolactin-secreting, and six ACTH-secreting pituitary adenomas were used. Results: All normal human pituitary cell types express MEG3. However, loss of MEG3 expression occurs only in nonfunctioning pituitary adenomas of a gonadotroph origin. All other pituitary tumor phenotypes examined express MEG3. Hypermethylation of the IG-DMR at the DLK1/MEG3 locus is present in nonfunctioning pituitary adenomas. Conclusions: MEG3 is the first human gene identified expressed in multiple normal human pituitary cell types with loss of expression specifically restricted to clinically nonfunctioning pituitary adenomas. The IG-DMR hypermethylation may be an additional mechanism for MEG3 gene silencing in such tumors.
MeSH term(s)	Adenoma/genetics ; Adenoma/metabolism ; Adenoma/pathology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Calcium-Binding Proteins ; Child ; DNA Methylation ; DNA, Intergenic/genetics ; Female ; Gene Expression Regulation, Neoplastic ; Gene Silencing ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Male ; Membrane Proteins/genetics ; Middle Aged ; Pituitary Gland/metabolism ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/metabolism ; Pituitary Neoplasms/pathology ; Proteins/genetics ; Proteins/metabolism ; Quantitative Trait Loci/genetics ; RNA, Long Noncoding ; Tissue Distribution
Chemical Substances	Calcium-Binding Proteins ; DLK1 protein, human ; DNA, Intergenic ; Intercellular Signaling Peptides and Proteins ; MEG3 non-coding RNA, human ; Membrane Proteins ; Proteins ; RNA, Long Noncoding
Language	English
Publishing date	2008-07-15
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2007-2633
Database	MEDical Literature Analysis and Retrieval System OnLINE

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