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Familial Cushing's Disease

Qiuli Liu, Dali Tong, Jing Xu, Xingxia Yang, Yuting Yi, Dianzheng Zhang, Luofu Wang, Jun Zhang, Yao Zhang, Yaoming Li, Lianpeng Chang, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang
BACKGROUND: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis. In many familial cases of BMAH, mutations in armadillo repeat containing 5 (ARMC5), a putative tumor suppressor gene, are thought to induce the disorder. The objective of this study was to report a case in which the patient presented with BMAH induced by a novel heterozygous germline ARMC5 mutation (c...
March 27, 2018: BMC Medical Genetics
Qian Zhang, Liang Cui, Jiang-Ping Gao, Wen-Hua Yan, Nan Jin, Kang Chen, Li Zang, Jin Du, Xian-Ling Wang, Qing-Hua Guo, Guo-Qing Yang, Li-Juan Yang, Jian-Ming Ba, Wei-Jun Gu, Zhao-Hui Lv, Jing-Tao Dou, Yi-Ming Mu, Ju-Ming Lu
Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for <1% of all endogenous cases of CS. In order toidentify the pathogenic mutations in the causative gene of (AIMAH pedigrees, Whole-genome sequencing of three patients in family I was used to retrieve candidate causative genes...
March 28, 2018: Endocrine Journal
Andrew R Tang, Doreen M Rabi, Kim L Lavoie, Simon L Bacon, Louise Pilote, Gregory A Kline
Background Glucocorticoid excess has been linked with cardiovascular disease. Little is known about the long-term cortisol response in patients after acute coronary syndrome. Design The objective of this study was to describe the distribution of salivary cortisol in the post-acute phase of acute coronary syndrome and to describe the association of late-night salivary cortisol with cardiovascular risk factors. Methods We used late-night salivary cortisol measurements post-discharge to estimate hypothalamic-pituitary-adrenal axis activity in 309 patients aged 18-55 years enrolled in the GENESIS-PRAXY study from January 2009-April 2013...
January 2018: European Journal of Preventive Cardiology
Daniel Bengtsson, Patrick Joost, Christos Aravidis, Marie Askmalm Stenmark, Ann-Sofie Backman, Beatrice Melin, Jenny von Salomé, Theofanis Zagoras, Samuel Gebre-Medhin, Pia Burman
Context: Lynch syndrome (LS) is a cancer-predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported. Case: A 51-year-old man with LS (MSH2 mutation) and a history of colon carcinoma presented with severe Cushing disease and a locally aggressive pituitary tumor. The tumor harbored a mutation consistent with the patient's germline mutation and displayed defect MMR function...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
B S Yurekli, B Karaca, A Kisim, E Bozkurt, H Atmaca, S Cetinkalp, G Ozgen, C Yilmaz, S Uzunoglu, R Uslu, F Saygili
PURPOSE: Gossypol, a naturally occurring compound in cottonseeds, has anticancer effects against several tumor cell lines. It has been extensively studied in clinical trials and is well tolerated with a favorable safety profile. AT-101, a derivative of R (-)-gossypol, binds to Bcl-2 family proteins and induces apoptosis in vitro. Although transsphenoidal surgical excision of the pituitary corticotroph adenoma is the gold standard of care, it is not successful all the time. Medical therapy for Cushing's disease still remains a challenge for the clinicians...
February 2018: Journal of Endocrinological Investigation
N V Marques, L Kasuki, M C Coelho, C H A Lima, L E Wildemberg, M R Gadelha
INTRODUCTION: Pituitary adenomas (PA) occur mainly as sporadic disease, but familial syndromes are found in approximately 5% of cases. Identification of these syndromes is important in order to diagnose individuals at risk at an earlier stage. AIMS: To evaluate the frequency of familial PA in a reference outpatient clinic devoted to PA treatment and to identify family members suspected to have pituitary disease. METHODS: Patients with PA were interviewed with respect to the presence of family members with diagnosis of PA or with signs or symptoms suggestive of them...
December 2017: Journal of Endocrinological Investigation
Teresa Rego, Fernando Fonseca, Stéphanie Espiard, Karine Perlemoine, Jérôme Bertherat, Ana Agapito
SUMMARY: PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. A 70-year-old female patient was admitted due to left femoral neck fracture in May 2014, in Orthopedics Department. During hospitalization, hypertension (HTA) and hypokalemia were diagnosed. She presented with clinical signs of hypercortisolism and was transferred to the Endocrinology ward for suspected CS...
2017: Endocrinology, Diabetes & Metabolism Case Reports
Selma Tunç, Korcan Demir, Fatma Ajlan Tükün, Cihan Topal, Filiz Hazan, Burcu Sağlam, Özlem Nalbantoğlu, Melek Yıldız, Behzat Özkan
OBJECTIVE: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity. Data regarding MC4R mutations in Turkish subjects are limited. To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents. METHODS: MC4R was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1-18 years) who presented during a one-year period. Inclusion criterion was a body mass index (BMI) ≥120% of the 95th percentile or ≥35 kg/m2...
September 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
Constantine A Stratakis
Carney complex is a familial lentiginosis syndrome; these disorders cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous spots not associated with systemic disease to associations with several syndromes. Carney complex is caused by PRKAR1A mutations and perturbations of the cyclic AMP-dependent protein kinase (PKA) signaling pathway. In addition to the cutaneous findings, the main tumors associated with Carney complex are endocrine: 1) primary pigmented nodular adrenocortical disease, a bilateral adrenal hyperplasia leading to Cushing syndrome; 2) growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia leading to acromegaly; 3) thyroid and gonadal tumors, including a predisposition to thyroid cancer...
September 2016: Reviews in Endocrine & Metabolic Disorders
Qi Xiong, Wei Ge
Cushing's disease (CD) is a severe (and potentially fatal) disease caused by adrenocorticotropic hormone (ACTH)-secreting adenomas of the pituitary gland (often termed pituitary adenomas). The majority of ACTH-secreting corticotroph tumors are sporadic and CD rarely appears as a familial disorder, thus, the genetic mechanisms underlying CD are poorly understood. Studies have reported that various mutated genes are associated with CD, such as those in menin 1, aryl hydrocarbon receptor-interacting protein and the nuclear receptor subfamily 3 group C member 1...
September 2016: Biomedical Reports
Ryohei Mineo, Sachiko Tamba, Yuya Yamada, Tomonori Okita, Yusuke Kawachi, Reiko Mori, Mitsuaki Kyo, Kenji Saisho, Yohei Kuroda, Koji Yamamoto, Akiko Furuya, Tokuo Mukai, Takashi Maekawa, Yasuhiro Nakamura, Hironobu Sasano, Yuji Matsuzawa
A 40-year-old man presented with Cushing's syndrome due to bilateral adrenal hyperplasia with multiple nodules. Computed tomography scan results were atypical demonstrating an enlargement of the bilateral adrenal glands harboring multiple small nodules, but the lesion was clinically diagnosed to be primary pigmented nodular adrenocortical disease (PPNAD) based on both endocrinological test results and his family history. We performed bilateral adrenalectomy and confirmed the diagnosis histologically. An analysis of the patient and his mother's genomic DNA identified a novel mutation in the type Iα regulatory subunit of protein kinase A (PRKAR1A) gene; p...
2016: Internal Medicine
Felicia Leccia, Marie Batisse-Lignier, Isabelle Sahut-Barnola, Pierre Val, A-Marie Lefrançois-Martinez, Antoine Martinez
Adrenal cortex tumors are divided into benign forms, such as primary hyperplasias and adrenocortical adenomas (ACAs), and malignant forms or adrenocortical carcinomas (ACCs). Primary hyperplasias are rare causes of adrenocorticotropin hormone-independent hypercortisolism. ACAs are the most common type of adrenal gland tumors and they are rarely "functional," i.e., producing steroids. When functional, adenomas result in endocrine disorders, such as Cushing's syndrome (hypercortisolism) or Conn's syndrome (hyperaldosteronism)...
2016: Frontiers in Endocrinology
Anli Tong, Guanghua Liu, Fen Wang, Jun Jiang, Zhaoli Yan, Dianxi Zhang, Yinsheng Zhang, Jun Cai
CONTEXT: To date, all the familial hyperaldosteronism type III (FH-III) patients reported presenting with typical primary aldosteronism (PA), without showing other adrenal hormone abnormalities. OBJECTIVE: This study characterized a novel phenotype of FH-III and explored the possible pathogenesis. PATIENTS AND METHODS: A male patient presented with severe hypertension and hypokalemia at the age of 2 years and developed Cushing's syndrome at 20 years...
November 2016: Journal of Clinical Endocrinology and Metabolism
Holly Emms, Ioanna Tsirou, Treena Cranston, Stylianos Tsagarakis, Ashley B Grossman
Bilateral adrenal macronodular hyperplasia (BMAH) is a rare form of Cushing's syndrome characterised by the presence of bilateral secretory adrenal nodules and hypercortisolism. Familial studies support a genetic basis for BMAH, and the disease has been linked to mutations in ARMC5, a gene shown to have a tumour suppressor-like action in the development of adrenal nodules. This study aimed to investigate whether ARMC5 mutations play a role in the development of incidentally discovered bilateral adrenal nodules...
September 2016: Endocrine
P P Chrysostomou, M B Lodish, E B Turkbey, G Z Papadakis, C A Stratakis
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare type of bilateral adrenal hyperplasia leading to hypercortisolemia. Adrenal nodularity is often appreciable with computed tomography (CT); however, accurate radiologic characterization of adrenal size in PPNAD has not been studied well. We used 3-dimensional (3D) volumetric analysis to characterize and compare adrenal size in PPNAD patients, with and without Cushing's syndrome (CS). Patients diagnosed with PPNAD and their family members with known mutations in PRKAR1A were screened...
April 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Natsumi Kitajima, Toshiro Seki, Atsushi Yasuda, Masayuki Oki, Atsushi Takagi, Kazuya Hanai, Toshiro Terachi, Masafumi Fukagawa
We report a rare case of subclinical primary aldosteronism (PA) and subclinical Cushing's syndrome (CS). A 49-year-old woman was referred to our hospital for the evaluation of an adrenal incidentaloma. The patient had no previous medical history and no family history of notable illness. Her blood pressure was 103/60 mmHg. She had no Cushingoid features. Routine laboratory examinations were within the normal ranges including normokalemia. Based on the endocrinological results and imaging findings, we finally made a diagnosis of subclinical PA caused by both adrenal glands and subclinical CS caused by bilateral adrenal tumors...
March 20, 2016: Tokai Journal of Experimental and Clinical Medicine
Christopher C Cushing, Bruno Martinez-Leo, Andrea Bischoff, Jennifer Hall, Michael Helmrath, Belinda H Dickie, Marc A Levitt, Alberto Peña, Meg H Zeller, Jason S Frischer
OBJECTIVE: The aim of the present study was to describe the quality of life and parenting stress associated with a child with fecal incontinence (FI). METHODS: Female caregivers (n = 170) of children of 3 to 12 years age with FI completed a broad and general measure of quality of life and a measure of parenting stress. Results were compared with proxy reports for a normative sample of healthy children. RESULTS: Caregivers of children with FI reported significantly impaired quality of life for their children and increased parenting stress in all of the respective domains relative to healthy controls...
December 2016: Journal of Pediatric Gastroenterology and Nutrition
Lee Ling Lim, Normayah Kitan, Sharmila Sunita Paramasivam, Jeyakantha Ratnasingam, Luqman Ibrahim, Siew Pheng Chan, Alexander Tong Boon Tan, Shireene Ratna Vethakkan
INTRODUCTION: Determining the etiology of Cushing's syndrome is very challenging to endocrinologists, with most of the difficulty arising from subtype differentiation of adrenocorticotropic hormone-dependent Cushing's syndrome. We present the pitfalls of evaluating a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome in the transition period between adolescence and adulthood. CASE PRESENTATION: A sibling pair with familial isolated primary pigmented nodular adrenocortical disease is described...
2015: Journal of Medical Case Reports
Ludivine Drougat, Stéphanie Espiard, Jerôme Bertherat
Long-term consequences of cortisol excess are frequent despite appropriate treatment after cure of Cushing's syndrome. This might be due to diagnostic delay, often difficult to reduce in rare diseases. The identification of a genetic predisposing factor might help to improve early diagnosis by familial screening. Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing's syndrome. Hypercortisolism in PBMAH is most often diagnosed between the fifth and sixth decades of life. The bilateral nature of the adrenocortical tumors and the occurrence of rare clear familial forms suggest a genetic origin...
October 2015: European Journal of Endocrinology
Sawako Suzuki, Ichiro Tatsuno, Emi Oohara, Akitoshi Nakayama, Eri Komai, Akina Shiga, Takashi Kono, Tomoko Takiguchi, Seiichiro Higuchi, Ikki Sakuma, Hidekazu Nagano, Naoko Hashimoto, Takafumi Mayama, Hisashi Koide, Hironobu Sasano, Yukio Nakatani, Takashi Imamoto, Tomohiko Ichikawa, Koutaro Yokote, Tomoaki Tanaka
OBJECTIVE: Primary macronodular adrenal hyperplasia (PMAH) is considered a predominantly sporadic disease, but familial forms are well recognized. Genetic studies revealed germline mutations in the armadillo repeat containing 5 gene (ARMC5) in the majority of PMAH cases. Furthermore, somatic ARMC5 mutations, as different types of second-hit mutations and loss of heterozygosity have been reported in each adrenal nodule in PMAH. Here, we describe the involvement of ARMC5 alteration in a familial case of PMAH...
October 2015: Endocrine Practice
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