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1.
J Pediatr Endocrinol Metab ; 32(6): 615-622, 2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31141483

RESUMO

Background Primary adrenal insufficiency (PAI) in children is a rare condition and potentially lethal. The clinical characteristics are non-specific. It may be manifested as a chronic condition or crisis. The etiologies of PAI in children are different from the adult population. Therefore, diagnostic investigation becomes challenging. Methods A retrospective study was conducted at The First Affiliated Sun Yat Sen University Pediatric Endocrine unit between September 1989 and July 2016. Results A total of 434 patients (237 males, 197 females) were identified as having PAI. Congenital adrenal hyperplasia (CAH) was the most frequent etiology (83.4%, n = 362, male:female = 174:188), of which 351 (97.2%) were 21-hydroxylase deficiency (21-OH) CAH. Non-CAH etiology accounted for 11.3% (n = 49, male:female = 47:2), of which 46 (93.9%) were of non-autoimmune. The etiologies of the 49 cases were adrenoleukodystrophy (ALD; n = 22), X-linked adrenal hypoplasia congenital (X-AHC; n = 20), autoimmune polyglandular syndrome (APS; n = 3), triple A syndrome (n = 2), steroidogenic factor 1 (SF-1) gene mutation (n = 1) and adrenalectomy (n = 1). The etiology was not identified for 23 patients (5.3%, male:female =16:7). Clinical symptoms were in accordance with the incidence of genital ambiguity (42.6%), digestive symptoms (vomiting and diarrhea) (35.5%), failure to thrive (26.5%), gonadal-associated symptom (premature puberty, sexual infantilism and amenorrhea) (21.2%), hyperpigmentation (9.7%), adrenal crisis (AC; 4.1%), neurological symptoms (3.2%), fatigue (2.5%) and prolonged jaundice (2.1%). Through physical examination, 58.5% were found to have hyperpigmentation. Conclusions This study spanned 29 years at our institution. The etiology of PAI in children was mostly of congenital forms, which exhibits a wide spectrum of clinical characteristics. For etiological diagnosis, chromosomal karyotyping is recommended for female phenotype patients.


Assuntos
Doença de Addison/etiologia , Hiperplasia Suprarrenal Congênita/etiologia , Insuficiência Adrenal/complicações , Doença de Addison/patologia , Adolescente , Hiperplasia Suprarrenal Congênita/patologia , Criança , Pré-Escolar , Comorbidade , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Estudos Retrospectivos
2.
Vnitr Lek ; 65(4): 300-302, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31091951

RESUMO

Recurrent, unexplained, eventually severe hypoglycemias in patients with type 1 diabetes mellitus (T1DM) may be rarely but yet associated with the onset of adrenal insufficiency (AI), present in approximately 0.5 % of patients with T1DM, appearing usually several years after diabetes diagnosis, usually in middle age and more frequently in women. Screening for AI in patients who complained of recurrent hypoglycemias, difficult to explain by common causes, was ineffective and therefore it is not recommended. Nevertheless, the possibility of manifestation of AI in connection with above mentioned cases in patients with T1DM should be taken into consideration and usual symptoms of AI such as weakness, lack of appetite, weight loss, orthostatic hypotension, hyperpigmentation or ions disorders should be examined.


Assuntos
Insuficiência Adrenal , Diabetes Mellitus Tipo 1 , Hipoglicemia , Insuficiência Adrenal/complicações , Insuficiência Adrenal/diagnóstico , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/tratamento farmacológico , Feminino , Humanos , Hipoglicemia/etiologia , Pessoa de Meia-Idade
3.
Eur J Endocrinol ; 180(5): D9-D18, 2019 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-30970325

RESUMO

Treatment of Cushing's disease (CD) is one of the most challenging tasks in endocrinology. The first-line treatment, transsphenoidal pituitary surgery, is associated with a high failure rate and a high prevalence of recurrence. Re-operation is associated with an even higher rate of a failure and recurrence. There are three main second-line treatments for CD - pituitary radiation therapy (RT), bilateral adrenalectomy and chronic cortisol-lowering medical treatment. All these treatments have their limitations. While bilateral adrenalectomy provides permanent cure of the hypercortisolism in all patients, the unavoidable chronic adrenal insufficiency and the risk of development of Nelson syndrome are of concern. Chronic cortisol-lowering medical treatment is not efficient in all patients and side effects are often a limiting factor. RT is efficient for approximately two-thirds of all patients with CD. However, the high prevalence of pituitary insufficiency is of concern as well as potential optic nerve damage, development of cerebrovascular disease and secondary brain tumours. Thus, when it comes to decide appropriate treatment for patients with CD, who have either failed to achieve remission with pituitary surgery, or patients with recurrence, the pros and cons of all second-line treatment options must be considered.


Assuntos
Hipersecreção Hipofisária de ACTH/radioterapia , Hipersecreção Hipofisária de ACTH/cirurgia , Insuficiência Adrenal/complicações , Insuficiência Adrenal/tratamento farmacológico , Adrenalectomia/efeitos adversos , Humanos , Hidrocortisona/antagonistas & inibidores , Síndrome de Nelson/etiologia , Hipófise/efeitos da radiação , Hipófise/cirurgia , Radioterapia/efeitos adversos , Recidiva , Indução de Remissão , Falha de Tratamento
5.
BMJ Case Rep ; 12(3)2019 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-30898957

RESUMO

Rhabdomyolysis is a serious and life-threatening condition which has many established causes including endocrine disturbances. Of those, thyroid, adrenal and pituitary deficiencies are the most commonly seen. Most cases of rhabdomyolysis with adrenal insufficiency that have been reported have been primary. Here, we report an encounter with a patient who presented with her second case of severe rhabdomyolysis in the setting of secondary adrenal insufficiency. The cause for corticotropic suppression was most likely autoimmune hypophysitis given the presence of other autoimmune comorbidities including a new diagnosis of autoimmune hepatitis. In addition to her case, we present a brief review of the literature pertaining to cases of rhabdomyolysis attributed to adrenal insufficiency.


Assuntos
Insuficiência Adrenal/complicações , Hepatite Autoimune/complicações , Rabdomiólise/complicações , Creatina Quinase/sangue , Diagnóstico Diferencial , Feminino , Humanos , Hidrocortisona/sangue , Pessoa de Meia-Idade , Rabdomiólise/sangue
6.
Medicine (Baltimore) ; 98(13): e15033, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30921227

RESUMO

RATIONALE: Cases of adrenocortical hyperfunction combined with primary aldosteronism have been reported in the literature, and the underlying mechanism involves the secretion of aldosterone and glucocorticoids by a tumor or an adenoma. However, adrenocortical hypofunction and coexisting primary aldosteronism have not been reported until now. Herein, we report a case of adrenocortical hypofunction combined with primary aldosteronism. PATIENT CONCERNS: A 66-year-old Chinese woman with rheumatoid arthritis who had been diagnosed with secondary adrenal insufficiency and was taking prednisone acetate tablets for replacement treatment presented to our department. She also had type 2 diabetes mellitus, osteoporosis, bilateral knee osteoarthritis, and lumbar vertebral compression fracture. She had previously developed tuberculosis, which had been cured. DIAGNOSIS: The cortisol and adrenocorticotropic hormone rhythm indicated cortisol dysfunction in the patient. A 64-slice computed tomography and magnetic resonance imaging both showed bilateral adrenal hyperplasia. A postural stimulation test indicated a high level of aldosteronism and a high aldosterone-to-renin ratio (ARR, supine position: aldosterone 1788.73 pg/mL, ARR 146.62; upright position: aldosterone 2916.21 pg/mL, ARR 92.29). The captopril test showed the aldosterone level decreased by 364.70 pg/mL 1 hour after administration of captopril (from 2153.28 to 1788.58 pg/mL). The decline in aldosterone level was approximately 16.90% (i.e., <30%), and the ARR was still >40. Based on the above-mentioned findings, we diagnosed the patient with adrenocortical hypofunction with primary aldosteronism. INTERVENTIONS: We administered spironolactone 20 mg twice daily and continued the glucocorticoid replacement therapy. OUTCOMES: One week after diagnosis, the patient had an aldosterone level of 2201.16 pg/mL, plasma renin activity of 3.88 ng/mL/h, and an ARR of 56.7 (upright position). Her blood pressure was maintained within the normal range. LESSONS: Although adrenocortical hypofunction with primary aldosteronism is rare, cases of primary aldosteronism complicated with hypercortisolism are occasionally encountered. Hence, whenever possible, we recommend testing both aldosterone and cortisol levels in all patients with adrenal dysfunction.


Assuntos
Insuficiência Adrenal/complicações , Síndrome de Cushing/complicações , Hiperaldosteronismo/complicações , Insuficiência Adrenal/metabolismo , Idoso , Aldosterona/análise , Síndrome de Cushing/metabolismo , Feminino , Humanos , Hidrocortisona/análise , Hiperaldosteronismo/tratamento farmacológico , Hiperaldosteronismo/metabolismo , Antagonistas de Receptores de Mineralocorticoides/administração & dosagem , Espironolactona/administração & dosagem
7.
BMJ Case Rep ; 12(3)2019 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-30850565

RESUMO

We describe the clinical course of a 64-year-old woman with stage IVa lung adenocarcinoma who presented with over 1 month of fatigue, unintentional weight loss and emesis. She initiated treatment with nivolumab immunotherapy 1 year prior and had been tolerating the treatment well. A comprehensive workup revealed multiple endocrinological abnormalities consistent with hypophysitis leading to hypopituitarism in the form of central adrenal insufficiency and hypogonadism as well as a partially empty sella on imaging. This case demonstrates that while receiving novel forms of treatment such as immunotherapy, patients should be monitored closely for a wide range of adverse effects.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/complicações , Hipofisite/induzido quimicamente , Nivolumabe/efeitos adversos , Adenocarcinoma de Pulmão/patologia , Insuficiência Adrenal/complicações , Anti-Inflamatórios/uso terapêutico , Antineoplásicos Imunológicos/efeitos adversos , Antineoplásicos Imunológicos/uso terapêutico , Síndrome da Sela Vazia/diagnóstico por imagem , Síndrome da Sela Vazia/etiologia , Feminino , Humanos , Hidrocortisona/administração & dosagem , Hidrocortisona/uso terapêutico , Hipofisite/complicações , Hipopituitarismo/tratamento farmacológico , Hipopituitarismo/etiologia , Neoplasias Pulmonares/patologia , Pessoa de Meia-Idade , Nivolumabe/uso terapêutico , Resultado do Tratamento
8.
BMJ Case Rep ; 12(1)2019 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-30635301

RESUMO

A 51-year-old woman with known primary antiphospholipid syndrome presented with a 4-day history of chest and abdominal pain, inferior ST-segment elevation on a 12-lead ECG and a subtherapeutic international normalised ratio. In view of a significantly raised high-sensitivity troponin I assay, inferior wall hypokinesis on transthoracic echocardiography and despite unobstructed epicardial vessels on emergency coronary angiography, a diagnosis of myocardial infarction was made. Furthermore, the patient also developed both bilateral adrenal haemorrhages leading to acute adrenal insufficiency and microvascular thrombotic renal disease concurrently. The patient therefore fulfilled the diagnostic criteria for catastrophic antiphospholipid syndrome presenting with cardiac, endocrine and renal involvement. Early diagnosis permitted appropriate treatment with anticoagulation, dual antiplatelet therapy, secondary prevention and corticosteroid replacement therapy and led to a full recovery. This case highlights first the importance of adequate anticoagulation in antiphospholipid syndrome and, second, the potentially fatal, multiorgan complication of failure to do so.


Assuntos
Síndrome Antifosfolipídica/complicações , Vasos Coronários/diagnóstico por imagem , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio com Supradesnível do Segmento ST/fisiopatologia , Corticosteroides/administração & dosagem , Corticosteroides/uso terapêutico , Insuficiência Adrenal/complicações , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/tratamento farmacológico , Dor no Peito/diagnóstico , Dor no Peito/etiologia , Angiografia Coronária/métodos , Vasos Coronários/anatomia & histologia , Diagnóstico Precoce , Ecocardiografia/métodos , Eletrocardiografia , Feminino , Humanos , Nefropatias/patologia , Pessoa de Meia-Idade , Infarto do Miocárdio/diagnóstico por imagem , Infarto do Miocárdio/patologia , Inibidores da Agregação de Plaquetas/administração & dosagem , Inibidores da Agregação de Plaquetas/uso terapêutico , Trombose , Resultado do Tratamento , Troponina I/metabolismo
9.
Neuroendocrinology ; 108(3): 211-218, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30636245

RESUMO

BACKGROUND: Cushing disease (CD) represents the principal cause of endogenous hypercortisolism. The first-line therapy of CD is surgical removal of the ACTH-secreting pituitary adenoma, which is generally followed by adrenal insufficiency (AI). OBJECTIVE: To analyze the recovery of AI in patients with CD after pituitary surgery in relation with recurrence and persistent remission of CD. PATIENTS AND METHODS: We performed a retrospective analysis of patients with CD who met the following inclusion criteria: adult age, presence of AI 2 months after the surgical intervention, and a minimum follow-up of 3 years after the surgical intervention. RESULTS: Sixty-one patients were followed for a median of 6 years. Ten (16.4%) patients recurred during follow-up. The patients who restored adrenal function did so after a median time of 19 months, with a significantly shorter time in the recurrence group (12.5 vs. 25 months, p = 0.008). All 10 patients who recurred recovered their adrenal function within 22 months. The recovery rate of AI in the persistent remission group was 37.3% (19/51) at 3 years and 55.8% (24/43) at 5 years. In all patients the duration of AI was negatively associated with disease recurrence. CONCLUSION: The duration of postsurgical AI in patients with recurrent CD is significantly shorter than that in patients with persistently remitted CD, and this parameter may be a useful predictor of recurrence. Patients showing a normal pituitary-adrenal axis within 2 years after surgery should be strictly monitored as they are at higher risk of disease relapse.


Assuntos
Glândulas Suprarrenais/fisiologia , Hipersecreção Hipofisária de ACTH/fisiopatologia , Recuperação de Função Fisiológica/fisiologia , Testes de Função do Córtex Suprarrenal , Insuficiência Adrenal/complicações , Insuficiência Adrenal/fisiopatologia , Adulto , Feminino , Humanos , Masculino , Hipersecreção Hipofisária de ACTH/complicações , Hipersecreção Hipofisária de ACTH/patologia , Hipersecreção Hipofisária de ACTH/cirurgia , Recidiva , Indução de Remissão , Estudos Retrospectivos , Fatores de Tempo
10.
Hormones (Athens) ; 18(1): 109-112, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30612286

RESUMO

OBJECTIVE: Triple A syndrome is a rare autosomal recessive disorder caused by mutations in the AAAS gene on chromosome 12q13. Its main clinical features are alacrima, achalasia, and adrenal insufficiency, with most patients also having neurological symptoms and autonomic dysfunction. The neurologic manifestations are less well-understood, especially in children. Here, we examine two siblings who were found to have a novel mutation in the AAAS gene and who were found to have subtle, but important, neurologic findings. DESIGN: This is a case report of two siblings. RESULTS: We discuss two siblings exhibiting different signs of the disorder including neurologic dysfunction found at varying ages. Genetic analysis revealed that both patients have the same compound heterozygous mutations in the AAAS gene consisting of one novel mutation (c.500 C>A, A167E) and one previously described mutation (c.1331+1G> A/IVS14+1 G>A). A diagnosis of triple A syndrome was reached based on their clinical and genetic findings. CONCLUSIONS: The unique characteristic of these two cases is the novel mutation in the AAAS gene, which is likely pathogenic. In addition, they showcase the genotype-phenotype variability of the disease, as well as the importance of early identification of the neurologic abnormalities, which can result in early intervention and possibly improved outcomes.


Assuntos
Insuficiência Adrenal/genética , Acalasia Esofágica/genética , Proteínas do Tecido Nervoso/genética , Doenças do Sistema Nervoso/genética , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Insuficiência Adrenal/complicações , Criança , Pré-Escolar , Acalasia Esofágica/complicações , Feminino , Humanos , Masculino , Doenças do Sistema Nervoso/etiologia , Irmãos
11.
A A Pract ; 12(3): 63-65, 2019 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-30020102

RESUMO

Acute adrenal insufficiency is a rare but potentially life-threatening event during the perioperative period. The usual manifestations of an acute adrenal crisis can mimic common postoperative complications and a high index of suspicion is required for the diagnosis. Early diagnosis and prompt treatment can be lifesaving. We present the case of a 65-year-old man who, after a partial nephrectomy, developed acute adrenal insufficiency, which remained undiagnosed in the postoperative period, eventually leading to cardiac arrest. This case highlights the need for perioperative physicians to have a watchful eye for diagnosing and treating this uncommon yet lethal condition.


Assuntos
Insuficiência Adrenal/etiologia , Parada Cardíaca/etiologia , Nefrectomia/efeitos adversos , Insuficiência Adrenal/complicações , Idoso , Diagnóstico Precoce , Fludrocortisona/uso terapêutico , Parada Cardíaca/tratamento farmacológico , Humanos , Hidrocortisona/uso terapêutico , Masculino , Resultado do Tratamento
12.
PLoS One ; 13(11): e0206184, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30403727

RESUMO

BACKGROUND: MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency (AI). It is poorly understood whether SAMD9 variants underlie 46,XY DSD patients born SGA (46,XY DSD SGA) without AI. This study aimed to define the frequency and phenotype of SAMD9 variants in 46,XY DSD SGA without AI. METHODS: Forty-nine Japanese patients with 46,XY DSD SGA (Quigley scale, 2 to 6; gestational age-matched birth weight percentile, <10) without history of AI were enrolled. The single coding exon of SAMD9 was PCR-amplified and sequenced for each patient. Pathogenicity of an identified variant was verified in vitro. Placenta tissues were obtained from the variant-carrying patient, as well as from another previously described patient, and were analyzed histologically. RESULTS: In one 46,XY DSD SGA patient, a novel heterozygous SAMD9 variant, p.Phe1017Val, was identified. Pathogenicity of the mutant was experimentally confirmed. In addition to DSD and SGA, the patient had neonatal thrombocytopenia, severe postnatal grow restriction, chronic diarrhea and susceptibility to infection, all features consistent with MIRAGE, leading to premature death at age 14 months. The patient did not have any manifestations or laboratory findings suggesting AI. Placenta tissues of the two variant-carrying patients were characterized by maldevelopment of distal villi without other findings of maternal underperfusion. CONCLUSIONS: MIRAGE syndrome is a rare cause of 46,XY DSD SGA without AI. This study exemplifies that AI is a common feature of MIRAGE syndrome but that the absence of AI should not rule out a diagnosis of the syndrome.


Assuntos
Insuficiência Adrenal/complicações , Transtorno 46,XY do Desenvolvimento Sexual/etiologia , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Insuficiência Adrenal/genética , Sequência de Aminoácidos , Transtorno 46,XY do Desenvolvimento Sexual/genética , Evolução Fatal , Feminino , Células HEK293 , Humanos , Lactente , Recém-Nascido , Peptídeos e Proteínas de Sinalização Intracelular , Mutação/genética , Proteínas/química , Proteínas/genética , Índice de Gravidade de Doença , Síndrome
13.
J Med Case Rep ; 12(1): 345, 2018 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-30458836

RESUMO

BACKGROUND: Cardiovascular manifestations associated with Addison's disease are previously documented. We described a case of an 11-year-old girl who developed dilated cardiomyopathy as a complication to Addison's disease. Glucocorticoid replacement therapy resulted in near-complete recovery of cardiac function. It is the first reported case of reversible cardiomyopathy as a complication of primary adrenal insufficiency in Syria. CASE PRESENTATION: An 11-year-old Caucasian girl with no significant past medical history presented with abdominal pain, vomiting after meals, and a low-grade fever. A physical examination and laboratory evaluation suggested primary adrenal insufficiency. An echocardiogram showed changes consistent with dilated cardiomyopathy. Causes of primary adrenal insufficiency other than autoimmune were excluded. CONCLUSIONS: Dilated cardiomyopathy is a rare complication of primary adrenal insufficiency. Proper treatment of adrenal insufficiency with glucocorticoid replacement therapy resulted in restoration of normal cardiac function.


Assuntos
Abdome Agudo/etiologia , Insuficiência Adrenal/complicações , Cardiomiopatia Dilatada/diagnóstico , Glucocorticoides/uso terapêutico , Hidrocortisona/uso terapêutico , Insuficiência Adrenal/tratamento farmacológico , Insuficiência Adrenal/fisiopatologia , Cardiomiopatia Dilatada/tratamento farmacológico , Cardiomiopatia Dilatada/fisiopatologia , Criança , Ecocardiografia , Feminino , Humanos , Resultado do Tratamento , Vômito
14.
Asia Pac J Clin Nutr ; 27(6): 1175-1181, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30485914

RESUMO

BACKGROUND AND OBJECTIVES: This study aimed to evaluate malnutrition prevalence and usefulness of the body mass index (BMI) in the assessment of malnutrition in hospitalized elderly patients with adrenal insufficiency (AI). METHODS AND STUDY DESIGN: 318 hospitalized AI patients were diagnosed by a rapid ACTH stimulation test with a history of steroid treatment and compared with 374 control patients. Nutrition was assessed using the Malnutrition Universal Screening Tool (MUST). Nutritional status was evaluated using the Mini Nutritional Assessment short form (MNA-SF) and BMI. RESULTS: There was no difference in nutritional screening between the AI and control groups. Nutritional assessments indicated that 31.2% of all elderly patients suffered from malnutrition and 33.8% of patients were at risk of malnutrition. Less than half of the patients (34.9%) were identified as well nourished. In this study, 33.6% vs 29.1% of patients were malnourished in the AI and control group, respectively. Overall, prevalence of malnutrition was higher in the AI group than the control group. In the AI group, patients with low basal cortisol had a higher incidence of malnutrition than those with high basal cortisol. The BMI of patients in the AI group was higher than in the control group. According to BMI criteria, 64.3% of malnourished patients were overweight or obese in the AI group. CONCLUSIONS: Elderly AI patients are prone to develop malnutrition despite being overweight or obese. Therefore, more extensive nutritional assessment of elderly patients with AI is required regardless of BMI.


Assuntos
Insuficiência Adrenal/complicações , Índice de Massa Corporal , Hospitalização , Desnutrição/diagnóstico , Desnutrição/epidemiologia , Insuficiência Adrenal/diagnóstico , Hormônio Adrenocorticotrópico/farmacologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Hidrocortisona/sangue , Masculino , Avaliação Nutricional , Estado Nutricional
15.
Crit Care Nurs Clin North Am ; 30(3): e1-e9, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30286947

RESUMO

Sepsis is a life-threatening response to infection often times requiring endotracheal intubation in critically ill patients. Etomidate is routinely used as an intravenous induction agent to provide sedation and amnesia before placing an endotracheal tube. Although etomidate has many favorable qualities, there is a major concern regarding the predictable adrenal insufficiency that follows its use. Controversy continues to this day as to whether etomidate should be avoided in the setting of sepsis or septic shock.


Assuntos
Anestésicos Intravenosos/efeitos adversos , Etomidato/efeitos adversos , Sepse/terapia , Insuficiência Adrenal/complicações , Anestésicos Intravenosos/administração & dosagem , Estado Terminal , Etomidato/administração & dosagem , Humanos , Sepse/mortalidade
16.
Tunis Med ; 96(3): 227-229, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30325493

RESUMO

The association between achalasia and no tuberculosis mycobacterial   lung infection is well described in the literature. MycobactériumFortuitum is often responsible, and the clinical's presentation   is an aspiration pneumonia resistant to usual antibiotic therapy. We report the case of a 15 year-old patient with the history of Allgrove syndrome. The chest imaging showed right lung congestion; the diagnosis was bacteriological and MycobactériumFortuitum resistant to rifampicin, isoniazid, pyrazinamide and ethambutol was isolated. The patient was treated by the association cotrimoxazole, ciprofloxacin and clarithromycin for 12 months and the clinical, radiological and bacteriological outcomes were favorable. To prevent the recurrence the patient benefited from a cardiomyotomy.


Assuntos
Insuficiência Adrenal/complicações , Acalasia Esofágica/complicações , Infecções por Micobactéria não Tuberculosa/complicações , Mycobacterium fortuitum/isolamento & purificação , Tuberculose Pulmonar/complicações , Adolescente , Insuficiência Adrenal/microbiologia , Insuficiência Adrenal/patologia , Acalasia Esofágica/microbiologia , Acalasia Esofágica/patologia , Feminino , Humanos , Infecções por Micobactéria não Tuberculosa/diagnóstico , Infecções por Micobactéria não Tuberculosa/microbiologia , Pneumonia Aspirativa/complicações , Pneumonia Aspirativa/diagnóstico , Pneumonia Aspirativa/microbiologia , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/microbiologia
17.
Horm Res Paediatr ; 90(3): 203-211, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30179867

RESUMO

BACKGROUND: The development of gonadotropin-independent (peripheral) precocious puberty in male children with primary adrenal insufficiency (PAI) is consistent with a defect in the genes encoding for the enzymes involved in steroid hormone biosynthesis. METHODS: Two young boys presented with peripheral precocious puberty followed by PAI. In both patients, the analysis of CYP21A2 gene encoding 21-hydroxylase was normal. As a second step, a targeted next-generation sequencing (NGS) was performed in both patients using a customized panel of congenital endocrine disor ders. RESULTS: Case 1 had a new homozygous variant in the CYP11B1 gene (c.1121+5G>A). Mutations of this gene cause congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency, an essential enzyme in the cortisol biosynthesis pathway. Case 2 showed a new hemizygous mutation in the NR0B1 gene (c.1091T>G), which encodes for DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia congenita [AHC] and critical region on the X chromosome gene 1). NR0B1 mutations cause X-linked AHC and hypogonadotropic hypogonadism. Pathogenicity prediction software defined both mutations as probably damaging. CONCLUSIONS: Peripheral precocious puberty was the atypical presentation of 2 rare genetic diseases. The use of NGS made the characterization of these 2 cases with similar clinical phenotypes caused by 2 different genetic defects possible.


Assuntos
Insuficiência Adrenal/genética , Receptor Nuclear Órfão DAX-1/genética , Puberdade Precoce/genética , Esteroide 11-beta-Hidroxilase/genética , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/genética , Insuficiência Adrenal/complicações , Criança , Pré-Escolar , Análise Mutacional de DNA/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Fenótipo , Puberdade Precoce/complicações , Análise de Sequência de DNA
18.
Intern Med ; 57(23): 3399-3406, 2018 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-30101905

RESUMO

A 69-year-old Japanese man with a history of suprasellar surgery and irradiation developed bradykinesia and mild fatigue without muscle weakness, myalgia, pyramidal or extrapyramidal signs, parkinsonian symptoms, or ataxia. An endocrinological work-up revealed anterior hypopituitarism associated with secondary adrenal insufficiency. Higher brain function tests indicated an impaired frontal lobe function. The patient's bradykinesia, fatigue, and frontal lobe dysfunction improved within 2 weeks after the initiation of corticosteroid replacement therapy. To our knowledge, this is the first reported case of adrenal insufficiency manifesting as non-parkinsonian bradykinesia. Physicians should consider reversible non-parkinsonian bradykinesia associated with frontal lobe dysfunction as an unusual manifestation of adrenal insufficiency.


Assuntos
Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/fisiopatologia , Lobo Frontal/fisiopatologia , Hipocinesia/etiologia , Hipopituitarismo/diagnóstico , Hipopituitarismo/fisiopatologia , Insuficiência Adrenal/complicações , Insuficiência Adrenal/tratamento farmacológico , Idoso , Fadiga/etiologia , Humanos , Hipocinesia/tratamento farmacológico , Hipocinesia/fisiopatologia , Hipopituitarismo/complicações , Hipopituitarismo/tratamento farmacológico , Masculino
19.
Indian J Tuberc ; 65(3): 241-245, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29933867

RESUMO

BACKGROUND: Although subclinical adrenal insufficiency has been documented in tuberculosis but it has been neglected in mainstream management of TB due to inconclusive data on its prevalence in TB. The fact that adrenal insufficiency may result not only in poor general condition of the patient but also sudden death due to adrenal crisis, makes it all the more important to address this issue seriously. In this non-randomized interventional study comprising of 100 cases of TB, our aim was to assess the adreno-cortical functions in patients with pulmonary TB (50 cases) and extra-pulmonary TB (50 cases) in an attempt to determine if there is any compromise of adrenal function. METHODS: In this study, 100 cases of active TB were investigated for adrenal insufficiency by measuring morning fasting basal serum cortisol levels, followed by low dose ACTH stimulation test using 1µg synacthen (synthetic ACTH analog). The post-stimulation serum cortisol levels were estimated. Basal serum cortisol levels<220nmol/L or post-stimulation test serum cortisol level increment<200nmol/L or post-stimulation serum cortisol levels<500nmol/L were suggestive of adrenal insufficiency. RESULTS: Basal serum cortisol level was low in 16% cases and after low dose ACTH stimulation test, cortisol response was subnormal in 76% cases. Incidence of adrenal insufficiency in pulmonary TB (74%) and extra-pulmonary TB (78%) were comparable. The number of females having adrenal insufficiency in both the groups was higher than the males (67.3% males and 83.3% females) but the difference was statistically significant only in extra-pulmonary TB group (p=0.011). On analysing the data, the sensitivity of basal serum cortisol level estimation in diagnosing adrenal insufficiency was observed to be 21.05% and its specificity was 100%. Positive predictive value was 100% and negative predictive value was 28.57%. Diagnostic accuracy of basal serum cortisol level estimation was observed to be 40%. CONCLUSION: The incidence of subclinical adrenal insufficiency in TB cases attending chest department at a tertiary care hospital was significantly high but comparable in both pulmonary and extra-pulmonary type of TB. Females in general and particularly those with extra-pulmonary TB were observed to be at increased risk of adrenal insufficiency. The low dose ACTH stimulation test was able to identify cases with adrenal insufficiency which had normal basal serum cortisol levels. Screening all TB cases for adrenal insufficiency by measuring both morning basal serum cortisol levels and low dose ACTH stimulation test can help identify cases at risk of fatal adrenal crisis and institute timely management, thus improving disease prognosis.


Assuntos
Insuficiência Adrenal/fisiopatologia , Hidrocortisona/sangue , Tuberculose Pulmonar/fisiopatologia , Adolescente , Insuficiência Adrenal/sangue , Insuficiência Adrenal/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Incidência , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Tuberculose Pulmonar/complicações , Adulto Jovem
20.
Medicine (Baltimore) ; 97(26): e11046, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29952944

RESUMO

It is well known that adrenal insufficiency is common in septic shock or hemodynamically unstable patients. But, there is as yet no sufficient clinically significant data about the exact prevalence or differences in the cause of cirrhosis with adrenal insufficiency. To investigate adrenal insufficiency prevalence in hemodynamically stable patients with cirrhosis and determine differences based on cirrhosis severity or etiology.From July 2011 to December 2012, 69 hemodynamically stable patients with cirrhosis without infection admitted at Hallym University Medical Center were enrolled. Adrenal insufficiency was defined as a peak cortisol level < 18 µg/dL, 30 or 60 minutes after 250 µg Synacthen injection.The study included 55 male patients (79.7%), and the mean age was 57.9 ±â€Š12.9 years. Cirrhosis etiology was alcohol consumption, HBV, HCV, both viral and alcohol related, and cryptogenic in 49, 15, 7, 11, 9 patients, respectively. Adrenal insufficiency occurred in 24 patients (34.8%). No differences were found in age, sex, mean arterial pressure, heart rate, HDL, cirrhosis etiology, degree of alcohol consumption, encephalopathy, variceal bleeding history, or hepatocellular carcinoma between patients with or without adrenal insufficiency. Serum albumin level was lower (P < .05), and INR was higher (P < .05) in patients with than in those without adrenal insufficiency. However, multivariate analysis revealed no independent adrenal insufficiency predictor. Significant negative correlations were found between Child-Pugh score and peak cortisol levels (γ=-0.365, P = .008).Adrenal insufficiency was frequent even in hemodynamically stable patients with cirrhosis and tended to be associated with only liver disease severity, being unrelated to cirrhosis etiology.


Assuntos
Insuficiência Adrenal/complicações , Monitorização Hemodinâmica/tendências , Hidrocortisona/sangue , Cirrose Hepática/etiologia , Fígado/patologia , Insuficiência Adrenal/sangue , Insuficiência Adrenal/epidemiologia , Insuficiência Adrenal/patologia , Idoso , Consumo de Bebidas Alcoólicas/efeitos adversos , Cosintropina/administração & dosagem , Feminino , Hormônios/administração & dosagem , Humanos , Coeficiente Internacional Normatizado/métodos , Coeficiente Internacional Normatizado/tendências , Fígado/virologia , Cirrose Hepática/epidemiologia , Cirrose Hepática/patologia , Cirrose Hepática/virologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Albumina Sérica/análise , Índice de Gravidade de Doença
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