3,589 results match your criteria acth deficiency

Tildacerfont in Adults with Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.

J Clin Endocrinol Metab 2021 Jun 19. Epub 2021 Jun 19.

Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, Ann Arbor, MI and Department of Pharmacology, University of Michigan, Ann Arbor, MI.

Context: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is typically treated with lifelong supraphysiologic doses of glucocorticoids (GCs). Tildacerfont, a corticotropin-releasing factor type-1 receptor antagonist, may reduce excess androgen production, allowing for GC dose reduction.

Objective: Assess tildacerfont safety and efficacy. Read More

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Facilitation of drug-resistant epilepsy and catastrophic status epilepticus in children with combined pituitary hormone deficiency.

Eur J Paediatr Neurol 2021 Jun 6;33:99-105. Epub 2021 Jun 6.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Germany; Faculty of Medicine, University of Freiburg, Germany; Department of Paediatrics and Department of Neuroscience, Cumming School of Medicine, University of Calgary, Canada; Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Canada.

Purpose: Clinicians and researchers often focus on the primary cause of seizures and epilepsy, but outcomes in individual patients also depend on multiple other variables, which might be easy to adjust. Previous studies suggest mutual interactions between endocrine disorders and epilepsy. We therefore hypothesized that combined pituitary hormone deficiency (CPHD) facilitates seizures and epilepsy. Read More

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Pembrolizumab-Induced Hypophysitis With Isolated Adrenocorticotropic Hormone (ACTH) Deficiency: A Rare Immune-Mediated Adverse Event.

Cureus 2021 Jun 5;13(6):e15465. Epub 2021 Jun 5.

Medicine and Endocrinology, State University of New York (SUNY) Downstate Medical Center, Brooklyn, USA.

Pembrolizumab is an immune checkpoint inhibitor that targets the programmed cell death protein 1 antigen to stimulate an immune response against tumor cells. It has successfully induced remission in patients with severe metastatic disease, including those refractory to other chemotherapeutic regimens. Immune checkpoint inhibitors may result in immune-related adverse events affecting multiple organs, including endocrine organs, leading to thyroiditis and hypophysitis, among others. Read More

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Heart Rate Variability in Postoperative Patients with Nonfunctioning Pituitary Adenoma.

Endocrinol Metab (Seoul) 2021 Jun 10. Epub 2021 Jun 10.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Background: Decreased heart rate variability (HRV) has been reported to be associated with cardiac autonomic dysfunction. Hypopituitarism in nonfunctioning pituitary adenoma (NFPA) is often linked to increased cardiovascular mortality. We therefore hypothesized that postoperative NFPA patients with hormone deficiency have an elevated risk of HRV alterations indicating cardiac autonomic dysfunction. Read More

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Immune checkpoint inhibitor combination therapies very frequently induce secondary adrenal insufficiency.

Sci Rep 2021 Jun 2;11(1):11617. Epub 2021 Jun 2.

Department of Nephrology and Endocrinology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

Immune checkpoint inhibitors (ICIs) are potent therapeutic options for many types of advanced cancer. The expansion of ICIs use however has led to an increase in immune-related adverse events (irAEs). Secondary adrenal insufficiency (AI) can be life-threatening especially in patients with delayed diagnosis. Read More

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Case of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency.

Oxf Med Case Reports 2021 May 24;2021(5):omab021. Epub 2021 May 24.

Division of Pediatric Endocrinology, Michigan State University/Helen DeVos Children's Hospital, Grand Rapids, Michigan, 100 MI St NE, Grand Rapids, MI, USA.

Salt losing 3-β-hydroxysteroid dehydrogenase deficiency (HSD3B2) is a rare form of congenital adrenal hyperplasia, seen in <0.5% of cases. We present a 7-year-old male diagnosed with HSD3B2 deficiency, not identified by state newborn screen, due to a novel variant identified in the HSD3B2 gene (c. Read More

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Onset of fulminant type 1 diabetes mellitus following hypophysitis after discontinuation of combined immunotherapy. A case report.

J Diabetes Investig 2021 May 28. Epub 2021 May 28.

Endocrinology and Nutrition Department, Hospital Clínic de Barcelona, Barcelona, Spain.

Diabetes is a rare but potentially life-threatening adverse event of immune checkpoint inhibitors that requires prompt recognition and treatment. It usually occurs in the first 3 months of treatment and is typically related to programmed cell death-1 antibodies, alone or in combined therapy. It has rarely been described developing after immunotherapy cessation. Read More

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Silent, isolated ACTH deficiency in malignant melanoma patients treated with immune checkpoint inhibitors.

BMJ Case Rep 2021 May 27;14(5). Epub 2021 May 27.

Department of Oncology, Oslo University Hospital, Oslo, Norway.

Treatment with immune checkpoint inhibitors (ICI) has drastically improved the prognosis for melanoma patients, but immune-mediated adverse events can occur in any organ, including the pituitary. In ICI-induced hypophysitis, lymphocytic infiltration and hypersensitivity reactions cause headache and pituitary deficiency. Most cases with ICI-induced hypophysitis develop central adrenal insufficiency. Read More

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Anti-pituitary antibodies and susceptible human leukocyte antigen alleles as predictive biomarkers for pituitary dysfunction induced by immune checkpoint inhibitors.

J Immunother Cancer 2021 May;9(5)

Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan

Background: Pituitary dysfunction is a life-threatening immune-related adverse event (irAE) induced by immune checkpoint inhibitors (ICIs). To date, it is not possible to identify patients who may develop pituitary irAEs prior to ICI treatment. The aim of this study was to characterize the predisposition for ICI-induced pituitary irAEs by analyzing anti-pituitary antibodies (APAs) and human leukocyte antigens (HLAs). Read More

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Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome.

Case Rep Endocrinol 2021 27;2021:5562831. Epub 2021 Apr 27.

Department of Endocrinology, La Rabta University Hospital, University of Tunis-El Manar, Faculty of Medicine, Tunis, Tunisia.

Isolated corticotrope deficiency is a rare cause of secondary adrenocortical insufficiency. Its occurrence in patients with Down syndrome is exceptional. Herein, we report a case of an isolated corticotrope deficiency diagnosed at the age of 33 years in a woman with Down syndrome and discuss its possible mechanisms. Read More

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Early hormonal recovery following endoscopic transsphenoidal surgery for silent non-functioning pituitary adenomas with hormone dysfunction.

J Neurooncol 2021 Jun 17;153(2):343-350. Epub 2021 May 17.

Department of Neurosurgery, Brain Tumor Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Purpose: The role of transsphenoidal surgery in the recovery of preexisting hormone dysfunction from pituitary tumors remains controversial. This study aimed to investigate the incidence of hormone dysfunction among asymptomatic non-functioning pituitary adenomas and their recovery following endoscopic transsphenoidal surgery.

Methods: Eligibility criteria included age under 80 years, presence of a non-functioning pituitary adenoma compressing the normal gland resulting in deviation of the stalk, absence of visual symptoms, and availability for regular follow-up using MRI and pre- and post-operative endocrinological assessments. Read More

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Late diagnosis of classic congenital adrenal hyperplasia: long-term consequences during adulthood.

Endocrinol Diabetes Metab Case Rep 2021 May 1;2021. Epub 2021 May 1.

Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Center, Coimbra, Portugal.

Summary: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to enzyme deficiencies in the adrenal steroidogenesis pathway leading to impaired corticosteroid biosynthesis. Depending on the extension of enzyme defect, there may be variable severities of CAH - classic and non-classic. We report the case of a 37-year-old male patient with a previously unknown diagnosis of classic CAH referred to Endocrinology evaluation due to class III obesity and insulin resistance. Read More

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Mechanistic insights into immune checkpoint inhibitor-related hypophysitis: a form of paraneoplastic syndrome.

Cancer Immunol Immunother 2021 May 11. Epub 2021 May 11.

Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.

Background: Immune checkpoint inhibitors (ICIs) as a cancer immunotherapy have emerged as a treatment for multiple advanced cancer types. Because of enhanced immune responses, immune-related adverse events (irAEs), including endocrinopathies such as hypophysitis, have been associated with the use of ICIs. Most underlying mechanisms of ICI-related hypophysitis remain unclear, especially for programmed cell death-1 (PD-1)/PD-1 ligand 1 (PD-L1) inhibitors. Read More

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Pituitary Apoplexy: A Retrospective Study of 33 Cases From a Single Center.

Front Endocrinol (Lausanne) 2021 15;12:656950. Epub 2021 Apr 15.

Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.

Purpose: Acute symptomatic pituitary apoplexy is a rare and potentially life-threatening condition. However, pituitary apoplexy can also present with milder symptoms and stable hemodynamics. Due to the rarity of this inhomogeneous condition, clinical studies are important to increase the knowledge. Read More

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Management of hypopituitarism: a perspective from the Brazilian Society of Endocrinology and Metabolism.

Arch Endocrinol Metab 2021 Feb 24. Epub 2021 Feb 24.

Unidade de Neuroendocrinologia, Laboratório de Endocrinologia Celular e Molecular LIM-25, Divisão de Endocrinologia e Metabolismo, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.

Hypopituitarism is a disorder characterized by insufficient secretion of one or more pituitary hormones. New etiologies of hypopituitarism have been recently described, including head trauma, cerebral hemorrhage, and drug-induced hypophysitis. The investigation of patients with these new disorders, in addition to advances in diagnosis and treatment of hypopituitarism, has increased the prevalence of this condition. Read More

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February 2021

Immune checkpoint inhibitor related hypophysitis: diagnostic criteria and recovery patterns.

Endocr Relat Cancer 2021 Jun 2;28(7):419-431. Epub 2021 Jun 2.

Division of Internal Medicine, Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas Anderson Cancer Center, Houston, Texas, USA.

Data on the diagnosis, natural course and management of immune checkpoint inhibitor (ICI)-related hypophysitis (irH) are limited. We propose this study to validate the diagnostic criteria, describe characteristics and hormonal recovery and investigate factors associated with the occurrence and recovery of irH. A retrospective study including patients with suspected irH at the University of Texas MD Anderson Cancer Center from 5/2003 to 8/2017 was conducted. Read More

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Autoimmune polyendocrine syndrome type 3, characterized by autoimmune thyroid disease, type 1 diabetes mellitus, and isolated ACTH deficiency, developed during adjuvant nivolumab treatment.

Asia Pac J Clin Oncol 2021 Apr 18. Epub 2021 Apr 18.

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Autoimmune polyendocrine syndrome (APS) is one of the life-threatening immune-related adverse events (irAEs). We firstly report a case of APS induced by adjuvant nivolumab therapy. Clinicians should be aware of the potential risks of developing severe irAEs when applying adjuvant immunotherapy. Read More

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The way toward adulthood for females with nonclassic congenital adrenal hyperplasia.

Endocrine 2021 Jul 14;73(1):16-30. Epub 2021 Apr 14.

1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, Athens, Greece.

Females with NC21OHD may present as asymptomatic or develop a wide range of androgen excess expression. Clinical manifestations may become evident in childhood and adolescence and include premature pubarche, precocious puberty, acne, hirsutism, and menstrual disorders or present later in life as oligo-ovulation and infertility. Glucocorticoids have been the mainstay of treatment as they regulate excess androgen expression by dampening ACTH activation. Read More

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Clinical and hormonal profiles correlate with molecular characteristics in patients with 11β-hydroxylase deficiency.

J Clin Endocrinol Metab 2021 Apr 8. Epub 2021 Apr 8.

Department of Pediatric Endocrinology and Diabetes, Marmara University, Faculty of Medicine, Istanbul, Turkey.

Background: Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and non-classic 11βOHD (NC-11βOHD).

Objective: To characterize a multicenter pediatric cohort with 11βOHD.

Method: The clinical and biochemical characteristics were retrospectively retrieved. Read More

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Autoimmune hypophysitis as a cause of adrenocorticotropic hormone deficiency in pulmonary arterial hypertension: a case report.

Eur Heart J Case Rep 2021 Mar 31;5(3):ytab117. Epub 2021 Mar 31.

Department of Cardiology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.

Background : Severe pulmonary arterial hypertension (PAH) is generally treated with multiple PAH-specific vasodilators. If these agents are unsuccessful, additional treatment options are scarce, and the prognosis is poor due to right-sided heart failure. Some of these severe cases are also accompanied by endocrinological side effects. Read More

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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation.

Ann Pediatr Endocrinol Metab 2021 Mar 31;26(1):66-70. Epub 2021 Mar 31.

Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Read More

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The Effect of Vasopressin Antagonists on Maternal-Separation-Induced Ultrasonic Vocalization and Stress-Hormone Level Increase during the Early Postnatal Period.

Brain Sci 2021 Mar 30;11(4). Epub 2021 Mar 30.

Institute of Experimental Medicine, 1085 Budapest, Hungary.

In adults, vasopressin exerts an anxiogenic effect, but less is known about the perinatal period. As a sign of distress, rat pups emit ultrasonic vocalizations when they are separated from their mothers, known as maternal separation-induced ultrasonic vocalization (MS-USV). Previously, reduced MS-USV was reported in 7-8-day-old genetically vasopressin-deficient Brattleboro rats. Read More

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A Case of Canine Polyglandular Deficiency Syndrome with Diabetes Mellitus and Hypoadrenocorticism.

Vet Sci 2021 Mar 7;8(3). Epub 2021 Mar 7.

Earth Animal Hospital, 4-3-43 Hokushin-cho, Kitami, Hokkaido 090-0052, Japan.

This report describes the first clinical case, to our knowledge, of a dog with polyglandular deficiency syndrome with diabetes mellitus and hypoadrenocorticism. A six-year-old female Cavalier King Charles Spaniel presented with a history of lethargy and appetite loss. The dog was diagnosed with diabetic ketoacidosis based on hyperglycemia and renal glucose and ketone body loss. Read More

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Investigation of the Hypothalamo-pituitary-adrenal (HPA) axis: a contemporary synthesis.

Rev Endocr Metab Disord 2021 Jun 26;22(2):179-204. Epub 2021 Mar 26.

Department of Endocrinology, Yeditepe University, Medical School, Istanbul, Turkey.

The hypothalamo-pituitary-adrenal (HPA) axis is one of the main components of the stress system. Maintenance of normal physiological events, which include stress responses to internal or external stimuli in the body, depends on appropriate HPA axis function. In the case of severe cortisol deficiency, especially when there is a triggering factor, the patient may develop a life-threatening adrenal crisis which may result in death unless early diagnosis and adequate treatment are carried out. Read More

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Isolated ACTH deficiency induced by cancer immunotherapy: a systematic review.

Pituitary 2021 Mar 24. Epub 2021 Mar 24.

Department of Endocrinology, Hospital Universitario Puerta de Hierro Majadahonda, Calle Manuel de Falla 1, 28222, Madrid, Spain.

Immunotherapy with immune checkpoint inhibitor (ICI) monoclonal antibodies has shown to be an effective therapeutic alternative in several malignant tumors. However, adverse effects related to an activation of the immune system may accompany ICI therapy. Among the immune-related adverse events (irAEs) are autoimmune endocrine adverse effects, such as thyroiditis, and hypophysitis. Read More

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Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis.

Adv Clin Exp Med 2021 Mar;30(3):289-299

Children's Hospital of Chongqing Medical University, China.

Background: 3β-HSD deficiency is a rare type of congenital adrenal hyperplasia (CAH), which is caused by HSD3B2 gene mutations.

Objectives: In order to improve the understanding and diagnosis of the disease, we analyzed and summarized the clinical characteristics, genetic variants and treatment for 3 children with 3β-HSD deficiency in this study.

Material And Methods: A summary of the clinical data, hormone levels (17-hydroxyprogesterone, adrenocorticotropic hormone, cortisol, testosterone, dehydroepiandrosterone, androstenedione, renin, and aldosterone), therapeutic drugs, and gene sequencing results from 3 3β-HSD deficiency patients was created. Read More

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17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports.

World J Clin Cases 2021 Mar;9(8):1923-1930

Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, Anhui Province, China.

Background: p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals. However, data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p. Read More

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Isolated adrenocorticotropic hormone deficiency induced by nivolumab treatment for advanced gastric cancer.

Clin J Gastroenterol 2021 Mar 14. Epub 2021 Mar 14.

Department of Surgery, Kochi Medical School, Kohasu, Oko-cho, Nankoku, Kochi, 783-8505, Japan.

Isolated adrenocorticotropic hormone (ACTH) deficiency is a rare immune-related adverse event associated with immunotherapy using immune checkpoint inhibitors for malignant tumors. A 68-year-old man had previously undergone a complete gastrectomy with regional lymph-node dissection for remnant gastric cancer, with a final diagnosis of T4aN2M1, Stage IV. Because he developed lymph-node metastases during postoperative chemotherapy using S-1 plus oxaliplatin, he was treated with ramucirumab plus nab-paclitaxel. Read More

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Mice lacking PC1/3 expression in POMC-expressing cells do not develop obesity.

Endocrinology 2021 Mar 10. Epub 2021 Mar 10.

Department of Anatomy and Neurobiology, University of Maryland-Baltimore, Baltimore, MD.

Pro-opiomelanocortin (POMC) neurons form an integral part of the central melanocortin system regulating food intake and energy expenditure. Genetic and pharmacological studies have revealed that defects in POMC synthesis, processing, and receptor signaling lead to obesity. It is well established that POMC is extensively processed by a series of enzymes, including prohormone convertases PC1/3 and PC2, and that genetic insufficiency of both PC1/3 and POMC is strongly associated with obesity risk. Read More

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Growth hormone deficiency and other endocrinopathies after childhood brain tumors: results from a close follow-up in a cohort of 242 patients.

J Endocrinol Invest 2021 Mar 8. Epub 2021 Mar 8.

Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.

Purpose: Brain tumors are the most common solid tumor in children. The prevalence of survivors from these cancers has been increasing, presenting endocrine sequelae in more than 40% of the cases. Our aim was to characterize the endocrinopathies diagnosed in this population, exploring the outcomes of growth hormone treatment. Read More

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