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Journals Endocrinology, Diabetes & Meta...

Endocrinology, Diabetes & Metabolism Case Reports

https://read.qxmd.com/read/37042492/a-family-with-type-a-insulin-resistance-syndrome-caused-by-a-novel-insulin-receptor-mutation
#1
JOURNAL ARTICLE
Osamu Horikawa, Satoshi Ugi, Tomofumi Takayoshi, Yasushi Omura, Maya Yonishi, Daisuke Sato, Yukihiro Fujita, Tomoya Fuke, Yushi Hirota, Wataru Ogawa, Hiroshi Maegawa
SUMMARY: A 17-year-old boy was referred to our endocrinology clinic for a clinical investigation of hyperinsulinemia. An oral glucose tolerance test showed plasma glucose concentrations in the normal range. However, insulin concentrations were considerably elevated (0 min: 71 μU/mL; 60 min: 953 μU/mL), suggesting severe insulin resistance. An insulin tolerance test confirmed that he had insulin resistance. There was no apparent hormonal or metabolic cause, including obesity...
April 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37227189/insulinoma-with-equivocal-imaging
#2
JOURNAL ARTICLE
Wafa Belabed, Fatma Mnif, Abdel Mouhaymen Missaoui, Mouna Elleuch, Dhoha Ben Salah, Nadia Charfi, Mouna Mnif, Nabila Rekik, Faten Hadj Kacem, Mohamed Abid
SUMMARY: A 55-year-old patient was admitted to our department for the management of a repetitive alteration of consciousness. Biological investigation results were consistent with endogenous hyperinsulinemic hypoglycemia. Insulinoma was therefore suspected. Abdominal computed tomography and endoscopic ultrasound showed no obvious pancreatic mass.Somatostatin receptor scintigraphy showed abnormal radioactive uptake in both the pancreatic tail and the uncinate process. Contrariwise, abdominal magnetic resonance imaging showed a unique lesion in the pancreas tail...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37219507/use-of-plasma-rich-in-growth-factors-for-symptoms-of-diabetic-neuropathy
#3
JOURNAL ARTICLE
S J Roman, Zach Broyer
SUMMARY: Painful peripheral polyneuropathy is a common complication of diabetes mellitus (DM) and is a significant source of chronic disability and remains a challenging condition with no available disease-modifying treatment. In the present case report, we describe the treatment of a patient featuring painful diabetic neuropathy with perineural injections of autologous plasma rich in growth factors (PRGF). At one-year post-procedure, the patient exhibited improved scores on the neuropathic pain scale and improvement in the activity level...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37219505/congenital-hyperinsulinism-and-panhypopituitarism-a-rare-combination
#4
JOURNAL ARTICLE
Foram Patel, Ginger Darling, Ahmed Torky
SUMMARY: Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and includes hyperinsulinism as well as panhypopituitarism. The FOXA2 gene has been involved in the development of the pancreas as well as the pituitary gland. Six cases have been reported thus far with FOXA2 mutations presenting with variable degrees of hypopituitarism, and only two patients had permanent hyperinsulinism; other cases have been reported with microdeletions in 20p11, the location that encompasses FOXA2, and those patients presented with a wider phenotype...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37212480/central-serous-chorioretinopathy-secondary-to-intramuscular-testosterone-therapy
#5
JOURNAL ARTICLE
M Lockhart, E Ali, M Mustafa, W Tormey, S Sreenan, A Saaed, J H McDermott
SUMMARY: A patient treated with intramuscular testosterone replacement therapy for primary hypogonadism developed blurred vision shortly after receiving his testosterone injection. The symptom resolved over subsequent weeks and recurred after his next injection. A diagnosis of central serous chorioretinopathy (CSR) was confirmed following ophthalmology review. A decision was made to change the patient's testosterone regime from this 12-weekly intramuscular injection to a daily topical testosterone gel, given the possibility that peak blood levels of testosterone following intramuscular injection were causing his ocular complaint...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37212478/stress-induced-severe-transient-hypercortisolism-with-reversible-bilateral-adrenal-enlargement-after-cardiogenic-shock
#6
JOURNAL ARTICLE
Jairo Arturo Noreña, Medha Joshi, Mandip S Rawla, Elizabeth Jenkins, Elias S Siraj
SUMMARY: Acute illness-related stress can result in severe hypercortisolism and bilateral adrenal enlargement in certain patients. We report a case of stress-induced hypercortisolism and bilateral adrenal enlargement in a patient admitted for acute respiratory distress and cardiogenic shock. Bilateral adrenal enlargement and hypercortisolism found during hospitalization for acute illness resolved 3 weeks later following the resolution of acute illness. Acute illness can be a precipitating factor for stress-induced hypercortisolism and bilateral adrenal enlargement...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37199305/diagnosis-of-17-alpha-hydroxylase-deficiency-performed-late-in-life-in-a-patient-with-a-46-xy-karyotype
#7
JOURNAL ARTICLE
Bruno Bouça, Mariana Cascão, Pedro Fiúza, Sara Amaral, Paula Bogalho, José Silva-Nunes
SUMMARY: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m2, cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37192129/regression-from-stage-3-to-stage-2-type-1-diabetes-mellitus-after-discontinuing-growth-hormone-therapy
#8
JOURNAL ARTICLE
Micah A Fischer, Ghada A Elmahmudi, Bracha K Goldsweig, Salaheddin H Elrokhsi
SUMMARY: Multiple research studies address the anti-insulinemic effect of growth hormone (GH). We report a case of a patient with anterior hypopituitarism on GH replacement who later developed type 1 diabetes mellitus (T1DM). Recombinant human growth hormone (rhGH) therapy was discontinued at the time of growth completion. Because of significantly improved glycemic control, this patient was weaned off subcutaneous insulin. He regressed from stage 3 to stage 2 T1DM and remained in this status for at least 2 years and until the writing of this paper...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37183888/silent-intrathyroid-parathyroid-carcinoma
#9
JOURNAL ARTICLE
Ekaterina Kim, Ekaterina Bondarenko, Anna Eremkina, Petr Nikiforovich, Natalia Mokrysheva
SUMMARY: A 59-year-old male presented with an accidental thyroid mass in 2022. Ultrasound and CT scan showed a nodule 5.2 × 4.9 × 2.8 cm (EU-TIRADS 4) in the right lobe of the thyroid gland. Taking into account the results of the fine needle aspiration biopsy (Bethesda V), intrathyroid localization, and absence of clinical symptoms, a malignant tumor of the thyroid gland was suspected. The patient underwent total thyroidectomy using fluorescence angiography with indocyanine green, and two pairs of intact parathyroid glands were visualized in typical localization...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37183887/abnormal-thyroid-function-an-unusual-presentation-of-pituitary-stalk-interruption-syndrome
#10
JOURNAL ARTICLE
Erica A Steen, Mary E Patterson, Michelle Rivera-Vega, Susan A Phillips
SUMMARY: An 11-year-old girl with past medical history of septic shock and multi-organ failure at age 5 presented to her primary care doctor with concern for pallor of the lips. Laboratory studies demonstrated low free thyroxine (T4) and normal thyroid-stimulating hormone (TSH). A referral to endocrinology was made where the patient was evaluated, and laboratory evaluation was repeated. The patient was asymptomatic and clinically euthyroid with a height consistent with her mid-parental height and was in mid- to late-puberty...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37166908/skin-and-bones-systemic-mastocytosis-and-bone
#11
JOURNAL ARTICLE
Mawson Wang, Markus J Seibel
SUMMARY: We report the case of a 69-year-old female with systemic mastocytosis, diagnosed based on widespread pigmented papules and macules, elevated serum tryptase levels and confirmatory skin and bone marrow biopsy, on a background of osteoporosis. A CT demonstrated multiple sclerotic lesions within lumbar vertebral bodies, sacrum and ileum, with surrounding osteolysis but no obvious compression fractures. She was treated with the RANK-L inhibitor denosumab, resulting in significant bone mineral density gain over the following 5 years...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37162230/catastrophic-acth-secreting-pheochromocytoma-an-uncommon-and-challenging-entity-with-multifaceted-presentation
#12
JOURNAL ARTICLE
Luca Foppiani, Maria Gabriella Poeta, Mariangela Rutigliani, Simona Parodi, Ugo Catrambone, Lorenzo Cavalleri, Giancarlo Antonucci, Patrizia Del Monte, Arnoldo Piccardo
SUMMARY: Cushing's syndrome due to ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) by a pheochromocytoma is a challenging condition. A woman with hypertension and an anamnestic report of a 'non-secreting' left adrenal mass developed uncontrolled blood pressure (BP), hyperglycaemia and severe hypokalaemia. ACTH-dependent severe hypercortisolism was ascertained in the absence of Cushingoid features, and a psycho-organic syndrome developed. Brain imaging revealed a splenial lesion of the corpus callosum and a pituitary microadenoma...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37158573/progestin-related-breast-volume-changes-in-a-woman-with-complete-androgen-insensitivity-syndrome-cais
#13
JOURNAL ARTICLE
Benthe A M Dijkman, Christel J M de Blok, Koen M A Dreijerink, Martin den Heijer
SUMMARY: A 31-year-old woman with complete androgen insensitivity syndrome (CAIS) experienced breast volume fluctuations during biphasic hormone replacement therapy consisting of estradiol and cyclical dydrogesterone, a progestin. 3D breast volume measurements showed a 100 cc volume (17%) difference between estradiol monotherapy and combined estradiol and dydrogesterone treatment. Progestogen-dependent breast volume changes have not been reported in the literature. Our findings suggest a correlation between progestogen use and breast volume...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37140990/fulminant-type-1-diabetes-developed-after-influenza-split-vaccination
#14
JOURNAL ARTICLE
Toshitaka Sawamura, Shigehiro Karashima, Ai Ohmori, Kei Sawada, Daisuke Aono, Mitsuhiro Kometani, Yoshiyu Takeda, Takashi Yoneda
SUMMARY: Fulminant type 1 diabetes (FT1D) is a subtype of diabetes characterized by rapid progression of β-cell destruction, hyperglycemia, and diabetic ketoacidosis (DKA). The pathogenesis of this disease remains unclear. However, viral infections, HLA genes, and immune checkpoint inhibitor use were reportedly involved in this disease. A 51-year-old Japanese man with no chronic medical condition was admitted to our hospital with complaints of nausea and vomiting. Cough, sore throat, nasal discharge, and diarrhea were not noted...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37140989/x-linked-hypophosphatemic-rickets-with-advanced-bone-age-treated-with-aromatase-inhibitor
#15
JOURNAL ARTICLE
João Felipe Queiroz, Soraya Lopes Sader, Carina Marques Barroso, Guido de Paula Colares Neto
SUMMARY: We present an adolescent with X-linked hypophosphatemic rickets (XLH) with bone age advancement and its response to aromatase inhibitors (AIs). A male with XLH, confirmed with a deletion on the PHEX gene, received regular treatment since the first year of life with average growth velocity and height. He had bone age compatible with chronological age until 13 when he had a bone age advancement and a decrease in the predicted final height thought to be due to initiation of oral isotretinoin, which has been previously reported...
May 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37185284/novel-likely-pathogenic-variant-in-nr5a1-gene-in-a-tanzanian-child-with-46-xy-differences-of-sex-development-inherited-from-the-mosaic-father
#16
JOURNAL ARTICLE
Rahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, Dineke Westra, Ben Hamel
SUMMARY: Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1 gene a variable phenotype ranging from mild to severe is seen, including adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus and infertility. We report the clinical, endocrinological and genetic characteristics of a patient with 46,XY DSD with a novel likely pathogenic missense variant in the NR5A1 gene...
April 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37096980/1h-mrs-to-evaluate-improved-triglyceride-accumulation-in-idiopathic-triglyceride-deposit-cardiomyovasculopathy-after-cnt-01-tricaprin-trisdecanion-administration
#17
JOURNAL ARTICLE
Tatsuro Aikawa, Eiryu Sai, Ayako Kudo, Yuko O Kawaguchi, Kazuhisa Takamura, Makoto Hiki, Takayuki Yokoyama, Tetsuro Miyazaki, Shinichiro Fujimoto, Kazunori Shimada, Ken-Ichi Hirano, Hiroyuki Daida, Tohru Minamino
SUMMARY: Triglyceride deposit cardiomyovasculopathy (TGCV) is an intractable disease characterized by massive triglyceride (TG) accumulation in the myocardium and coronary arteries caused by genetic or acquired dysfunction of adipose TG lipase (ATGL). A phase IIa trial has been conducted involving patients with idiopathic TGCV using CNT-01 (tricaprin/trisdecanion) by the Japan TGCV study group, which showed that CNT-01 improved myocardial lipolysis as demonstrated by iodine-123-beta-methyl iodophenyl-pentadecanoic acid (BMIPP) scintigraphy...
April 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37096975/autoimmune-hypothyroidism-and-trastuzumab-therapy-a-rare-association
#18
JOURNAL ARTICLE
Valentim Lopes, Catarina Machado, Adriana De Sousa Lages
SUMMARY: We report a case of a woman with a diagnosis of breast cancer who unintentionally started gaining weight, feeling tired, and constipated 44 weeks after the initiation of trastuzumab. Hypothyroidism secondary to an autoimmune thyroiditis associated with trastuzumab was diagnosed, the first case described in Portugal and the fourth case described worldwide. Our intention regarding the publication of this case report is to alert the clinicians treating people with trastuzumab that they should ask the patients about symptoms of hypothyroidism and should screen the thyroid function of the patients before, during, and after the initiation of trastuzumab...
April 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37073856/reversibility-in-male-idiopathic-osteoporosis-possible
#19
JOURNAL ARTICLE
Ijaz S Jamall, Michael C Ullery, Massimiliano Rocchietti March, Elisa Pignatti, Vincenzo Rochira, Björn L D M Brücher
SUMMARY: A 44-year-old athletic man presented in 2009 with severe low back pain. Dual-energy x-ray absorptiometry revealed severe osteoporosis; serum testosterone was 189 ng/dL while serum estradiol (E2) measured by liquid chromatography/mass spectrometry was 8 pg/mL. DNA was extracted and sequenced from a blood sample from the patient since his maternal first cousin also had low bone mass and both patients were screened for aromatase dysfunction by PCR analysis for the CYP19A1 gene, which encodes aromatase...
April 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/37073853/two-cases-of-cardiomyopathy-associated-with-phaeochromocytoma-successfully-managed-with-veno-arterial-extracorporeal-membrane-oxygenation-v-a-ecmo
#20
JOURNAL ARTICLE
David Fennell, Clare Miller, Stephen Ludgate, John Conneely, Serena O'Brien, Ian Conrick-Martin, Jennifer Hastings, Siobhán E McQuaid
SUMMARY: Phaeochromocytoma, a rare neuroendocrine tumour of chromaffin cell origin, is characterised by catecholamine excess. Clinical presentation ranges from asymptomatic disease to life-threatening multiorgan dysfunction. Catecholamine-induced cardiomyopathy is a dreaded complication with high lethality. While there is lack of evidence-based guidelines for use of veno-arterial extracorporeal membrane oxygenation (V-A ECMO) in the management of this condition, limited to case reports and small case series, V-A ECMO has been reported as 'bridge to recovery' therapy, providing circulatory support in the initial period of stabilisation prior to surgery...
April 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
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