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Endocrinology, Diabetes & Metabolism Case Reports

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https://www.readbyqxmd.com/read/30481153/utilisation-of-gonadotrophin-releasing-hormone-gnrh-analogue-to-differentiate-ovarian-from-adrenal-hyperandrogenism-in-postmenopausal-women
#1
E Bahaeldein, M J Brassill
Postmenopausal hyperandrogenism is a relatively rare diagnosis resulting from excess androgen production from the adrenals or ovaries. The exclusion of malignant causes is a priority. Laboratory tests and imaging are utilised to help differentiate the source of excess androgens. We report two cases of postmenopausal hyperandrogenism in women aged 75 and 67 years. Both cases presented with clinical features suggestive of hyperandrogenism which had developed gradually over the previous 2 years. Laboratory investigations confirmed a significant elevation in their serum testosterone levels...
November 22, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30481152/lhx3-deficiency-presenting-in-the-united-states-with-severe-developmental-delay-in-a-child-of-syrian-refugee-parents
#2
Susan Ahern, Mark Daniels, Amrit Bhangoo
In this case report, we present a novel mutation in Lim-homeodomain (LIM-HD) transcription factor, LHX3, manifesting as combined pituitary hormone deficiency (CPHD). This female patient was originally diagnosed in Egypt during infancy with Diamond Blackfan Anemia (DBA) requiring several blood transfusions. Around 10 months of age, she was diagnosed and treated for central hypothyroidism. It was not until she came to the United States around two-and-a-half years of age that she was diagnosed and treated for growth hormone deficiency...
November 22, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30481151/addison-s-disease-in-antiphospholipid-syndrome-a-rare-complication
#3
Diana Oliveira, Mara Ventura, Miguel Melo, Sandra Paiva, Francisco Carrilho
Addison's disease (AD) is the most common endocrine manifestation of antiphospholipid syndrome (APS), but it remains a very rare complication of the syndrome. It is caused by adrenal venous thrombosis and consequent hemorrhagic infarction or by spontaneous (without thrombosis) adrenal hemorrhage, usually occurring after surgery or anticoagulant therapy. We present a clinical case of a 36-year-old female patient with a previous diagnosis of APS. She presented with multiple thrombotic events, including spontaneous abortions...
November 22, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30475216/honey-dressing-on-a-leg-ulcer-with-tendon-exposure-in-a-patient-with-type-2-diabetes
#4
Ilaria Teobaldi, Vincenzo Stoico, Fabrizia Perrone, Massimiliano Bruti, Enzo Bonora, Alessandro Mantovani
Honey has been used as a wound dressing for hundreds of years by ancient civilizations, but only recently it has acquired scientific interest because of its relevant biological properties. In the last decade, indeed, several trials and observational studies have reported that, compared to conventional treatment (e.g. antiseptics, polyurethane film, paraffin gauze, soframycin-impregnated gauze), honey dressings seem to be better in healing time of different types of wounds, including diabetic foot ulcers. However, to date, information about a potential favorable biological effect of honey dressings on diabetic ulcers with exposed tendon are still scarce...
November 16, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30427165/an-unusual-presentation-of-post-gastric-bypass-hypoglycemia-with-both-postprandial-and-fasting-hypoglycemia
#5
Xin Chen, Dina Kamel, Braden Barnett, Evan Yung, Adrienne Quinn, Caroline Nguyen
There has been an increasing awareness of post gastric bypass hypoglycemia (PGBH). Histopathologic findings from such patients who underwent partial/total pancreatomy, however, can vary widely from minimal changes to classic nesidioblastosis, making the pathologic diagnosis challenging. PGBH typically presents as postprandial hypoglycemia, as opposed to insulinoma, which presents as fasting hypoglycemia. Herein, we describe an unusual case of a patient with PGBH who initially presented with postprandial hypoglycemia three years after surgery, but later developed fasting hyperinsulinemic hypoglycemia as the disease progressed...
October 31, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30427164/diabetic-ketoacidosis-following-peg-asparaginase-therapy
#6
Miriam Hinaa Ahmad, Ismat Shafiq
We report a case of a 21-year-old African American female with history of pre-diabetes, and a diagnosis of a rare leukemia, blastic-plasmacytoid dendritic neoplasm (BPDCN), who developed diabetic ketoacidosis (DKA) after the third dose of PEG-asparaginase infusion. She was successfully treated with insulin. Asparaginase is a vital part of treatment protocols for acute lymphoblastic leukemia (ALL) in combination with other chemotherapeutic drugs. Asparaginase therapy has been reported to cause hyperglycemia especially when used in conjunction with glucocorticoids for the treatment of ALL in the pediatric population...
October 31, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30422607/acute-milk-alkali-syndrome
#7
Bidhya Timilsina, Niranjan Tachamo, Prem Raj Parajuli, Ilan Gabriely
Summary: A 74-year-old woman presented with progressive lethargy, confusion, poor appetite and abdominal pain. She was found to have non-PTH-mediated severe hypercalcemia with renal failure and metabolic alkalosis. Extensive workup for hypercalcemia to rule out alternate etiology was unrevealing. Upon further questioning, she was taking excess calcium carbonate (Tums) for her worsening heartburn. She was diagnosed with milk-alkali syndrome (MAS). Her hypercalcemia and alkalosis recovered completely with aggressive hydration along with improvement in her renal function...
October 31, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30328339/a-rare-variety-of-congenital-adrenal-hyperplasia-with-mosaic-klinefelter-syndrome-a-unique-combination-presenting-with-ambiguous-genitalia-and-sexual-precocity
#8
M A Shehab, Tahseen Mahmood, M A Hasanat, Md Fariduddin, Nazmul Ahsan, Mohammad Shahnoor Hossain, Md Shahdat Hossain, Sharmin Jahan
Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male. However, only a handful of cases of mosaic KS have been described in the literature. The co-existence of mosaic KS with CAH due to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency are masked by simultaneous adrenal androgen excess...
October 13, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306786/effective-long-term-temozolomide-rechallenge-in-a-macroprolactinoma
#9
Benedetta Zampetti, Giorgia Simonetti, Roberto Attanasio, Antonio Silvani, Renato Cozzi
We describe the 20-year course of a 63-year-old male with a macroprolactinoma that acquired resistance to treatment and aggressive behavior after a 4-year successful treatment with cabergoline. He was submitted to multiple surgical resections by a skilled surgeon, fractionated radiotherapy and was eventually treated with temozolomide. After a first 6-month standard cycle, a relapse occurred and he was treated again successfully. Learning points: •• Prolactinomas are the most frequent type of pituitary adenoma...
September 25, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306785/dicer1-mutation-and-pituitary-prolactinoma
#10
Ellena Cotton, David Ray
A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma when she became amenorrhoic. The mutation was identified as a result of family screening following the early death of the patient’s daughter with ovarian cancer. The patient was in follow-up screening for thyroid disease, and investigations were initiated when she became amenorrhoic. MR scan revealed a 6 mm diameter pituitary microadenoma and raised prolactin. The prolactin was efficiently suppressed with low-dose cabergoline, and her menstrual cycles resumed...
September 25, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306783/a-novel-casr-mutation-p-glu757lys-causing-autosomal-dominant-hypocalcaemia-type-1
#11
Benjamin Kwan, Bernard Champion, Steven Boyages, Craig F Munns, Roderick Clifton-Bligh, Catherine Luxford, Bronwyn Crawford
Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in CASR causing ADH1. Mild neuromuscular symptoms (paraesthesia, carpopedal spasm) were present in most affected individuals and required treatment with calcium and calcitriol...
September 25, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306780/hyponatremia-after-anticoagulant-treatment-a-rare-cause-of-adrenal-failure
#12
Benedetta Zampetti, Roberto Attanasio, Renato Cozzi
A 69-year-old male was admitted for severe hyponatremia disclosed after an accidental fall. He was anticoagulated from 2 months after the implantation of a biologic aortic valve prosthesis. The work-up disclosed adrenal failure and MRI showed bilateral adrenal hemorrhage. Clinical picture and lab parameters normalized quickly after the appropriate replacement treatment. Anticoagulation excess should be added to the list of drugs potentially causing hyponatremia. Learning points: •• Hyponatremia requires a complete and timely workup in order to start an appropriate treatment for the improvement of clinical conditions...
September 25, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306779/resistance-to-thyroid-hormone-accompanied-by-atrial-fibrillation
#13
Haruhiro Sato, Yuichiro Tomita
Resistance to thyroid hormone (RTH), which is primarily caused by mutations in the thyroid hormone (TH) receptor beta (THRB) gene, is dominantly inherited syndrome of variable tissue hyposensitivity to TH. We herein describe a case involving a 22-year-old Japanese man with RTH and atrial fibrillation (AF) complaining of palpitation and general fatigue. Electrocardiography results revealed AF. He exhibited elevated TH levels and an inappropriately normal level of thyroidstimulating hormone (TSH). Despite being negative for anti-TSH receptor antibody, thyroid-stimulating antibody and anti-thyroperoxidase antibody, the patient was positive for anti-thyroglobulin (Tg) antibody...
September 25, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306778/unusual-high-blood-glucose-in-ketoacidosis-as-first-presentation-of-type-1-diabetes-mellitus
#14
Sebastian Hörber, Sarah Hudak, Martin Kächele, Dietrich Overkamp, Andreas Fritsche, Hans-Ulrich Häring, Andreas Peter, Martin Heni
Diabetic ketoacidosis is a life-threatening complication of diabetes mellitus. It usually occurs in patients with type 1 diabetes where it is typically associated with only moderately increased blood glucose. Here, we report the case of a 52-year-old female patient who was admitted to the emergency unit with severely altered mental status but stable vital signs. Laboratory results on admission revealed very high blood glucose (1687 mg/dL/93.6 mmol/L) and severe acidosis (pH <7) with proof of ketone bodies in serum and urine...
September 25, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306776/mitochondrial-disease-an-uncommon-but-important-cause-of-diabetes-mellitus
#15
Ming Li Yee, Rosemary Wong, Mineesh Datta, Timothy Nicholas Fazlo, Mina Mohammad Ebrahim, Elissa Claire Mcnamara, Gerard De Jong, Christopher Gilfillan
Mitochondrial diseases are rare, heterogeneous conditions affecting organs dependent on high aerobic metabolism. Presenting symptoms and signs vary depending on the mutation and mutant protein load. Diabetes mellitus is the most common endocrinopathy, and recognition of these patients is important due to its impact on management and screening of family members. In particular, glycemic management differs in these patients: the use of metformin is avoided because of the risk of lactic acidosis. We describe a patient who presented with gradual weight loss and an acute presentation of hyperglycemia complicated by the superior mesenteric artery syndrome...
September 25, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306774/emergence-of-a-latent-tshoma-pituitary-macroadenoma-on-a-background-of-primary-autoimmune-hypothyroidism
#16
Yew Wen Yap, Steve Ball, Zubair Qureshi
The coexistence of primary hypothyroidism and thyroid-stimulating hormone (TSH)-stimulating pituitary macroadenoma can be a rare occurrence and can make diagnosis very challenging. We describe a case of a 44-year-old female with a history of fatigue, poor concentration, weight gain and amenorrhoea together with biochemical evidence of primary autoimmune hypothyroidism. Her initial TSH levels were elevated with low normal free thyroxine (T4) levels. Levothyroxine treatment was initiated and the dose was gradually titrated to supraphysiologic doses...
September 25, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30306788/refractory-spontaneous-hypoglycaemia-a-diagnostic-conundrum
#17
Seong Keat Cheah, David Halsall, Peter Barker, John Grant, Abraham Mathews, Shyam Seshadri, Singhan Krishnan
A frail 79-year-old lady with dementia presented with a 2-year history of frequent falls. Recurrent hypoglycaemic episodes were diagnosed and treated with continuous glucose infusion in multiple hospital admissions. Hypoadrenalism and hypothyroidism were ruled out. Whilst hypoglycaemic (blood glucose 1.6 mmol/L), both plasma C-peptide and proinsulin concentrations, were inappropriately elevated at 4210 pmol/L (174–960) and >200 pmol/L (0–7) respectively with plasma insulin suppressed at 12 pmol/L (0–180)...
September 24, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30159150/mitotane-in-the-treatment-of-childhood-adrenocortical-carcinoma-a-potent-endocrine-disruptor
#18
Philip D Oddie, Benjamin B Albert, Paul L Hofman, Craig Jefferies, Stephen Laughton, Philippa J Carter
Adrenocortical carcinoma (ACC) during childhood is a rare malignant tumor that frequently results in glucocorticoid and/or androgen excess. When there are signs of microscopic or macroscopic residual disease, adjuvant therapy is recommended with mitotane, an adrenolytic and cytotoxic drug. In addition to the anticipated side effect of adrenal insufficiency, mitotane is known to cause gynecomastia and hypothyroidism in adults. It has never been reported to cause precocious puberty. A 4-year-old girl presented with a 6-week history of virilization and elevated androgen levels and 1-year advancement in bone age...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30159149/my-tummy-hurts-a-case-report-of-abdominal-pain-and-macrocytic-anemia-caused-by-hypothyroidism
#19
Kewan Hamid, Neha Dayalani, Muhammad Jabbar, Elna Saah
A 6-year-old female presented with chronic intermittent abdominal pain for 1 year. She underwent extensive investigation, imaging and invasive procedures with multiple emergency room visits. It caused a significant distress to the patient and the family with multiple missing days at school in addition to financial burden and emotional stress the child endured. When clinical picture was combined with laboratory finding of macrocytic anemia, a diagnosis of hypothyroidism was made. Although chronic abdominal pain in pediatric population is usually due to functional causes such as irritable bowel syndrome, abdominal migraine and functional abdominal pain...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30159148/a-case-of-a-co-secreting-tsh-and-growth-hormone-pituitary-adenoma-presenting-with-a-thyroid-nodule
#20
Laura Hamilton Adams, Derick Adams
Co-secreting TSH and growth hormone pituitary adenomas are rare. We present a case of a 55-year-old woman who presented with symptoms of neck fullness. Ultrasound revealed multiple thyroid nodules and examination revealed several clinical features of acromegaly. She was found to have a co-secreting TSH and growth hormone pituitary macroadenoma. She underwent surgical resection followed by gamma knife radiation, which resulted in complete remission of her TSH and GH-secreting adenoma. Learning points: TSH-secreting pituitary adenomas are rare and about one-third co-secrete other hormones...
2018: Endocrinology, Diabetes & Metabolism Case Reports
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