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Endocrinology, Diabetes & Metabolism Case Reports

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/30159147/growth-hormone-deficiency-as-a-cause-for-short-stature-in-wiedemann-steiner-syndrome
#14
George Stoyle, Siddharth Banka, Claire Langley, Elizabeth A Jones, Indraneel Banerjee
Wiedemann-Steiner Syndrome (WSS) is a rare condition characterised by short stature, hypertrichosis of the elbow, intellectual disability and characteristic facial dysmorphism due to heterozygous loss of function mutations in KMT2A , a gene encoding a histone 3 lysine 4 methyltransferase. Children with WSS are often short and until recently, it had been assumed that short stature is an intrinsic part of the syndrome. GHD has recently been reported as part of the phenotypic spectrum of WSS. We describe the case of an 8-year-old boy with a novel heterozygous variant in KMT2A and features consistent with a diagnosis of WSS who also had growth hormone deficiency (GHD)...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30159146/beat-the-giant-case-of-a-giant-prolactinoma-during-pregnancy-on-cabergoline
#15
Wael M Almistehi, Mussa H Almalki
Giant prolactinomas are a rare entity; during pregnancy, the risk for complications associated with these tumors is higher. Here, we report a case of a young woman who had an invasive, giant prolactinoma post resection with residual disease who became pregnant. This patient was treated with cabergoline to prevent tumor expansion in pregnancy, resulting in the uneventful delivery of a healthy baby boy. Learning points: Giant prolactinoma can cause both diagnostic and therapeutic challenges given their atypical presentation...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30159145/silent-gonadotroph-pituitary-neuroendocrine-tumor-in-a-patient-with-tuberous-sclerosis-complex-evaluation-of-a-possible-molecular-link
#16
Daniela Regazzo, Marina Paola Gardiman, Marily Theodoropoulou, Carla Scaroni, Gianluca Occhi, Filippo Ceccato
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem hereditary cutaneous condition, characterized by multiple hamartomas. In rare cases, pituitary neuroendocrine tumors (PitNETs) have been described in patients with TSC, but the causal relationship between these two diseases is still under debate. TSC is mostly caused by mutations of two tumor suppressor genes, encoding for hamartin (TSC1) and tuberin (TSC2), controlling cell growth and proliferation. Here, we present the case of a 62-year-old Caucasian woman with TSC and a silent gonadotroph PitNET with suprasellar extension, treated with transsphenoidal endoscopic neurosurgery with complete resection...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30159144/non-functional-duodenal-neuroendocrine-carcinoma-a-rare-cause-of-diabetes-mellitus
#17
Chad Bisambar, Andrew Collier, Fraser Duthie, Carron Meney
A 40-year-old Caucasian female presented with hyperglycaemia, polyuria, polydipsia and weight loss of 6 kg over a 1-month period. There was no personal or family history of malignancy or diabetes mellitus. On examination, she was jaundiced with pale mucous membranes and capillary glucose was 23.1 mmol/L. Initial investigations showed iron deficiency anaemia and obstructive pattern of liver function tests. HbA1c was diagnostic of diabetes mellitus at 79 mmol/mol. Malignancy was suspected and CT chest, abdomen and pelvis showed significant dilatation of intra- and extra-hepatic biliary tree including pancreatic duct, with periampullary 30 mm mass lesion projecting into lumen of duodenum...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30087780/brachydactyly-mental-retardation-syndrome-with-growth-hormone-deficiency
#18
Alireza Arefzadeh, Pooyan Khalighinejad, Bahar Ataeinia, Pegah Parvar
Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome. In this report, we describe a patient with AHO due to microdeletion in long arm of chromosome 2 [del(2)(q37.3)] who had growth hormone (GH) deficiency, which is a unique feature among reported BDMR cases. This case was presented with shortening of the fourth and fifth metacarpals which along with AHO phenotype, brings pseudopseudohypoparathyroidism (PPHP) and pseudohypoparathyroidism type Ia (PHP-Ia) to mind; however, a genetic study revealed del(2)(q37...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30087779/an-unusual-case-of-shortness-of-breath
#19
S F Wan Muhammad Hatta, L Kandaswamy, C Gherman-Ciolac, J Mann, H N Buch
Myopathy is a well-known complication of hypercortisolism and commonly involves proximal lower-limb girdle. We report a rare case of Cushing's syndrome in a 60-year-old female presenting with significant respiratory muscle weakness and respiratory failure. She had history of rheumatoid arthritis, primary biliary cirrhosis and primary hypothyroidism and presented with weight gain and increasing shortness of breath. Investigations confirmed a restrictive defect with impaired gas transfer but with no significant parenchymatous pulmonary disease...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/30087778/laugier-hunziker-syndrome-in-endocrine-clinical-practice
#20
Tanja Miličević, Ivan Žaja, Deša Tešanović, Maja Radman
Laugier-Hunziker syndrome (LHS) is a rare, benign and acquired disorder characterized by hyperpigmentation of the oral cavity and lips along with longitudinal melanonychia. No underlying systemic abnormalities or malignant predisposition is associated with it. In everyday clinical practice, an endocrinologist encounters certain endocrine conditions (e.g. Addison's disease, McCune-Albright syndrome) that present with, inter alia, mucocutaneous hyperpigmentation. Even though LHS is easily distinguished from endocrine entities mentioned earlier, diagnostic evaluation usually requires skilled and thorough practitioner...
2018: Endocrinology, Diabetes & Metabolism Case Reports
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