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Endocrinology, Diabetes & Metabolism Case Reports

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https://read.qxmd.com/read/30753133/partial-diazoxide-responsiveness-in-a-neonate-with-hyperinsulinism-due-to-homozygous-abcc8-mutation
#1
Sarah Kiff, Carolyn Babb, Maria Guemes, Antonia Dastamani, Clare Gilbert, Sarah E Flanagan, Sian Ellard, John Barton, M Dattani, Pratik Shah
We report a case of partial diazoxide responsiveness in a child with severe congenital hyperinsulinaemic hypoglycaemia (CHI) due to a homozygous ABCC8 mutation. A term baby, with birth weight 3.8 kg, born to consanguineous parents presented on day 1 of life with hypoglycaemia. Hypoglycaemia screen confirmed CHI. Diazoxide was commenced on day 7 due to ongoing elevated glucose requirements (15 mg/kg/min), but despite escalation to a maximum dose (15 mg/kg/day), intravenous (i.v.) glucose requirement remained high (13 mg/kg/min)...
February 11, 2019: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30738017/exacerbation-of-cushing-s-syndrome-during-pregnancy-stimulation-of-a-cortisol-secreting-adrenocortical-adenoma-by-acth-originating-from-the-foeto-placental-unit
#2
Matthieu St-Jean, Jessica MacKenzie-Feder, Isabelle Bourdeau, André Lacroix
A 29-year-old G4A3 woman presented at 25 weeks of pregnancy with progressive signs of Cushing's syndrome (CS), gestational diabetes requiring insulin and hypertension. A 3.4 × 3.3 cm right adrenal adenoma was identified during abdominal ultrasound imaging for nephrolithiasis. Investigation revealed elevated levels of plasma cortisol, 24 h urinary free cortisol (UFC) and late-night salivary cortisol (LNSC). Serum ACTH levels were not fully suppressed (4 and 5 pmol/L (N: 2-11)). One month post-partum, CS regressed, 24-h UFC had normalised while ACTH levels were now less than 2 pmol/L; however, dexamethasone failed to suppress cortisol levels...
February 7, 2019: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30738016/bifocal-germinoma-in-a-patient-with-16p11-2-microdeletion-syndrome
#3
Mara Ventura, Leonor Gomes, Joana Rosmaninho-Salgado, Luísa Barros, Isabel Paiva, Miguel Melo, Diana Oliveira, Francisco Carrilho
Intracranial germinomas are rare tumors affecting mostly patients at young age. Therefore, molecular data on its etiopathogenesis are scarce. We present a clinical case of a male patient of 25 years with an intracranial germinoma and a 16p11.2 microdeletion. His initial complaints were related to obesity, loss of facial hair and polydipsia. He also had a history of social-interaction difficulties during childhood. His blood tests were consistent with hypogonadotropic hypogonadism and secondary adrenal insufficiency, and he had been previously diagnosed with hypothyroidism...
February 7, 2019: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30703065/managing-thymic-enlargement-in-graves-disease
#4
C Kamath, J Witczak, M A Adlan, L D Premawardhana
Thymic enlargement (TE) in Graves' disease (GD) is often diagnosed incidentally when chest imaging is done for unrelated reasons. This is becoming more common as the frequency of chest imaging increases. There are currently no clear guidelines for managing TE in GD. Subject 1 is a 36-year-old female who presented with weight loss, increased thirst and passage of urine and postural symptoms. Investigations confirmed GD, non-PTH-dependent hypercalcaemia and Addison's disease (AD). CT scans to exclude underlying malignancy showed TE but normal viscera...
January 31, 2019: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30703064/hypercalcitoninaemia-in-pseudohypo-parathyroidism-type-1a-and-type-1b
#5
Maria P Yavropoulou, Efstathios Chronopoulos, George Trovas, Emmanouil Avramidis, Francesca Marta Elli, Giovanna Mantovani, Pantelis Zebekakis, John G Yovos
Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterised by normal renal function and renal resistance to the action of the parathyroid hormone. Type 1A (PHP1A), which is the most common variant, also include developmental and skeletal defects named as Albright hereditary osteodystrophy (AHO). We present two cases, a 54- and a 33-year-old male diagnosed with PHP who were referred to us for persistently high levels of serum calcitonin. AHO and multinodular goitre were present in the 54-year-old male, while the second patient was free of skeletal deformities and his thyroid gland was of normal size and without nodular appearance...
January 31, 2019: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30608898/an-evolving-spectrum-of-diabetes-in-a-woman-with-gck-mody
#6
Aoife Garrahy, Matilde Bettina Mijares Zamuner, Maria M Byrne
Coexistence of autoimmune diabetes and maturity-onset diabetes of the young (MODY) is rare. We report the first case of coexisting latent autoimmune diabetes of adulthood (LADA) and glucokinase (GCK) MODY. A 32-year-old woman was treated with insulin for gestational diabetes at age 32 years; post-partum, her fasting blood glucose was 6.0 mmol/L and 2-h glucose was 11.8 mmol/L following an oral glucose tolerance test, and she was maintained on diet alone. Five years later, a diagnosis of LADA was made when she presented with fasting blood glucose of 20...
January 3, 2019: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30601762/partial-androgen-insensitivity-syndrome-presenting-as-pubertal-gynecomastia-clinical-and-hormonal-findings-and-a-novel-mutation-in-the-androgen-receptor-gene
#7
Priya Vaidyanathan, Paul Kaplowitz
Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1-2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance...
December 28, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30601761/rituximab-treatment-for-isolated-igg4-related-hypophysitis-in-a-teenage-female
#8
Danielle R Bullock, Bradley S Miller, H Brent Clark, Patricia M Hobday
IgG4-related hypophysitis is an important diagnostic consideration in patients with a pituitary mass or pituitary dysfunction and can initially present with headaches, visual field deficits and/or endocrine dysfunction. Isolated IgG4-related pituitary disease is rare, with most cases of IgG4-related disease involving additional organ systems. We report the case of a teenage female patient with isolated IgG4-related hypophysitis, diagnosed after initially presenting with headaches. Our patient had no presenting endocrinologic abnormalities...
December 28, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30532999/a-clinically-functioning-gonadotroph-adenoma-presenting-with-abdominal-pain-ovarian-hyperstimulation-and-fibromatosis
#9
Chloe Broughton, Jane Mears, Adam Williams, Kathryn Lonnen
Pituitary adenomas can be classified as functioning or non-functioning adenomas. Approximately 64% of clinically non-functioning pituitary adenomas are found to be gonadotroph adenomas on immunohistochemistry. There are reported cases of gonadotroph adenomas causing clinical symptoms, but this is unusual. We present the case of a 36-year-old female with abdominal pain. Multiple large ovarian cysts were identified on ultrasound requiring bilateral cystectomy. Despite this, the cysts recurred resulting in further abdominal pain, ovarian torsion and right oophorectomy and salpingectomy...
December 11, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30532998/autoimmune-hypoglycaemia-caused-by-alpha-lipoic-acid-a-rare-condition-in-caucasian-patients
#10
A Veltroni, G Zambon, S Cingarlini, M V Davì
Insulin autoimmune syndrome (IAS), a rare cause of autoimmune hyperinsulinaemic hypoglycaemia, is relatively well known in Japan. The incidence in Caucasians is less than one-fifth of that reported in Japanese people, but it is becoming increasingly recognised worldwide in non-Asians as well. Drugs containing sulphydryl groups are known to be associated with the disease in genetically predisposed individuals. Moreover, several recent reports showed a direct association between the onset of IAS and the consumption of dietary supplements containing alpha-lipoic acid (LA)...
December 11, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30532997/spontaneously-remitting-insulin-autoimmune-syndrome-in-a-patient-taking-alpha-lipoic-acid
#11
D Cappellani, C Sardella, M C Campopiano, A Falorni, P Marchetti, E Macchia
Insulin autoimmune syndrome (IAS), or Hirata disease, is a rare hypoglycaemic disorder caused by the presence of high titer of insulin autoantibodies (IAA) in patients without previous exposure to exogenous insulin. Even though its pathogenesis is not fully understood, striking evidences link IAS to previous exposure to sulphydryl-containing medications, like alpha-lipoic acid, a widely used nutritional supplement. Although challenging, a careful differential diagnosis from other causes of hyperinsulinaemic hypoglycaemia (such as insulinoma) is mandatory, since these conditions require different therapeutic approaches...
December 11, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30530875/identification-of-a-novel-large-casr-deletion-in-a-patient-with-familial-hypocalciuric-hypercalcemia
#12
Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, Luis Castaño
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and 25-hydroxyvitamin D levels...
December 5, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30530874/resistance-to-thyroid-hormone-beta-co-existing-with-partially-empty-sella-in-a-jordanian-male
#13
Ohoud Al Mohareb, Mussa H Al Malki, O Thomas Mueller, Imad Brema
Resistance to thyroid hormone-beta (RTHbeta) is a rare inherited syndrome characterized by variable reduced tissue responsiveness to the intracellular action of triiodothyronine (T3), the active form of the thyroid hormone. The presentation of RTHbeta is quite variable and mutations in the thyroid hormone receptor beta (THR-B) gene have been detected in up to 90% of patients. The proband was a 34-year-old Jordanian male who presented with intermittent palpitations. His thyroid function tests (TFTs) showed a discordant profile with high free T4 (FT4) at 45...
December 5, 2018: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/30481153/utilisation-of-gonadotrophin-releasing-hormone-gnrh-analogue-to-differentiate-ovarian-from-adrenal-hyperandrogenism-in-postmenopausal-women
#14
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://read.qxmd.com/read/30481152/lhx3-deficiency-presenting-in-the-united-states-with-severe-developmental-delay-in-a-child-of-syrian-refugee-parents
#15
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://read.qxmd.com/read/30481151/addison-s-disease-in-antiphospholipid-syndrome-a-rare-complication
#16
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://read.qxmd.com/read/30475216/honey-dressing-on-a-leg-ulcer-with-tendon-exposure-in-a-patient-with-type-2-diabetes
#17
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://read.qxmd.com/read/30427165/an-unusual-presentation-of-post-gastric-bypass-hypoglycemia-with-both-postprandial-and-fasting-hypoglycemia
#18
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://read.qxmd.com/read/30427164/diabetic-ketoacidosis-following-peg-asparaginase-therapy
#19
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://read.qxmd.com/read/30422607/acute-milk-alkali-syndrome
#20
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
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