Patient Demographics
Search for other papers by Jay Nguyen in
Google Scholar
PubMed
Search for other papers by Dennis Joseph in
Google Scholar
PubMed
Summary
Increased intracranial pressure (ICP) can present with symptoms of headache, vomiting, visual changes, and tinnitus. Papilledema may be seen on physical exam. Thyroid disease has been a rare secondary cause of increased ICP. We present a 16-year-old female who had a worsening headache for 6 months. She was found to have signs, symptoms, physical exam findings, and diagnostic studies consistent with both increased ICP and previously undiagnosed Graves’ disease. The patient was treated with a 19-month course of methimazole 40 mg daily. Her headache and papilledema resolved shortly after medication initiation. The timeline of symptoms and resolution of her increased ICP symptoms with treatment of Graves’ disease suggests that hyperthyroidism was the underlying cause of her increased ICP. Clinicians should consider Graves’ disease as the etiology in pediatric patients presenting with signs and symptoms of increased ICP with papilledema.
Learning points
-
Symptoms of increased intracranial pressure (ICP) include headache, vomiting, transient visual changes, and tinnitus.
-
Secondary causes of increased ICP should be considered in males, young children, older patients, and those not overweight.
-
Clinicians should consider Graves’ disease as the etiology in pediatric patients presenting with signs and symptoms of increased ICP with papilledema. They should assess for orbitopathy and thyromegaly and inquire about symptoms that would be indicative of hyperthyroidism.
Search for other papers by Jay Nguyen in
Google Scholar
PubMed
Search for other papers by Dennis Joseph in
Google Scholar
PubMed
Summary
Autonomous thyroid adenomas are caused by activating mutations in the genes encoding the thyroid-stimulating hormone receptor (TSHR) or mutations in the Gas subunit of the TSHR. Nodules with suspicious sonographic features should be submitted to fine-needle aspiration. Additional molecular testing may be performed to characterize the thyroid nodule’s malignant potential further. We present a patient who underwent whole-transcriptome RNA-sequencing that indicated a TSHR I568T mutation after an ultrasound showed suspicious sonographic features and fine-needle aspiration was ‘suspicious for malignancy’. The patient underwent thyroid resection and was found to have a locally invasive classical papillary thyroid carcinoma. Most reports of TSHR I568T mutation have been seen in patients with benign thyroid conditions. While there is insufficient data to suggest that the TSHR I568T mutation causes aggressive thyroid malignancy, we believe clinicians who identify the presence of this mutation on genome sequencing should be cautious about the possibility of locally invasive thyroid malignancy, especially when associated with Bethesda V cytopathology.
Learning points
-
Germline and somatic activating mutations in the genes coding for the thyroid-stimulating hormone receptor (TSHR) have been frequently reported in familial and sporadic autonomous thyroid adenomas and non-autoimmune hyperthyroidism.
-
Most reports of TSHR I568T mutation have been detected in patients with benign thyroid conditions.
-
We present a patient who underwent whole-transcriptome RNA-sequencing that indicated a TSHR I568T mutation and subsequently underwent thyroid resection and was found to have a locally invasive classical papillary thyroid carcinoma.
-
Clinicians who identify the presence of TSHR I568T mutation on genome sequencing should be cautious about the possibility of locally invasive thyroid malignancy, especially when associated with Bethesda V cytopathology.
Banner University Medical Center – Phoenix, Phoenix, Arizona, USA
Search for other papers by Anand Gandhi in
Google Scholar
PubMed
Division of Endocrinology, Diabetes and Metabolism, University of Arizona College of Medicine – Phoenix, Phoenix, Arizona, USA
Carl T Hayden Phoenix VA Medical Center, Phoenix, Arizona, USA
Search for other papers by Mike Mortensen in
Google Scholar
PubMed
Division of Endocrinology, Diabetes and Metabolism, University of Arizona College of Medicine – Phoenix, Phoenix, Arizona, USA
Carl T Hayden Phoenix VA Medical Center, Phoenix, Arizona, USA
Search for other papers by Sonie Sunny in
Google Scholar
PubMed
Division of Endocrinology, Diabetes and Metabolism, University of Arizona College of Medicine – Phoenix, Phoenix, Arizona, USA
Carl T Hayden Phoenix VA Medical Center, Phoenix, Arizona, USA
Search for other papers by Pawarid Techathaveewat in
Google Scholar
PubMed
Search for other papers by Jerome Targovnik in
Google Scholar
PubMed
Division of Endocrinology, Diabetes and Metabolism, University of Arizona College of Medicine – Phoenix, Phoenix, Arizona, USA
Search for other papers by Mahmoud Alsayed in
Google Scholar
PubMed
Summary
Immobilization-induced hypercalcemia is an uncommon cause of elevated calcium which is usually diagnosed following extensive systemic workup and exclusion of more common etiologies. Previously reported cases have largely described this phenomenon in adolescents and young adults a few weeks to months after the initial onset of immobilization. Metabolic workup tends to demonstrate hypercalcemia, hypercalciuria, and eventual osteoporosis. While the exact mechanism remains largely unclear, a dysregulation between bone resorption and formation is central to the pathogenesis of this disease. Decreased mechanical loading from prolonged bedrest tends to increase osteoclast induced bone resorption while promoting osteocytes to secrete proteins such as sclerostin to reduce osteoblast mediated bone formation. We describe the case of an 18-year-old male who was admitted following intraabdominal trauma. He underwent extensive abdominal surgery including nephrectomy resulting in initiation of dialysis. After 6 months of hospitalization, the patient gradually began developing uptrending calcium levels. Imaging and laboratory workup were unremarkable for any PTH-mediated process, malignancy, thyroid disorder, adrenal disorder, or infection. Workup did reveal significant elevated bone turnover markers which in combination with the clinical history led the physicians to arrive at the diagnosis of immobilization induced hypercalcemia. In order to prevent decreased rates of bone loss, the patient was administered denosumab for treatment. Hypocalcemia followed treatment expectedly and was repleted with supplementation via the patient’s total parenteral nutrition.
Learning points
-
Immobilization-induced hypercalcemia should remain as a differential diagnosis of patients with prolonged hospitalizations with hypercalcemia.
-
Extensive workup of common etiologies of hypercalcemia should be considered prior to arriving at this diagnosis.
-
Denosumab, while off-label for this usage, offers an effective treatment option for immobilization-induced hypercalcemia though it carries a risk of hypocalcemia especially among patients with renal disease.
Search for other papers by Gueorgui Dubrocq in
Google Scholar
PubMed
Search for other papers by Andrea Estrada in
Google Scholar
PubMed
Search for other papers by Shannon Kelly in
Google Scholar
PubMed
Elizabeth Glaser Pediatric AIDS Foundation, Washington, District of Columbia, USA
Search for other papers by Natella Rakhmanina in
Google Scholar
PubMed
Summary
An 11-year-old male with perinatally acquired human immune deficiency virus (HIV) infection on antiretroviral regimen, which included abacavir plus lamivudine (Epzicom), didanosine, ritonavir and atazanavir presented with bilateral axillary striae, increased appetite, fatigue, facial swelling and acute weight gain. Two months prior to presentation, the patient had received a diagnostic and therapeutic intra-articular triamcinolone injection in the knee for pain relief and subsequently became progressively swollen in the face, developed striae bilaterally at the axillae, experienced increased appetite, fatigue and an 8 pound weight gain. During the endocrine workup, suspicion for adrenal insufficiency prompted 24-h urine collection for free cortisol, which was found to be undetectable (below LLQ of 1.0 µg/L). This prompted further evaluation of the hypothalamic–pituitary axis (HPA) by standard dose adrenocorticotropic hormone (ACTH) stimulation test. A 250 µg cosyntropin stimulation test was performed and confirmed HPA axis suppression. Baseline cortisol level was <1 µg/dL and stimulated cortisol level at 30 min was 3.8 µg/dL. The patient was diagnosed with iatrogenic Cushing syndrome and suppression of HPA axis secondary to the drug interaction between ritonavir (RTV) and intra-articular triamcinolone injection. Following endocrine evaluation and workup, the patient was admitted for planned orthopaedic procedure including elective left hamstring lengthening, distal femoral osteotomy and patellar tendon advancement. Taking into consideration the diagnosis of iatrogenic Cushing syndrome, at the start of the surgical procedure, 100 mg IV stress dose of hydrocortisone followed by 50 mg hydrocortisone every 8 h for 24 h was administered. Stress dosing was discontinued 24 h after the procedure. Throughout the hospitalization and upon discharge, the patient continued his ART. From initial presentation, patient has remained clinically stable throughout surgery and postoperative period.
Learning points:
-
Drug–drug interaction between ritonavir and triamcinolone can cause Cushing syndrome.
-
Although triamcinolone has a half-life of 3 h, an intra-articular injection may be systematically absorbed for 3 weeks after injection, and adrenal suppression may last as long as 30 days.
-
Co-administration of ritonavir and corticosteroids may result in an increase of plasma levels of corticosteroids levels, as they are both eliminated by CYP3A metabolism, and this interaction has the potential to prolong the half-life of triamcinolone several fold.
-
No specific guidelines are available for the management of iatrogenic Cushing syndrome secondary to ritonavir and corticosteroids.
-
One treatment option includes replacing ritonavir with a non-protease inhibitor-based regimen.
-
Initiating hydrocortisone replacement therapy to prevent an adrenal crisis is also an alternate option.
Search for other papers by Vivienne Yoon in
Google Scholar
PubMed
Search for other papers by Aliya Heyliger in
Google Scholar
PubMed
Search for other papers by Takashi Maekawa in
Google Scholar
PubMed
Search for other papers by Hironobu Sasano in
Google Scholar
PubMed
Search for other papers by Kelley Carrick in
Google Scholar
PubMed
Search for other papers by Stacey Woodruff in
Google Scholar
PubMed
Search for other papers by Jennifer Rabaglia in
Google Scholar
PubMed
Search for other papers by Richard J Auchus in
Google Scholar
PubMed
Search for other papers by Hans K Ghayee in
Google Scholar
PubMed
Summary
Objective: To recognize that benign adrenal adenomas can co-secrete excess aldosterone and cortisol, which can change clinical management.
Methods: We reviewed the clinical and histological features of an adrenal tumor co-secreting aldosterone and cortisol in a patient. Biochemical testing as well as postoperative immunohistochemistry was carried out on tissue samples for assessing enzymes involved in steroidogenesis.
Results: A patient presented with hypertension, hypokalemia, and symptoms related to hypercortisolism. The case demonstrated suppressed renin concentrations with an elevated aldosterone:renin ratio, abnormal dexamethasone suppression test results, and elevated midnight salivary cortisol concentrations. The patient had a right adrenal nodule with autonomous cortisol production and interval growth. Right adrenalectomy was carried out. Postoperatively, the patient tolerated the surgery, but he was placed on a short course of steroid replacement given a subnormal postoperative serum cortisol concentration. Long-term follow-up of the patient showed that his blood pressure and glucose levels had improved. Histopathology slides showed positive staining for 3β-hydroxysteroid dehydrogenase, 11β-hydroxylase, and 21 hydroxylase.
Conclusion: In addition to the clinical manifestations and laboratory values, the presence of these enzymes in this type of tumor provides support that the tumor in this patient was able to produce mineralocorticoids and glucocorticoids. The recognition of patients with a tumor that is co-secreting aldosterone and cortisol can affect decisions to treat with glucocorticoids perioperatively to avoid adrenal crisis.
Learning points
-
Recognition of the presence of adrenal adenomas co-secreting mineralocorticoids and glucocorticoids.
-
Consideration for perioperative and postoperative glucocorticoid use in the treatment of co-secreting adrenal adenomas.
