Osteopetrosis and Congenital Hypothyroidism Complicated by Slipped Capital Femoral Epiphysis

ObjectiveTo describe a 13-year-old girl with unilateral slipped capital femoral epiphysis (SCFE), who presented with an acute onset limp during follow-up for congenital hypothyroidism and osteopetrosis.MethodsWe present a case report detailing the patient’s history as well as clinical, laboratory, and imaging findings and discuss the related literature.ResultsThe patient had been diagnosed elsewhere with congenital hypothyroidism, and levothyroxine therapy was initiated when she was 20 days of age; however, adherence to the treatment was irregular. Both her weight and her height were below the 5th percentile, her breast development and pubic hair were consistent with Tanner stage 1, and she had mental retardation and atypical facies. Her gait was antalgic; no muscle atrophy or shortness in the affected leg was present. On laboratory investigation, thyroid function tests were concordant with primary hypothyroidism. Her bone age was estimated as 8 years. Dual-energy x-ray absorptiometry revealed increased bone mineral density. Radiographic studies disclosed striking opacity of the bones of the pelvis and sclerosis at the skull base. Computed tomography of the affected left lower limb showed a fragmented appearance of the capital femoral epiphysis and thickening and irregularities of the physis line on the left, consistent with SCFE.ConclusionWe underscore the possible facilitator role of osteopetrosis in the pathogenesis of SCFE, suggest the need to consider SCFE in the differential diagnosis when a lower extremity abnormality is detected in patients with congenital hypothyroidism or delayed puberty (or both), and emphasize this association with osteopetrosis.(Endocr Pract. 2010;16:646-649)     

Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Coproporphyria: Case Report and Review of Literature

ObjectiveTo remind physicians to consider the hepatic porphyrias in the differential diagnosis of the syndrome of inappropriate antidiuretic hormone secretion.MethodsWe present a case report of a patient seen in the hospital for severe hyponatremia, who was discovered to have the syndrome of inappropriate antidiuretic hormone secretion attributable to coproporphyria. Results of laboratory tests of the patient and her family are presented.ResultsA 54-year-old woman was seen in the hospital because of severe hyponatremia accompanied by generalized seizures. Her serum sodium concentration was 112 mEq/L, with concomitant serum and urine osmolalities of 235 and 639 mOsm/kg, respectively. Renal, thyroid, and adrenal functions were normal. Brain, chest, abdominal, and pelvic imaging studies were negative for occult malignant disease. Urinary excretions of porphobilinogen and aminolevulinic acid were substantially elevated. Results of follow-up urine, plasma, and fecal porphyrin studies were consistent with coproporphyria. Results of porphyrin metabolic studies of the patient’s family showed normal findings in her parents and a minimally increased fecal coproporphyrin concentration and urinary uroporphyrin excretion in her sister.ConclusionAn endocrinology consultation is often requested for patients with hyponatremia. It is important to consider the acute hepatic porphyrias in the differential diagnosis, even though these are rare disorders and the family history may not always be helpful because of the high frequency of asymptomatic carriers. (Endocr Pract. 2007;13:164-168)     

Does evaluation of the ligamentous compartment enhance diagnostic utility of sacroiliac joint MRI in axial spondyloarthritis?

IntroductionInflammation of the sacroiliac joints (SIJ) is a fundamental clinical feature of axial spondyloarthritis (SpA). The anatomy of the irregularly shaped SIJ is complex with an antero-inferior cartilaginous compartment containing central hyaline and peripheral fibrocartilage, and a dorso-superior ligamentous compartment. Several scoring modules to systematically assess SIJ magnetic resonance imaging (MRI) in SpA have been developed. Nearly all of them are based on the cartilaginous joint compartment alone. However, there are only limited data about the frequency of inflammatory lesions in the ligamentous compartment and their potential diagnostic utility in axial SpA. We therefore aimed to evaluate the ligamentous compartment on sacroiliac joint MRI for lesion distribution and potential incremental value towards diagnosis of SpA over and above the traditional assessment of the cartilaginous compartment alone.MethodsTwo independent cohorts of 69 and 88 consecutive back pain patients ≤50 years were referred for suspected SpA (cohort A) or acute anterior uveitis plus back pain (cohort B). Patients were classified according to rheumatologist expert opinion based on clinical, radiographic and laboratory examination as having nonradiographic axial SpA (nr-axSpA; n = 51), ankylosing spondylitis (n = 34), or nonspecific back pain (NSBP; n = 72). Five blinded readers assessed SIJ MRI globally for presence/absence of SpA. Bone marrow edema (BME) and fat metaplasia were recorded in the cartilaginous and ligamentous compartment. The incremental value of evaluating the ligamentous additionally to the cartilaginous compartment alone for diagnosis of SpA was graded qualitatively. We determined the lesion distribution between the two compartments, and the impact of the ligamentous compartment evaluation on diagnostic utility.ResultsMRI bone marrow lesions solely in the ligamentous compartment in the absence of lesions in the cartilaginous compartment were reported in just 0–2.0/0–4.0 % (BME/fat metaplasia) of all subjects. Additional assessment of the ligamentous compartment was regarded as essential for diagnosis in 0 and 0.6 %, and as contributory in 28.0 and 7.7 % of nr-axSpA patients in cohorts A and B, respectively. Concomitant BME in both compartments was evident in 11.6–42.0 % of nr-axSpA and 2.1–2.4 % of NSBP patients.ConclusionAssessing the ligamentous compartment on SIJ MRI provided no incremental value for diagnosis of axial SpA. However, concomitant BME in both compartments may help discriminate nr-axSpA from NSBP.     

Visual Vignette

Case presentation: A 32-year-old female presented with left hip pain and decreased mobility of 6 months’ duration. There was no history of associated trauma or muscle weakness. Clinical examination revealed tenderness and limitation of movements at the left hip. Blood biochemistry was normal except for an elevated alkaline phosphatase (212 IU/L, normal: 40-125). We performed pelvic X-ray (Fig. 1) and a technetium medronic acid bone scan (Fig. 2).     

Bilateral Ovary Adrenal Rest Tumor in a Congenital Adrenal Hyperplasia Following Adrenalectomy

Objective:In contrast to the high incidence of testicular adrenal rest tumors in adult male patients with congenital adrenal hyperplasia (CAH), ovarian adrenal rest tumors (OARTs) in female CAH patients are rare. In this case report, we describe a case of bilateral OART in a female patient with CAH due to 21-hydroxylase deficiency.Methods:We present a detailed case report with the clinical, imaging, and laboratory findings of the patient. The pertinent literature is also reviewed.Results:A 17-year-old patient was known to have CAH due to 21-hydroxylase deficiency. Since the second month of her gestational age, her mother was treated with cortisone-replacement therapy. The patient was treated with hydrocortisone and fludrocortisone since the neonatal period. Her pertinent history included a bilateral adrenalectomy at the age of 13 years in 2006, and for 3 years she led a normal puberty life with no complaint with hormonal replacement therapy. Nevertheless, in 2009, she developed a virilizing syndrome. Subsequently, she underwent surgery in December 2009 for right adnexectomy. However, the regression of the masculinizing mass was not complete and worsened several months after the surgery. A new pelvic magnetic resonance image showed the activation of a contralateral ovarian mass, necessitating a left adnexectomy in August 2010.Conclusion:This case demonstrates some interesting features of OART that pose challenges to its management. If an OART is detected early enough and glucocorticoid therapy is received, it is possible that the OART will decrease in size following suppression of adrenocorticotropic hormone levels. (Endocr Pract. 2014;20:e69-e74)     

A Case of an Unusual Subtrochanteric Fracture in a Patient Receiving Denosumab

ObjectiveBisphosphonates are the most common class of medications used to treat osteoporosis. Their widespread use has uncovered rare complications, including atypical femoral fractures (AFF). The pathogenesis of AFF is incompletely understood; however, if oversuppression of bone remodeling contributes to AFF, it is plausible that other potent antiresorptive agents, such as denosumab, could be associated with AFF as well.MethodsWe report a case of an 81-year-old woman with densitometric osteopenia, chronic kidney disease, and hyperparathyroidism, who was initiated on denosumab for elevated fracture risk. Approximately 6 months after her initial denosumab injection, she developed severe right groin and thigh pain without prior trauma.ResultsA femoral radiograph was normal, without cortical thickening, but a magnetic resonance imaging revealed a transverse subtrochanteric insufficiency fracture with a medial defect involving 25% of the femoral cortex. She did not receive any further doses of denosumab. Bone turnover markers did not suggest oversuppression. Her fracture was treated conservatively with nonweight bearing status with resultant full recovery.ConclusionThis fracture does not meet the current definition of an AFF as, for that definition, a lateral femoral location is required. This case does not provide conclusive evidence for a causal relationship between treatment with denosumab and this unusual fracture. It clearly illustrates, however, the occurrence of an unusual, nontraumatic subtrochanteric fracture in a patient treated with the potent antiresorptive agent denosumab with many features in common with bisphosphonate-associated AFF. (Endocr. Pract. 2013;19:e64-e68)     

Hyperparathyroid Crisis Due to Asymmetric Parathyroid Hyperplasia with A Massive Ectopic Parathyroid Gland

ObjectiveTo report a rare case of primary hyperparathyroidism presenting with hyper-parathyroid crisis due to parathyroid hyperplasia with ectopic glands.MethodsWe present the initial clinical manifestations, laboratory results, radiologic and surgical findings, and management in a patient who had hyper-parathyroid crisis. The pertinent literature and management options are also reviewed.ResultsA 60-year-old female presented with hyper-parathyroid crisis requiring preoperative stabilization with rehydration, diuresis, bisphosphonate therapy, and ultimately hemodialysis. Parathyroidectomy revealed asymmetric 4-gland hyperplasia, with a massive ectopic parathyroid gland in the tracheoesophageal groove extending into the mediastinum. Her postoperative course was complicated by hungry bone syndrome and hypocalcemia.ConclusionThis case illustrates the rare occurrence of hyper-parathyroid crises due to asymmetric parathyroid hyperplasia with a massive ectopic parathyroid gland. (Endocr Pract. 2014;20:e180-e182)     

Hypercalcemia and Acromegaly-Clarifying the Connections: A Case Report and Review of the Literature

ObjectiveHypercalcemia in patients with acromegaly is rare and usually due to co-existent primary hyperparathyroidism. The etiology of hypercalcemia directly related to acromegaly is debated.MethodsWe present a case report of 1,25(OH)2D3-mediated hypercalcemia in a patient with acromegaly and discuss potential pathophysiological mechanisms contributing to the development of hypercalcemia late in the course of the disease.ResultsA 67-year-old female presented with classical features of acromegaly. A review of her previous photographs suggested a disease duration of approximately 10 years, and her serum calcium (Ca) was normal during this period. A biochemical work up confirmed a combined growth hormone (GH-) and prolactin (PRL-) cosecreting tumor with a GH level of 92.03 ng/mL (normal 0-3.61), an insulin-like growth factor-1 (IGF-1) level of 1,498 ng/ mL (59-225), and a PRL level of 223.3 ng/mL (2-17.4). Magnetic resonance imaging (MRI) of the pituitary showed a 1.9-cm macroadenoma. Her preoperative work up revealed new onset hypercalcemia with a corrected serum Ca level of 10.7 mg/dL (8.5-10.5), an ionized Ca level of 1.37 mmol/L (1.08-1.30), a parathyroid hormone (PTH) level of 13.0 pg/mL (10-60), and a high 1,25(OH)2D3 level of 72.6 pg/mL (15-60). She underwent resection of the pituitary adenoma with normalization of GH and PRL levels, and her IGF-1 level decreased to 304 ng/mL. Her serum Ca (9.3 mg/dL), ionized Ca(1.22) and 1,25(OH)2D3 levels (38.6 pg/mL) normalized after surgery.ConclusionWhile overt hypercalcemia in acromegaly is rare, it tends to occur late in the disease course. The hypercalcemia is mediated by elevated 1,25(OH)2D3 levels rather than PTH. (Endocr Pract. 2014;20:e86-e90)     

Precocious Puberty Due to Rathke Cleft Cyst in a Child

ObjectiveTo report a case of a child with precocious puberty attributable to Rathke cleft cyst (RCC).MethodsThe clinical features, laboratory results, and findings on ultrasonography of the pelvis and magnetic resonance imaging of the pituitary gland are presented.ResultsA 16-month-old child had breast enlargement, height increase, and an increase in growth velocity. On examination, she was found to have Tanner stage 3 breast development, and her vaginal mucosa was estrogenized. Her height was above the 97th percentile. Biochemically, she was diagnosed as having central precocious puberty, and magnetic resonance imaging of her pituitary gland disclosed RCC. Treatment with leuprolide resulted in normalization of her growth rate and regression of the breast development; the vaginal mucosa also became unestrogenized.ConclusionAlthough RCC is a relatively common finding, it is a rare cause of precocious puberty. Magnetic resonance imaging of the pituitary gland should be performed in all children younger than 6 years of age who have precocious puberty, in an effort to detect any organic lesions. (Endocr Pract. 2009;15:134-137)     

Atypical Diabetes Mellitus Associated with Bone Marrow Transplantation

ObjectiveTo describe 3 cases of atypical diabetes mellitus following bone marrow transplantation.MethodsWe describe the clinical presentation and relevant laboratory findings of 3 patients who presented with new-onset diabetes mellitus after bone marrow transplantation and discuss the possible mechanisms.ResultsA 52-year-old white man with chronic myelogenous leukemia, a 51-year-old white woman with acute myelogenous leukemia, and a 38-year-old Hispanic woman with acute myelogenous leukemia presented with acute onset of diabetes mellitus after bone marrow transplantation. Although blood glucose levels were initially very high, the patients required only small insulin dosages for glycemic control. Both the acute onset and requirement of relatively small insulin dosages were characteristic of type 1 diabetes mellitus. Onset of diabetes appeared to be unrelated to immunosuppressive drug therapy because it happened several months after starting these drugs. C-peptide was detectable, and glutamic acid decarboxylase antibodies were absent. Diabetes mellitus remitted spontaneously after a few months while the immunosuppressive drugs were continued.ConclusionAlthough the underlying mechanisms are unknown, cytokine changes after bone marrow transplantation may have led to temporary b-cell dysfunction in these patients. (Endocr Pract. 2010;16:93-96)     

Medullary Thyroid Carcinoma Manifesting as an Ovarian Mass: Case Report and Review of Literature

ObjectiveTo report the uncommon case of a woman with abdominal pain and a complex adnexal mass, who was subsequently found to have medullary thyroid carcinoma (MTC) metastatic to the ovary.MethodsWe present the clinical history, physical findings, laboratory and imaging studies, and pathologic findings in a woman with metastatic MTC and locally aggressive disease. The genetic associations, variable clinical course, and histopathologic findings in MTC are reviewed.ResultsA 38-year-old woman with abdominal and pelvic pain underwent a computed tomographic scan of the abdomen, which showed a complex left adnexal mass. After laparoscopic left oophorectomy, histopathologic analysis of the resected ovary suggested the presence of a metastatic neuroendocrine tumor. The patient recovered but was referred to the surgery clinic 3 months later because of hoarseness, a left neck mass, and left-sided vocal cord paralysis. Further work-up was suggestive of MTC, which prompted RET testing for multiple endocrine neoplasia. The patient underwent left thyroid lobectomy and selective lymph node dissection but later required tracheostomy because of tumoral invasion of the trachea, laser debulking of the tumor, and external beam radiation therapy. One year postoperatively, development of a metastatic lesion in her right ovary necessitated a second oophorectomy.ConclusionMTC usually manifests as a solitary thyroid nodule but should be considered in patients with metastatic lesions characterized by neuroendocrine features. This unusual case highlights the biologic and clinical variability of this often aggressive thyroid cancer, which necessitates an attentive work-up, a rigorous operative strategy, and a periodic postoperative surveillance program. (Endocr Pract. 2008;14:351-357)     

Subungual Exostosis in an Osteoporotic Patient Treated with Teriparatide

ObjectiveTo report an unusual case of subungual exostosis in a patient on teriparatide.MethodsWe describe the presentation and symptoms of the patient and review of the relevant literature.ResultsTeriparatide is used for the treatment of osteoporosis. Rat studies using 3-60x the approved human dose have shown an association between teriparatide and an increased risk of osteosarcoma. Subungual exostosis, to our knowledge, has not been reported. We report the case of a 54-year-old female who presented with a 4-month history of pain and swelling in the medial side of her right thumb with no preceding trauma. The patient had history of severe osteoporosis with multiple fractures and was on teriparatide for 16 months. On examination, the right thumb was swollen and tender with no superficial erythema or signs of an infection. X-ray imaging revealed a trabecular bony overgrowth consistent with subungual exostosis. The patient was treated with subungual excision. Pathology showed endochondral bone formation with reactive atypia, consistent with osteocartilaginous exostosis.ConclusionTo our knowledge, this is the first case hypothesizing an association between teriparatide and subungual exostosis. Subungual exostosis is a benign growth of bone that arises in the distal phalanx, under or adjacent to the nail bed. The pathophysiology is not clearly understood, but the lesion has base of trabecular bone with a proliferating fibrocartilaginous cap. Teriparatide can stimulate the trabecular bone formation. Hence, an association between the use of teriparatide and the development of subungal exostosis cannot be excluded. Further studies delineating this relationship are needed. (Endocr. Pract. 2013;19:e115-e117)     

A Case of Hypercalcemia Associated with Castleman Disease

ObjectiveTo present a case of hypercalcemia associated with Castleman disease.MethodsThe details of case presentation, evaluation, diagnosis, and treatment are reviewed in a 25-year-old woman with severe hypercalcemia, joint pain, conjunctival injection, and lymphadenopathy.ResultsEndocrinopathies such as primary hyperparathyroidism were ruled out. Infectious and rheumatologic laboratory evaluations revealed normal results. On a whole-body scan, the patient was noted to have diffusely increased osseous uptake in conjunction with increased periarticular uptake, consistent with a metabolic superscan. After extensive evaluation, the patient underwent a right axillary lymph node biopsy and was found to have multicentric Castleman disease. She was treated with high-dose corticosteroids and eventually immunomodulators to help control her disease.ConclusionTo the best of our knowledge, this is the first published case report demonstrating hypercalcemia in association with Castleman disease. The pathologic mechanism is likely bone turnover mediated by cytokines such as interleukin-6. (Endocr Pract. 2010;16:1007-1011)     

A Case of Gestational Thyrotoxicosis Associated With Wernicke’s Encephalopathy

ObjectiveTo present a case of gestational thyrotoxicosis and hyperemesis gravidarum associated with Wernicke’s encephalopathy.MethodsWe present a detailed case report with the clinical, imaging, and laboratory findings of the patient and review the pertinent literature.ResultsA 36-year-old woman at 14 weeks of gestation was admitted to the hospital for management of severe hyperemesis gravidarum (HG). While hospitalized, she developed low-grade fever, tachycardia, hypotension, and altered mentation. Laboratory tests were diagnostic of hyperthyroidism. Physical examination revealed a confused, lethargic woman with a normal-size thyroid and pendular nystagmus in primary and lateral gaze. She was treated empirically for thyroid storm with methimazole and other measures. A brain magnetic resonance imaging (MRI) study done later showed hyperintense abnormal signals in bilateral thalamic regions, consistent with Wernicke’s encephalopathy (WE). She was immediately started on intravenous thiamine and her mental status improved considerably within 3 to 4 days. Within 2 weeks, the patient’s thyroid-function tests normalized and methimazole was discontinued. A repeat brain MRI 6 months later showed marked reduction of signal intensity in both thalamic regions.ConclusionThis case demonstrates that gestational thyrotoxicosis in a patient with HG can precipitate acute WE, which may mimic thyroid storm and thus delay appropriate management of this neurologic disorder. We conclude that prophylactic thiamine administration may be considered before caloric replacement in patients who present with HG and acute neurologic dysfunction. (Endocr Pract. 2014;20:e237-e240)     

Plurihormonal Pituitary Adenoma Immunoreactive for Thyroid-Stimulating Hormone,Growth Hormone,Follicle-Stimulating Hormone,and Prolactin

ObjectiveTo describe the case of a patient with an unusual plurihormonal pituitary adenoma with immunoreactivity for thyroid-stimulating hormone (TSH), growth hormone, follicle-stimulating hormone, prolactin, an α-subunit.MethodsWe report the clinical, laboratory, imaging, and pathology findings of a patient symptomatic from a plurihormonal pituitary adenoma and describe her outcome after surgical treatment.ResultsA 60-year-old woman presented to the emergency department with headaches, blurry vision, fatigue, palpitations, sweaty hands, and weight loss. Her medical history was notable for hyperthyroidism, treated intermit with methimazole. Magnetic resonance imaging disclosed a pituitary macroadenoma (2.3 by 2.2 by 2.0 cm), and preoperative blood studies revealed elevated levels of TSH at 6.11 mIU/L, free thyroxine at 3.6 ng/dL, and free triiodothyronine at 6.0 pg/mL. She underwent an uncomplicated transsphenoidal resection of the pituitary adenoma. Immunostaining of tumor tissue demonstrated positivity for not only TSH but also growth hormone, follicle-stimulating hormone, prolactin, and α-subunit. The Ki-67 index of the tumor was estimated at 2% to 5%, and DNA repair enzyme O6-methylguanine-DNA methyltransferase immunostaining was mostly negative. Electron microscopy showed the ultrastructural phenotype of a glycoprotein-producing adenoma. Postoperatively, her symptoms and hyperthyroidism resolved.ConclusionThyrotropin-secreting pituitary adenomas are rare. Furthermore, recent reports suggest that 31% to 36% of adenomas may show evidence of secretion of multiple pituitary hormones. This case emphasizes the importance of considering pituitary causes of thyrotoxicosis and summarizes the clinical and pathology findings in a patient with a plurihormonal pituitary adenoma. (Endocr Pract. 2012;18:e121-e126)     

High Bone Mass Associated with Berardinelli Lipodystrophy

ObjectiveTo describe an unusual case of Berardinelli-Seip syndrome with high bone mineral density (BMD).MethodsWe report the case of a 16-year-old girl presenting with dehydration, fatigue, and myalgia, associated with severe hyperglycemia, hypernatremia, and dramatically increased levels of liver enzymes, lactate dehydrogenase, and creatine kinase in the absence of ketosis. The clinical findings and pertinent medical literature are reviewed.ResultsPhysical examination of the patient revealed an acromegalic appearance with enlarged hands and feet, absence of subcutaneous adipose tissue, acanthosis nigri-cans, and a prominent umbilicus. Clinical and laboratory findings improved during her hospitalization, but more than 200 U of insulin daily was needed to control her plasma glucose levels. Although the fasting C-peptide level was normal, the postprandial value (10.10 ng/mL) was twice as high as the upper limit of normal (1.1 to 5). The liver enzymes did not normalize. Tests for hepatitis A and C as well as hepatitis B surface antigen were negative, and her specific antibody to hepatitis B surface antigen was positive, although she had been vaccinated. She had a high triglyceride level (392 mg/dL). Ultrasonography and magnetic resonance imaging (MRI) of the abdomen revealed an enlarged fatty liver and absence of visceral fat. Cranial MRI showed normal findings. The growth hormone level was low at baseline (0.27 ng/mL) and 0.57 ng/mL after administration of bromocriptine. Serum insulinlike growth factor-I was 606.8 ng/mL. These findings ruled out the diagnosis of acromegaly. The phenotypic and laboratory findings indicated that this patient had Berardinelli-Seip syndrome or type 1 lipodystrophy. MRI evaluation of body composition revealed total absence of adipose tissue. Lumbar spine and femoral neck densitometry as well as whole-body densitometry disclosed elevated BMD compared with reference values and a low percentage of fat. Despite the high BMD, the 25-hydroxyvitamin D level was diminished (5.6 ng/mL).ConclusionHyperinsulinemia could explain the high BMD through insulin-stimulating effects on osteoblast proliferation and increasing liver production of insulinlike growth factor-I, but further studies are needed to evaluate the actual mechanism and others factors influencing BMD in Berardinelli-Seip syndrome. (Endocr Pract. 2007;13: 764-769)     

Endocrine Dysfunction in A Patient with Phace Syndrome,Including Port-Wine Stain of the Right Periorbital Area

ObjectiveTo report a case of PHACE syndrome— Posterior fossa brain abnormalities, Hemangioma (usually facial), Arterial anomalies, Coarctation of the aorta along with cardiac defects, and Eye abnormalities—in a 16-yearold female patient with a port-wine stain of the right periorbital area present since birth in conjunction with hypoplasia of the contralateral internal carotid artery.MethodsThyroid-stimulating hormone, free thyroxine, and growth hormone (GH) levels were measured, and insulin-induced hypoglycemia and arginine infusion tests were done. Radiologic investigations included sagittal enhanced T1-weighted magnetic resonance imaging of the brain and the pituitary gland as well as computed tomography and magnetic resonance angiography of the head and neck.ResultsThe patient had a normal karyotype. Her height and weight were below the 5th percentile for her chronologic age, and she had amenorrhea. Laboratory investigations revealed both thyroid and GH deficiencies and confirmed the diagnosis of hypogonadotropic hypogonadism. The imaging studies showed a right intraorbital hemangioma as well as an enhancing mass in the right internal auditory canal at the cerebellopontine angle, consistent with a posterior fossa hemangioma. Initiation of both thyroid and GH replacement therapy improved her growth rate and yielded a good clinical outcome.ConclusionIn patients with facial or neck hemangiomas, PHACE syndrome should be suspected, and brain imaging and cardiac, ophthalmologic, and endocrinologic evaluations are recommended to screen for other potential PHACE abnormalities. (Endocr Pract. 2010;16:255-259)     

Increased Chromogranin a and Carcinoid Syndrome-Like Symptons in a Patient Treated with Duloxetine

ObjectiveWe report the case of a 50-year-old female patient who presented with symptoms suggestive of a serotonin- secreting neuroendocrine neoplasm. In addition, her serum chromogranin A (CA) level was elevated by more than 8-fold.MethodsWe present a case report with review of the relevant literature.ResultsNo abnormalities could be detected in a complete conventional and functional morphological diagnostic work-up including a gallium-68-DOTA-D-Phe1-Tyr3-octreotide (Ga-68-DOTATOC) positron emission tomography-computed tomography (PET-CT) scan. These negative results prompted us to consider possible drug-related effects as the cause for these findings. The patient had started to take duloxetine, a second-generation antidepressant (SGA) and selective serotonin-norepinephrine reuptake inhibitor (SNRI), at a dose of 60 mg/day 2 months prior to her first visit at our department for pain relief. After withdrawal of duloxetine, her symptoms promptly ceased, and her CA levels fell to normal values within 7 weeks.ConclusionWe conclude that selective serotoninnorepinephrine reuptake inhibitors (SNRIs) can cause symptoms suggestive of serotonin-secreting neuroendocrine neoplasms, as well as elevated CA levels leading to unnecessary and expensive diagnostic workups. To our knowledge, the association between SNRI treatment and increased CA levels has not been described in the literature and needs to be further evaluated in well-controlled prospective studies. (Endocr Pract. 2014;20:e215-e218)     

Chorea--an unusual manifestation in a woman recovering from myxedema coma

ObjectiveTo report a case of reversible chorea in a woman with myxedema coma.MethodsWe describe the clinical course, imaging findings, and laboratory test results of a patient who initially presented with myxedema coma and then developed reversible chorea upon treatment.ResultsA 33-year-old woman with a known history of primary hypothyroidism presented with a 3-week history of lethargy, progressing to a precipitous decline in consciousness that required intubation. Physical examination revealed concurrent hypothermia and bradycardia. Laboratory investigations demonstrated a thyrotropin concentration greater than 100 mIU/L, a free triiodothyronine concentration of 1.9 pg/mL, and a free thyroxine concentration of 0.24 ng/dL, but no other metabolic abnormalities. She was treated with intravenous levothyroxine therapy on the first 2 days of hospital admission (200 mcg and 250 mcg, respectively). On day 2, she was obeying commands and she was extubated. She began exhibiting choreiform movements. Thyroid function test results revealed a normal free thyroxine concentration (1.10 ng/dL), but an elevated thyrotropin concentration (40.98 mIU/L) and a low free triiodothyronine concentration (1.9 pg/mL). Findings from computed tomography and magnetic resonance imaging of her brain and analysis of cerebrospinal fluid were normal. Her regimen was transitioned to oral levothyroxine, 88 mcg daily, and by day 4, her choreiform movements ceased.ConclusionsNeurologic manifestations of hypothyroidism include psychomotor slowing, memory deficits, and dementia, with myxedema coma at the extreme of this spectrum. Although chorea is a rare manifestation of hyperthyroidism, this is the first report of a patient with acquired, reversible choreiform movement disorder while still being severely hypothyroid and treated with levothyroxine. (Endocr Pract. 2012;18:e43-e48)     

Total Parenteral Nutrition in Management of Hyperlipidemic Pancreatitis During Pregnancy

ObjectiveTo describe a case of severe gestational hyperlipidemic pancreatitis successfully managed with minimal-lipid-containing parenteral nutrition (PN) followed by a minimal-fat diet, which resulted in delivery of a healthy full-term neonate.MethodsWe present the case of a young woman with gestational hyperlipidemic pancreatitis whose management included the use of PN during pregnancy. In addition, we review the literature pertaining to the management of hyperlipidemic pancreatitis during pregnancy and discuss the role for PN.ResultsA 32-year-old gravida 2, para 1 woman at 27 weeks 3 days of gestation presented with 1 day of nausea, bilious emesis, and severe abdominal pain caused by pancreatitis attributable to hypertriglyceridemia. Her initial serum triglyceride concentration was 9,450 mg/dL. She received fluids intravenously and minimal-lipid PN until resolution of her symptoms. The serum triglyceride level remained less than 850 mg/dL during administration of PN. She subsequently tolerated a minimal-fat diet, while the serum triglyceride level was maintained at less than 1,400 mg/dL, until delivery of a full-term, healthy neonate.ConclusionIn severe gestational hyperlipidemic pancreatitis, PN offers a safe and flexible treatment option by providing pancreatic rest and controlling serum triglyceride concentrations while maintaining fetal and maternal nutritional support. (Endocr Pract. 2005;11:325-330)