bluuebunny/crossref_metadata_2025_split huggingface dataset:
SUN-064 Diversity of Endocrine Function in Patients with CHARGE Association
Authors: Uehara Erika , Nagata Tomohiro , Terashita Shintaro , Matsumoto Masaaki , Yamaguchi Tomoe , Ota Tomoko , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko 
Published: May 2020

Abstract
Context: CHARGE association consists of congenital malformation of Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or deafness. It is often caused by CHD7 gene mutation, which also one of the causative gene for Kallmann syndrome. The endocrine dysfunction in CHARGE association has been reported but not fully understood. Objective: To clarify the mode of growth and frequency of endocrine dysfunction in CHARGE association. Subjective: We investigated the characteristics of growth and puberty, and endocrine function in 23 children (15 males and 8 females, 0~20 years old) with CHARGE association. Results: The birthweight was from -2.74 to +1.14 SDS and the birth length was from -2.86 to +1.10 SDS. 5 children were born small for gestational age. The height below -2SDS in 18 children. GH secretion was evaluated in 11 children with short stature (-9 to -2.3SD) except for one with normal height (-0.3 SD in 6 years old girl); 5 children including one with normal stature were revealed to have GH deficiency. One short girl with GH deficiency previously showed normal GH response to provocation test at 1 year old but has developed to be GH deficient at 7 years old. Gonadotropin-releasing hormone loading tests were performed in 7 males and 3 females. Nine out of 10 children showed hypogonadotropic hypogonadism; one girl showed hypergonadotropic hypogonadism, whose ovaries were undetectable on ultrasound. Human chorionic gonadotrophin (HCG) tests were performed in 6 males with micropenis and/or cryptorchidism. Peak testosterone levels after HCG stimulation were from 0 to 6.99 ng/ml. 4 patients showed peak testosterone levels less than 1 ng/ml. Four boys showed combined gonadotropin deficiency and primary hypogonadism. Conclusions: Our data showed the diversity of endocrine function in children with CHARGE association. GH deficiency can be developed over time. Hypogonadotropic hypogonadism is common, while isolated/combined primary hypogonadism should be taken into consideration in children with CHARGE association.
OR14-07 Association Between Placental Glucose Uptake and Protein O-Glcnacylation and Birth Outcomes in Obese Non-Diabetic Mothers
Authors: Panetta Pamela , Zammit Victor A , Savvidou Makrina D , Johnson Mark R , Grammatopoulos Dimitris 
Published: May 2020

Abstract
Increased transport of nutrients such as glucose, across the placenta, has been linked to abnormal fetal growth and pregnancy complications in obese non-diabetic mothers (1); however, the underlying mechanisms are poorly understood. We hypothesized that in placenta, the metabolic and nutrient sensor O-GlcNAc transferase (OGT), highly sensitive to glucose flux through the hexosamine biosynthetic pathway (HBP), responds to maternal obesogenic environment by increasing O-GlcNAc post-translational modification of nucleocytoplasmic proteins in the placenta altering fetal growth trajectories. Tissue biopsies were isolated from placentas collected at term from 26 non-diabetic mothers alongside routine biochemistry and anthropometric data (maternal fasting glucose, glycated hemoglobin (HbA1c), early pregnancy body weight (BMI) and birth weight). OGT and glucose transporter 1 (GLUT1) protein expression as well as tissue levels of O-GlcNAcylation were determined by immunoblotting using specific antibodies. The BeWo choriocarcinoma cell line was also used as an in vitro model of trophoblast to test the effect of high glucose and GLUT1 silencing on the OGT activity by immunoblotting. Maternal BMI was positively correlated to birth weight centile (BWC) (p=0.0130, R2=0.231), maternal fasting glucose (p=0.0177, R2=0.221) and HbA1c levels (p= 0.0156, R2=0.229) as well as placental OGT protein expression (p=0.0294, R2=0.183). The latter was positively associated to the levels of protein O-GlcNAcylation (p=0.0023, R2=0.326). Interestingly, GLUT1 protein levels were positively correlated to BWC (p=0.0056, R2=0.279) and strongly correlated to protein O-GlcNAcylation (p&lt;0.0001, R2=0.507), suggesting an increase in the placental flux of glucose. In agreement with findings in placenta biopsies, in BeWo cells total protein O-GlcNAcylation levels were altered by cell exposure to different glucose levels (5 mM vs 15 mM, p&lt;0.01). This was prevented by downregulating OGT or GLUT1 expression (p&lt;0.001) using gene silencing. In addition, OGT protein levels were negatively associated to AMP-activated protein kinase (AMPK) activation (p=0.0005, R2=0.402) in placenta biopsies identifying a novel cross-talk between two placental nutrient sensors, OGT and AMPK, previously shown in other tissues (2). Accordingly, the silencing of OGT promoted the activation of AMPK (p&lt;0.01) and its downstream target acetyl-CoA carboxylase (ACC) (p&lt;0.01) in BeWo cells, as demonstrated by increased phosphorylation of residues Thr172 and Ser79 for AMPK and ACC respectively. Such obesity-associated cross talk between metabolic and nutrient sensors might disrupt multiple cellular pathways involved in fetal development and growth. References: (1) Acosta et al. Am J Obstet Gynecol. 2015 Feb;212(2):227. (2) Bullen et al. J Biol Chem. 2014 Apr 11;289(15):10592-606.
MON-334 Severe Hypercalcemia Following Hip Joint Implantation of Stimulan® Calcium Sulfate Antibiotic Beads
Authors: Motevalli Mahsa , Moseley Kendall F , Buber Robert , Jha Smita , Zilbermint Mihail 
Published: May 2020

Abstract
Introduction: The diagnosis and management of hypercalcemia in hospitalized patients can be challenging. Hypercalcemia is often associated with significant morbidity and end-organ damage which may delay a patient’s recovery. Case report: A 63-years-old female presented for evaluation of left hip pain and was found to have an infection of the prosthetic joint. Past medical history was significant for type 2 diabetes and atrial fibrillation. No known history of malignancy or excess calcium, vitamins A or D intake. Past surgical history was significant for multiple left hip fixation surgeries and a left hip arthroplasty 4 months prior. Patient’s serum calcium on admission was 8.4 mg/dL (corrected 9.5 mg/dL, range 9.5-10.5 mg/dL), serum creatinine 1.2 mg/dL (range, 0.5 - 1.2 mg/dL). Three days later, she underwent surgical irrigation and debridement of the left hip with placement of 30 cc STIMULAN® antibiotic beads with vancomycin. On postoperative day (POD) 5, patient was found to be confused. Laboratory workup revealed serum calcium 13 mg/dL, ionized calcium 1.91 mmol/L (range, 1.12-1.32 mmol/L), serum creatinine 1.6 mg/dL, intact PTH 10 (range, 15- 65 pg/mL), PTH-rp 15 pg/mL (range, 14-27 pg/mL), 25-OH-vitamin D 18 ng/mL (range, 30-60 ng/mL), 1,25-OH2-vitamin D &lt;8 ng/mL (range, 18-72 ng/mL). Clinical challenge: The differential diagnosis of non-PTH mediated hypercalcemia includes malignancy, granulomatosis and/or excess calcium intake. The patient’s history and laboratory data were not consistent with these etiologies. The temporal nature of the hypercalcemia in relation to implantation of antibiotic beads suggest causality of exogenous calcium sulfate and development of the patient’s hypercalcemia. Mild renal insufficiency, as well as immobilization in the setting of surgery, were likely also contributory. Treatment and outcome: This patient was first treated with aggressive intravenous saline and calcitonin. Serum calcium rose to 13.7 mg/dL and pamidronate 30 mg was administered. Hypercalcemia resolved on POD 11 with improvement in patient functional status. Discussion: Hypercalcemia due to implanted calcium sulfate antibiotic beads is not well described outside of case reports. Kallala found hypercalcemia in less than 0.01% of patients who underwent bead implantation, with all the affected patients presenting with preoperative renal failure. Conclusion: Hypercalcemia in the setting of calcium sulfate antibiotic beads implantation may contribute to a patient’s confusion and increase length-of-stay. We recommend serum calcium and creatinine to be closely monitored during the perioperative period in patients who receive calcium sulfate antibiotic beads. Risk factors for the development of hypercalcemia require additional study, though patients with pre-existing renal insufficiency may not be good candidates for the mechanism of antibiotic administration.
MON-310 Factors Associated with Remission After Surgery for Acromegaly
Authors: Cunha Clara , Ferrinho Cátia , Silva Eugénia , Saraiva Catarina , Marques Conceição , Chorão Martinha , Graça Joana , Duarte Sequeira 
Published: May 2020

Abstract
Background: Acromegaly is a disorder characterized by excessive growth hormone (GH) secretion, which, in most cases, is caused by a GH secreting adenoma. Surgical removal of the tumor via a transsphenoidal approach is the first choice treatment for most patients. The remission rate after an initial resection is 80 to 90 percent for microadenomas and less than 50 percent for macroadenomas.
Objective: To analyze predictive factors of remission in acromegaly patients who underwent transsphenoidal surgery for GH secreting adenoma.
Methods: From January 2006 to October 2019, 75 patients with GH secreting pituitary adenoma were evaluated at our center. Patients who had undergone medical treatment or radiotherapy as first treatment were excluded. A total of 60 patients were included in the analysis. Remission was defined as normal serum insulin-like growth factor-1 (IGF-1) age and sex adjusted and a random serum GH less than 1 ng/mL and/or nadir GH during oral glucose tolerance test &lt;0.4 ng/mL.
Results: We evaluated 60 patients (41 females and 19 males), with a mean age at diagnosis of 49.6 (ranged from 23 to 77 years). Mean initial IGF-1 was 905.3 ng/mL (range 100-324) and mean initial GH was 25.0 ng/mL (&lt;2.5). Macroadenomas were more common than microadenomas (48 vs 12). The average maximum tumor diameter was 15.6 mm and 21 patients were graded as Knosp 3 or 4, which indicated cavernous sinus invasion. Patients were follow for 11.8 years. Overall, the remission rate was 50.0% after surgery. Mean age of patients in surgical remission (51.6 years) was higher than those patients not in remission (47.5 years) (p=0.439). Remission rates for microadenomas and macroadenomas were 75.0% and 44.9%, respectively (p=0.04). Patients who achieved remission had smaller tumors compared with those who failed to attain remission (mean diameter 11.6mm versus 17.8 mm). Using the Knosp classification system and preoperative magnetic resonance images to determine cavernous sinus invasion, Knosp grade 3 to 4 tumors were found in 5 patients in remission and in 16 patients with persistence of disease (p=0.003). Patients who achieved remission had a significantly lower preoperative IGF-1 level (650.5 ng/mL) compared with those who did not (1211.0 ng/mL) (p=0.04). Preoperative GH levels were lower for the patients who achieved remission (18.7 ng/mL) than for those who did not (32.5 ng/mL, p=0.006).
Conclusions: In our study, predictors of biochemical remission after surgery were smaller tumor size, lower Knosp grade, and lower preoperative GH and IGF-1 levels.
SAT-560 Usefulness of Contralateral Suppression in Adrenal Venous Sampling to Define Lateralization in Primary Aldosteronism
Authors: Freitas Thaís C , Maciel Ana Alice Wolf , Vilela Leticia Assis Pereira , Rassi-Cruz Marcela , Petenuci Janaina , Pereira Maria Adelaide A , Silva Giovanio V , Abreu Andrea P , Yamauchi Fernando , Srougi Vitor , Tanno Fabio Y , Chambo Jose L , Latronico Ana Claudia , Bortolotto Luiz A , Drager Luciano , Pilan Bruna , Cavalcante Aline C B , Francisco Carnevale , Fragoso Maria Candida B v , Mendonca Berenice B , Almeida Madson Q 
Published: May 2020

Abstract
Primary aldosteronism (PA) is the most common cause of endocrine hypertension. PA subtypes include bilateral hyperplasia and unilateral PA, typically aldosterone-producing adenomas. Adrenal venous (AV) sampling (AVS) is a key step to define PA subtype and guide PA management. According current PA guidelines, most PA patients should undergo AVS, which is a challenging procedure, especially in terms of successfully cannulating the right AV. The aim of this study was to report a single tertiary center experience with AVS in PA patients. We retrospectively evaluated 84 AVS from 1984 to 2019. Sequential AVS was performed by an experienced interventional radiologist. AV and inferior vena cava (IVC) samples were obtained under cosyntropin continuous infusion. Successful catheterization was defined by a selectivity index [SI= AV/IVC cortisol (C) concentrations] ≥5. Unilateral disease was defined by a lateralization index [LI= aldosterone (A)/C ratio in the dominant AV divided by A/C in the non-dominant AV] ≥4. The relative aldosterone secretion index (RASI= A/C ratio in AV divided by A/C in IVC) was calculated in each side. A RASI &lt;1 was defined as contralateral suppression (CS). In patients with unsuccessful AV catheterization (mostly right AV) or undetermined LI (3-4), CS was used to indicate adrenalectomy. The biochemical cure of PA after adrenalectomy was defined as the gold standard parameter to confirm unilateral disease. Successful bilateral AV catheterization was achieved in 75% of the cases. After 2015, the use of intra-procedural rapid cortisol assay improved angiographer experience and increased AVS successful rate from 52 to 80%. LI revealed unilateral and bilateral aldosterone excess in 68 and 32% of the cases, respectively. A LI ≥4 had a sensitivity of 100% and specificity of 98% to define unilateral PA among patients with successful catheterization. In addition, RASI in the non-dominant AV was significantly lower in unilateral PA according the LI when compared to bilateral cases [0.12 (0.03 to 1.18) vs. 1.1 (0.04 to 4.56), p= 0.0001]. RASI in the non-dominant AV was inversely correlated with LI (r= -0.81, p= 0.0001). A CS index ≤0.5 had a high sensitivity (90%) and specificity (94%) to define unilateral aldosterone excess. In conclusion, the LI is the most valuable parameter in AVS for PA subtyping. Additionally, CS (cut-off of 0.5) is very useful to define lateralization and can be used in cases of borderline LI or unsuccessful AV catheterization.CAPES Grant to Freitas TC.
SAT-425 Characteristics of Hypothyroid Patients Achieving Long Term Euthyroidism on Levothyroxine Treatment
Authors: Tandeter Howard , Murad JaYanah , Alfandari Liad , Novack Victor , Fraenkel Merav 
Published: May 2020

Abstract
Background
Studies have shown that hypothyroid patients treated with Levothyroxine replacement therapy often experience fluctuations in TSH levels, while others remain well controlled over time.
Aim
To assess the association between pre-treatment TSH and other biochemical and clinical characteristics and long-term maintenance of normal TSH under Levothyroxine treatment.
Methods
This is a retrospective nested case-control study. Study population included patients above age 18 insured by Clalit Health Service (CHS) in the South of Israel between the years 2002-2017, diagnosed with hypothyroidism (ICD 9 code 244.9) and who had at least one TSH measurement before initiating levothyroxine therapy, purchased this medication for at least 5 consecutive years with one annual TSH measurement while on treatment. Patients with surgical, post iodine ablation or congenital hypothyroidism were excluded. Patients with a TSH level within the normal range for 5 consecutive years were defined as cases while the others served as controls. Demographic, laboratory, pregnancy status and pharmacy purchase were extracted from the computerized medical records of CHS and compared between the groups.
Results
Out of 5472 patients included in the study, 644 had a normal TSH for 5 consecutive years (11.8%, cases). Mean age at first levothyroxine purchase was 55.8±13.7 in cases and 54.10±16.2 in controls (p=0.003) and females comprised 84.8% and 81.4% respectively (p=0.035). Mean pretreatment TSH was 5.15±9.6 in cases and 10.02±29 in controls (p&lt;0.001). Thyroid autoantibodies (anti TPO or anti thyroglobulin) were available in 40.8% and 44.8% of cases and controls respectively (P=0.63) and were positive in 36.5% and 56.7% (p&lt;0.01). Subclinical hypothyroidism was diagnosed in 44.4% of cases and 54.6% of controls with prior to treatment. The odds ratio (OR) for having normal TSH for at least 5 consecutive years, using multivariable logistic regression was 0.99 for pretreatment mean TSH (p=0.89), 0.48 for positive thyroid antibodies (p&lt;0.001), 0.72 for pretreatment diagnosis of subclinical hypothyroidism (p=0.032), 0.69 for use of iron supplements and 1.01 for age at first levothyroxine purchase (per year, p=0.02).
Conclusions
In our study population of adults with hypothyroidism treated with levothyroxine, only 11.8% were controlled for at least 5 consecutive years. Positive thyroid autoantibodies, pretreatment subclinical hypothyroidism and use of iron supplements lowered probability of long term TSH normalization, while age was associated with the increased rate. Further research should test whether TSH control for 5 consecutive years signals simply “good contol”, or perhaps the possibility of transient forms of hypothyroidism for which treatment discontinuation is recommended.
MON-632 The Effects of a High Intensity Glycemic Program on Weight and BMI
Authors: Guzman Heidi , O’Malley Grenye , Tamru Abigail , Levy Carol Joan , Lam David 
Published: May 2020

Abstract
Background:
Multiple studies have shown that intensive glycemic control leads to improved HbA1c and delays the onset of complications in diabetes.1 However, improvement in glycemic control has also been associated with weight gain.1 The High A1C (HAC) program uses a multidisciplinary team to provide intensive therapy to patients with HbA1C ≥ 10% over 3 months to improve glycemic control. The aim of this retrospective study is to examine if the HAC program is associated with a significant change in weight and BMI.
Methods:
Patients enrolled in the HAC program were scheduled for frequent visits over the course of 3 months with an Endocrinologist, nurse practitioner, or diabetes educator. Data from patients with type 2 diabetes enrolled from March 2018 to June 2019 who attended at least 2 appointments was collected. Pre-enrollment HbA1c, weight, BMI, and total daily dose (TDD) of insulin (units/kg/day) were compared to post-enrollment using t-test analysis. Use of weight-lowering anti-hyperglycemic agents such as Metformin, GLP-1 agonists (GLP1A) and SGLT-2 inhibitors (SGLT2i) was collected.
Results:
44 patients were enrolled with 39/44 (88.6%) attending at least 2 visits and 5/44 (11.3%) who were lost to follow-up. The median HbA1c improved from 11.5% (9.7-14%) to 8.4% (5.9-14%), p&lt;0.001.There was no significant change in mean weight (195lbs (110-360) vs 192lbs (114-358), p=0.14) or BMI (31 (20-49) vs 31 (21-49) kg/m2, p=0.86). Pre-enrollment, 33/39 (84.6%) patients were on Metformin, 10/39 (25.6%) were on a GLP1A, and 3/39 (7.7%) were on a SGLT2i. At the end of the program, there were 34/39 (87%) patients on Metformin, 26/39 (66.6%) on a GLP1A, and 17/39 (43.5%) on a SGLT2i. There was no difference in the mean TDD of insulin at the start of the program of 0.63 units/kg/day (0-3.52 units/kg/day) compared to 0.60 units/kg/day (0-4.07 units/kg/day) at the end of the program (p=0.97).
Conclusions:
Patients enrolled in a high intensity glycemic control program had significant improvements in HbA1c without change in weight or BMI. Additional adjunctive non-insulin therapies and lifestyle management may be contributing factors for weight neutrality in our population. The significant improvement in HbA1c was not linked with increases in TDD of insulin.
Citation:
1.“U.K. Prospective Diabetes Study Group: Intensive blood glucose control with sulfonylureas or insulin compared with convention treatment and risk of complications in patients with Type 2 Diabetes.” Lancet, vol.353, 1998, pp.837-53.
SAT-108 Growth Hormone Deficiency in a Patient with Ectodermal Dysplasia
Authors: Alkhaled Lina , Haider Anzar 
Published: May 2020

Abstract
Background information:
Ectodermal dysplasia (ED) is a rare heterogeneous group of genetic disorders of ectodermal derived tissues, characterized by abnormalities in skin, teeth, hair and eccrine glands. Growth failure in these children varies depending on the genetic mutation and has not been well characterized. This clinical case report presents a 11-year-old male with a heterozygous mutation in WNT 10 A, a variant of the hypohydrotic ED gene, who was found to have growth hormone (GH) deficiency and treated with GH.
Case report:
He was born at 35 weeks gestation by C-section with a birth weight of 5 lbs. 12 oz. to a mother who had invitro fertilization with donor eggs from the maternal aunt with ocular myasthenia gravis and sperm from the father. Pregnancy was complicated by twin gestation and polyhydraminos. He had transient myasthenia gravis and treated with pyridostigmine for 3 months for feeding problems and swallowing difficulty. He also had arthrogryposis of the distal upper extremities attributed to placental transfer of the maternal aunt’s myasthenia gravis antibodies.
He was referred to the endocrine clinic for evaluation of his growth failure around the age of 8 years. His growth chart indicated that he grew along the 5thpercentile until age 5 year with a gradual decline to the 3rd percentile by age 7 year and close to 2nd percentile by age 8 year. His BMI was at 7th percentile. Mid parental height was 5’9”. There was no history of delayed adolescence in the family. His twin sister had very mild form of arthrogryposis with dental delay but steady linear growth. He also had decreased exercise tolerance. His body tended to become hot during sports activities and had to wrap his face and neck with cold soaked towels. His other problems included delayed dental development with conical incisor, thin nail, missing teeth and hearing defects that raised suspicion for ectodermal dysplasia. Genetic testing at the age of 4 years had demonstrated a heterozygous mutation in the WNT 10A gene, an important gene for tooth development. Physical examination revealed a mild facial dysmorphism with conical incisor, missing teeth and high arched palate. He had contracture of the proximal inter phalangeal joints of the hands. Investigations revealed a normal thyroid function test, IGF-1 and IGFBP-3 level, CBC, sedimentation rate, chemistry panel and celiac titer. The bone age was concordant with his chronological age of 8 years. A GH stimulation study demonstrated a peak GH level of 4.94 ng/ml. An MRI of the brain revealed a normal pituitary gland. He was started on GH therapy with 0.3 mg/kg/week at age 9 year. His height improved from 2nd percentile at age 9 year to 20th percentile by age 11 year on growth hormone therapy. His exercise capacity and stamina also improved.
Conclusion:
Growth failure and GH axis should be evaluated in children with ED. GH therapy improves growth velocity and exercise capacity in patients with ED.