bluuebunny/crossref_metadata_2025_split huggingface dataset:
PMON188 Frequency of Hemoglobin A1c and Body Mass Index Increase in Youth at Risk for Developing Type 2 Diabetes Mellitus During the COVID-19 Pandemic
Authors: Wee Erica , Sherman Ashley K , Clements Mark A , Halpin Kelsee , Yan Yun 
Published: November 2022

Abstract
BACKGROUND: Childhood obesity rates continue to increase and have progressed with the COVID-19 pandemic. Obesity is associated with comorbidities, including prediabetes and type 2 diabetes mellitus (T2D). The frequency of HbA1c progression in overweight/obese children during the COVID-19 pandemic is not well reported.
OBJECTIVES: To investigate the frequency of HbA1c and BMI increase in overweight/obese youth at risk of developing T2D during the COVID-19 pandemic.
METHODOLOGY: A retrospective chart review of patients followed in a pediatric endocrinology clinic with overweight/obesity and concern of developing T2D was conducted. We included patients who were seen pre-pandemic (June 2019 to May 2020) and again after the pandemic onset (June 2020 to May 2021). We chose June 2020 as the pandemic onset since our clinic resumed in-person visits at this time. Demographic and clinical data, including BMI and HbA1c, were collected in the pre-pandemic and pandemic periods for each patient. We evaluated change in HbA1c using the following categories: Category 1: &lt;5.7%, Category 2: 5.7-6%, Category 3: 6.1-6.4%, Category 4: 6.5-8.4%, and Category 5: &gt;8.4%. HbA1c progression defined as increase in the HbA1c category. BMI progression defined as a z-score increase of at least 0.2 and we only included patients with 6-18 months between visits for this analysis. Chi-square or Fisher's exact test and t-test were used to evaluate HbA1c and BMI progression.
RESULTS: A total of 64 patients (mean age 12.6 years, 58% female, 31% Black) were evaluated and had available HbA1c data. HbA1c progression was found in 18.8% (12 of 64) of patients during the pandemic. Based on pre-pandemic age, those with HbA1c progression had a mean (SD) age of 14.1 (2.3) years while those whose HbA1c did not progress had a mean (SD) age of 12.3 (2.7) years (p=0.04). Other characteristics including birth sex (p=0.18), race (p=0.54), and insurance (public/private/self-pay) (p=0.83) were not significantly different between those with and without HbA1c progression. We found that 9.1% of patients with HbA1c progression also had BMI progression compared to 6.7% without HbA1c progression (p= 1.0).
SUMMARY: We found that 18.8% of overweight/obese youth with risk of developing T2D had HbA1c progression during the COVID-19 pandemic and that older age was a risk factor for HbA1c progression. Significant BMI increase was not associated with HbA1c progression. Further studies are needed to evaluate the impact of COVID-19 pandemic on HbA1c and BMI progression in youth at risk for T2D.
Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
PMON190 Characterization Of Lymphedema With Respect To Phenotype and Karyotype in Patients With Turner Syndrome
Authors: Law Jennifer , Ross Judith , Ikomi Chijioke , Blatt Julie , Truxon Alyssa , Lawler Corinne 
Published: November 2022

Abstract
We characterize karyotypic and phenotypic features of a cohort of patients with Turner syndrome (TS) and lymphedema (LD).
Medical records from two large TS specialized pediatric clinics were reviewed retrospectively. Seventy-one patients with TS and history of LD were identified, mean age 15.9 ± 7.71 years. Reported LD onset was in infancy in 72% of patients, with 56% (40/71) reporting LD present at birth. LD affected hands in 29% of patients, feet in 57%, and both hands and feet in 25%. 46% reported LD was a current problem, with 11% stating it was present but not a problem. 73% (52/71) of children in this cohort had the 45,X karyotype. The remainder had mosaic/complex karyotypes. 55% of children had congenital heart disease and 10% had renal anomalies. 76% were on growth hormone treatment, 52% had a history of estrogen replacement.
Lymphedema is a frequently under-documented comorbidity in Turner syndrome, with limited data currently available. Analysis of a larger cohort comparing patients with TS with and without LD is underway including the role of growth hormone and estrogen replacement in LD. Given that new therapies are being developed for LD in other genetic conditions, a better understanding of LD in Turner syndrome is important for management considerations.
Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
PMON191 Current Management of Acute Adrenal Insufficiency Related Adverse Events in Children with Congenital Adrenal Hyperplasia- Results of an International Survey of Specialist Centres
Authors: Ali Salma Rashid , Bryce JIllian , Krone Nils , Claahsen-van der Grinten Hedi , Ahmed S Faisal 
Published: November 2022

Abstract

Background
There is wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres and the definition of these events as well as their management may vary from one centre to another. A greater standardisation of the definition and management of these events would facilitate the benchmarking and comparison of care across centres.

Objective
Evaluate the level of consensus on the criteria that should be considered 'essential' for defining and managing acute AI related adverse events in children with Congenital Adrenal Hyperplasia.

Methods
Active users of the International Congenital Adrenal Hyperplasia & International Disorders of Sex Development (I-CAH/I-DSD) Registries (n=66), non-active users of I-CAH/I-DSD (n=35) and the EuRRECa e-Reporting Registry (n=10) were approached to complete an online survey.

Results
56 clinicians from 27 countries responded to the survey; response rates for the three Registry groups were 42 (65%), 11 (31%) and 3 (30%), respectively. Written corticosteroid management plans and one to one patient/parent education were provided by 54 (96%) and 51 (91%) clinicians, respectively; 33 (59%) provided steroid-aware emergency cards. 56 (100%) and 55 (98%) clinicians advised an increase in glucocorticoid dosing (sick day dosing) in the event of fever or severe infection (eg. pneumonia). Less common indications for sick day dosing included vaccination and mild afebrile intercurrent illness, recommended by 17 (30%) and 9 (16%) clinicians, respectively. The most frequently reported sick day dosing regimen was tripling the total daily dose of hydrocortisone and administering 3 times daily, reported by 24 (43%) clinicians. 40 (71%) specified the duration of sick day dosing as ≥48 hours for severe infections. Vomiting and diarrhoea were the most common indications for intramuscular hydrocortisone, reported by 34 (61%) and 25 (45%) clinicians, respectively. Over 50% of respondents indicated that essential clinical criteria for adrenal crisis should include fatigue and nausea or vomiting and over 60% indicated that the criteria should include hypotension, hyponatraemia, hyperkalaemia and clinical improvement following parenteral glucocorticoids. A bolus parenteral injection of hydrocortisone and glucose infusions were the most frequently administered medications, reported by 50 (89%) and 32 (57%) of clinicians, respectively.

Conclusions
Although there is considerable variation in the definition and management of AI related adverse events in children amongst specialist centres, there is also good evidence of consensus on specific aspects that can be used to develop standardised criteria and lead to greater benchmarking of care.
Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
PMON319 A Pure Androgen Secreting Adrenal - Cortical Tumor in a 13 Year Old Female
Authors: Senguttuvan Rajan , Brown Gilda , Cannon Kendall , Jovel Valeria Munguia 
Published: November 2022

Abstract

Background
Adrenal cortical adenomas are exceedingly rare representing 0.2% of pediatric malignancies and often present with signs of Cushing syndrome, virilization and mixed elevated hormones.[1] We present a rare case of a virilizing androgen only secreting adrenal cortical adenoma with resolution after surgical removal.

Clinical Case
A 13-year-old female was referred to endocrine clinic for 1 year history of deep masculine voice, hirsutism and elevated DHEA-S levels. She also reported facial hair requiring removal every 3 to 4 days, back hair, acne, and dull aching back pain. Pubertal changes began at age 9 with breast development and menarche at age 11 followed by amenorrhea. On physical exam, she had a significantly deep masculine voice, axillary hair, female genitalia with prominent clitoris, Tanner Stage IV pubic hair and Stage III breast development. Blood pressure was within normal limits and weight was historically consistent in the 90th percentile.
Initial labs were significant for elevated 17-Hydroxypregnenolone 353 ng/dL (ref: 44-235), Androstenedione LCMS 903 ng/dL (ref: 50-170), Testosterone 100 ng/dL (ref: 15-35), DHEA 5460 ng/dL (ref: &lt;202) and DHEA-S &gt;1000 ug/dL (ref: 67.8–328.6). LH, FSH, Estradiol, Cortisol LCMS, and Chromogranin A were within normal limits for her sex and age. Further work up ruled out pheochromocytoma, paraganglioma, Cushing's syndrome and congenital adrenal hyperplasia. Magnetic resonance imaging revealed a well-circumscribed 5.5×5.8×6.4 cm cystic and solid left adrenal mass and displacement of the left kidney.
She was referred to endocrine oncology and surgery specialists. Genetic testing showed absence of TP53 involvement. Patient underwent open left adrenalectomy, and remained hospitalized for 3 days in recovery. The surgical pathology identified an adrenal cortical adenoma Stage II (pT2, pN0, cM0) measuring 8.7×6.0×3.3cm with slight increase of ki67 index at 3.7% (average 8044 nuclei counted) and hot spot with 4.6% (1266 nuclei counted). Follow up revealed resumption of regular periods, improvement in acne and male-pattern hair growth, and voice becoming less deep beginning 3 months post-operatively. DHEA-S returned to normal ranges at 220 ug/dL (ref: 67.8–328.6). Patient did well post-operatively except for occasional sharp back pain.

Discussion
Rare amongst adrenal tumors are isolated androgen-secreting sub types. To our knowledge, this is one of the first documented cases of a pure androgen secreting adrenal cortical tumor without symptoms of Cushing's syndrome in the pediatric population.

References
1. Pinto EM, Zambetti GP, Rodriguez-Galindo C. Pediatric adrenocortical tumours. Best Pract Res Clin Endocrinol Metab. 2020;34(3): 101448. doi: 10.1016/j.beem.2020.101448
Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
PMON330 The Relationship between Pituitary Volume and Chiari Malformation in Growth Hormone Deficiency and Idiopathic Short Stature
Authors: Manely Sarah , Noto Richard , Sayegh Emily , McGuirk Liam , Patale Tara , Krasnow Matt , Epstein Ben , Tenner Michael , Mehta Shilpa , Schefflein Javin , Mehta Hasit 
Published: November 2022

Abstract
Patients with a small posterior cranial fossa may present with cerebellar tonsillar herniation through the foramen magnum, known as Chiari malformation (CM). The relationship between CM, pituitary volume (PV), and growth hormone deficiency (GHD) has not yet been explored and is the subject of this abstract. This study seeks to compare the differences in PV in short patients with CM with a diagnosis of either GHD or idiopathic short stature (ISS), to normal controls (NCs). The database of a Peds Endo Center between 2013-21 was queried for patients with CM and who had undergone MRI evaluation. Patients were separated into 4 groups: CM and GHD, CM and ISS, GHD without CM, and ISS without CM. These groups’ PV results were compared with NCs who we previously reported. The ages of short patients with CM (n=29) were compared to the ages of NCs (n=170); no significant difference was found (p = 0.12). The MN and MD PV for patients with GHD alone were 230.8 ± 89.64 and 217.62mm3, respectively. The MN and MD PV for patients with GHD and CM (n=23) were 246.55 ± 128.0 and 200.5mm3, respectively. The MN and MD PV for CM and ISS (n=6) were 671.54 ± 350.25 and 619.55mm3, respectively. The MN and MD PV for NCs were 364.0 ± 145.2 and 346.0mm3, respectively. The PV of patients with GHD alone were compared to the PV of patients with both GHD and CM; there was no significant difference found (p=1.0). Next, the PV of patients with GHD alone were compared to the PV of patients with both ISS and CM which showed that patients with GHD alone had significantly smaller PV compared to patients with both ISS and CM (p&lt;0.05). Lastly, we compared the PV of patients with both GHD and CM versus patients with both ISS and CM, which showed that patients with both GHD and CM had significantly smaller PVs compared to patients with both ISS and CM (p&lt;0.05). The PV of short patients with CM (n=29) were compared to the PV of NCs (n=170) and there was no significant difference found (p = 0.58). Our study demonstrates that PV is smaller in patients with GHD regardless of whether they have CM or not. We speculate that CM appears to be a radiological finding with no significant impact on PV, whereas GHD appears to have a significant impact on PV. Therefore we speculate the small PV exhibited in patients with CM and GHD appear to be related to GHD. A larger sample size will be needed to further elaborate on this concept.
Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
PSAT111 Neudesin Plasmatic Levels and Glucose Metabolism in Obese and Overweight Children: Preliminary Data
Authors: Vergani Edoardo , Bruno Carmine , Gavotti Cesare , Cipolla Clelia , Currò Diego , Mancini Antonio 
Published: November 2022

Abstract

Neudesin, a newly discovered peptide mainly secreted in brain and adipose tissue, is under evaluation for its possible activity as negative regulator of energy expenditure. In pre-adipocyte cultures neudesin promotes adipogenesis, while in mice model neudesin decreases food intake. Childhood overweight and obesity are among the main health issues in modern times, especially in western countries, due to the association to increased cardiovascular and oncological risk in adult age. No data on neudesin in obese and overweight children are currently available. Given that, we aim to perform an observational cross-sectional study testing the hypothesis that neudesin plasmatic levels may be affected in obese and overweight children. We also evaluated any eventual relationship between neudesin and metabolic and anthropometric parameters to gain insight on a possible role in childhood obesity.
34 children were included in the study and divided in two groups according to Cole's criteria. Group A included obese and overweight children, 23 patients, 17 females (Tanner stage 1) and 6 males, aged 4-10 years; Group B included normal-weight children, 11 patients, 7 females (Tanner stage 1) and 4 males, aged 3-10 years. Metabolic (glucose and insulin, total - LDL - HDL-cholesterol, triglycerides, uric acid) and hormonal (fT3, fT4, TSH, IGF-1, leptin) parameters were evaluated. HOMA index, QUICKI index and the area under the curve (AUC) of glucose and insulin after oral glucose load were calculated in obese and overweight children. Neudesin was measured by ELISA system.
Neudesin levels did not significantly differ between the two groups, even though a trend toward higher levels in group A was found (mean±SEM 3±0.32 ng/ml vs 1.98±0.15 ng/ml, p = 0.1). As expected, obese and overweight children showed significantly higher blood glucose, total and LDL cholesterol, triglycerides and leptin levels than those with normal weight. Interestingly, in obese and overweight children plasmatic neudesin levels significantly directly correlated with blood glucose and AUC of glucose. No other new significant correlation was detected in both groups.
Very few data on serum neudesin levels in human are available. To note, neudesin was lower in obese adolescents compared to age-matched normal controls (1), while children affected by type 1 diabetes mellitus showed higher levels than age-matched controls (2). Taken together, these results, although preliminary, may suggest a possible age-related role of neudesin in glucose homeostasis in obese/overweight children.

References
1. Celikkol A. et al, J Clin Res Pediatr Endocrinol, 2021 2. Polkowska A. et al, Biomed Res Int, 2019
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
LBSAT309 Recurrent Nephrolithiasis As A Presenting Feature Of Primary Hyperparathyroidism
Authors: Patel Toral , Arora Gunjan 
Published: November 2022

Abstract

Introduction
Primary hyperparathyroidism entails hyperfunctioning of the parathyroid gland and is characterized by hypercalcemia in the setting of inappropriately normal or elevated PTH. Evidence of nephrolithiasis is an indication for surgical intervention. We present a case of primary hyperparathyroidism presenting as recurrent nephrolithiasis.

Case presentation
A 57 year old female with past medical history significant for hypertension, pre-diabetes and recurrent nephrolithiasis presented to the ED with subjective fever, chills and dysuria. Of note, she had a long standing history of nephrolithiasis with multiple instances of cystoscopic lithotripsy and stent placement with recurrent UTIs over the past decade. She was noted to be in septic shock secondary to urosepsis. She was managed in the ICU with broad spectrum intravenous antibiotics and pressor support. Her workup revealed hypercalcemia with serum calcium 12 mg/dL (8.6 - 10.3), albumin 3.4 g/dL (3.5 - 5.7) in the setting of inappropriately elevated parathormone PTH at 120.4 pg/ml (12 - 88). Endocrinology was consulted. Extensive chart review revealed that she had a long standing history of hypercalcemia and prior urinary calculi analysis were consistent with calcium oxalate and calcium phosphate stones. She endorsed polyuria, polydipsia, constipation and low mood. Medications were reviewed and she had not been on any agents known to cause hypercalcemia. 25 Hydroxyvitamin D was low at 20 ng/ml (30 -100) and appropriately 24 hour urine calcium was low - suppressed at 157 mg (100 - 300). The Sestamibi scan did not show an adenoma. A parathyroid ultrasound showed a possible hypoechoic area bilaterally in the parathyroid region. She underwent parathyroid exploration with excision of right superior parathyroid adenoma. Pathology report showed hypercellular parathyroid tissue consistent with a parathyroid adenoma. Post operatively, calcium and PTH value normalized.

Discussion
Primary hyperparathyroidism is associated with nephrolithiasis and nephrocalcinosis. Nephrolithiasis is an indication for surgical intervention. Our patient had the classic signs of primary hyperparathyroidism for at least a decade; however, it was not diagnosed until she presented with urosepsis and ended up in the ICU. Primary hyperparathyroidism is often thought of as a disease commonly seen in the outpatient setting. However, a high radar of suspicion must be maintained in both inpatient and outpatient settings as this disorder, when left untreated can have dangerous consequences. Similarly, in patients presenting with nephrolithiasis, a thorough history and physical examination in addition to a complete review of systems and medication review must be carried out to effectively rule out primary hyperparathyroidism.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
ODP057 The Unusual Case of Hypercortisolism in a Patient with Juvenile Onset Hypophosphatasia
Authors: Maler Neal , Idriss Almoatazbellah 
Published: November 2022

Abstract
Juvenile onset hypophosphatasia is a rare, genetic disease that is caused by inactivating mutations in the ALPL gene which encodes tissue non-specific alkaline phosphatase (TNSALP). This leads to decreased activity of the TNSALP enzyme in target tissues and accumulation of TNSALP substrates, including inorganic pyrophosphate, an inhibitor of mineralization. This disease is characterized by low levels of alkaline phosphatase in serum and bone, osteomalacia, and periodontal disease. Patients with juvenile onset hypophosphatasia present with premature loss of primary teeth, delayed walking, and a waddling gait. These symptoms may improve spontaneously after puberty and recur later in life. Here we report the case of a 51 year old male who presented initially to endocrinology clinic with a metatarsal stress fracture with subsequent diagnosis of osteoporosis, periodontal infections, and associated myopathy and joint calcifications. The patient also had a prior history of a low alkaline phosphatase level as a child. Genetic testing showed a single variant of undetermined significance found in the ALPA gene. Of note, recent lab work for the patient showed AM cortisol 27.7 mcg/dL (reference range 4. 0-22. 0 mcg/dL) with ACTH 60 pg/mL (reference range 6 - 50 pg/mL). Prior 24 hour urine free cortisol measurements with LC/MS have demonstrated elevated values 159 mcg/24 hr and 256 mcg/24 hr (reference range 4. 0 - 50. 0 mcg/24 hr) . However, most recent testing demonstrated 24 hour urine free cortisol 3.6 mcg/24 hr, and the majority of midnight salivary cortisol tests were within normal. Pituitary MRI demonstrated no abnormalities. The patient has in the past reported findings of a dorsocervical fat pad, abdominal striae, and weight gain. There is no history of diabetes mellitus or hypertension, and the patient at this time reports stable weight without current presence of a fat pad or striae. There are no clinical features of Cushing's syndrome on exam. To our knowledge, this is the second case in the literature detailing hypercortisolism in a patient with hypophosphatasia. The etiology of the hypercortisolism is likely multifactorial, with unknown association with hypophosphatasia. Based on the clinical data it appears that the patient's chronic stress, pain, and anxiety are contributing to the hypercortisolism, and that this is not a true Cushing's or cyclical Cushing's case. Repeated midnight salivary cortisol tests have excluded the possibility of Cushing's as well.
Presentation: No date and time listed