bluuebunny/crossref_metadata_2025_split huggingface dataset:
FRI356 SIADH In Acromegaly And Cerebrovascular Accident
Authors: Simrampreet Gill , Guatemala Funes Irving Alexis , Gomez Danelly , Siddiqui Samrah , Zahedi Tooraj , Zhang Fan 
Published: October 2023

Abstract
Disclosure: S. Siddiqui: None. I.A. Guatemala Funes: None. G. Simranpreet: None. T. Zahedi: None. F. Zhang: None.
Introduction: Acromegaly is characterized by excess growth hormone secretion with distinctive features of acral overgrowth, soft tissue swelling, arthralgia, jaw prognostication, hyperglycemia, hyperhidrosis, and frontal bone bossing. Hypotonic hyponatremia may occur in patients with syndrome of inappropriate antidiuretic hormone secretion (SIADH), hypothyroidism, hypocortisolism, polydipsia, medications, heart failure, liver disease, or renal dysfunction. We reported a rare case of a patient with acromegaly treated with octreotide (somatostatin analogue) who was admitted for cerebrovascular accident and developed hyponatremia due to SIADH. Case Report: Patient is an 81 year old female with typical clinical features of acromegaly who presented with expressive aphasia and left sided facial droop. MRI and CT head revealed a 26 x 14 x 29 mm densely calcified/ossified extra-axial mass in the posterior fossa, displacing the brainstem and small vessel ischemia. Patient was treated with monthly intramuscular injection of octreotide for more than 20 years before she was switched to oral octreotide formula two weeks ago. Patient had nausea, vomiting, and altered mental status. Labs showed hyponatremia with serum Na 118 mmol/L, low serum osmolality 247 mOsm/kg, high urine osmolality 437 mOsm/kg, and urine Na 104 mmol/L. Serum Na further dropped to 115 mmol/L after IV normal saline which may be related to the desalination phenomenon of SIADH. Tolvaptan and hypertonic saline were initiated followed by treatment with salt tablets and furosemide. After several days, her serum Na level slowly trending up back to normal 135 mmol/L and patient recovered with no focal neurological deficits. Discussion: Treatment for acromegaly involves multiple approaches, such as somatostatin receptor ligands, GH antagonism, surgery, radiotherapy, and dopamine receptor agonists. Life-treating endocrine disorder may result from pituitary infarction or hemorrhage in patient with acromegaly. Although gastrointestinal sodium loss may precipitate hyponatremia in our patient, her elevated urine sodium and urine osmolality were consistent with SIADH. Clinicians should be cautious of the sudden onset of hyponatremia due to SIADH in acromegaly patients and prompt treatment is warranted.
Presentation: Friday, June 16, 2023
THU176 Identification Of IGF1R Gene Variants In Short Children Born Small For Gestational Age
Authors: Kwon Eun Byul , Kang Min Jae , Hwang Il Tae 
Published: October 2023

Abstract
Disclosure: E. Kwon: None. M. Kang: None. I. Hwang: None.
Introduction: In short stature children born small for gestational age (SGA-SS), IGF1R gene is one of important candidate genes in catch-up failure. Various deletions and single nucleotide variants of IGF1R have been reported. In this study, we aimed to find the prevalence of IGF1R gene mutation and to analyze their clinical characteristics. Method: Short stature children who met the following criteria were included: 1) Birth weight ≤ 10 percentile, and 2) Height at initial visit ≤ 3 percentile, and 3) IGF-1 SDS &gt; 0 or Height z-score &lt; -2.5. Calculations of IGF-1 SDS and birth weight SDS were based on previous reports (Clin chem 2012;45:16-21 and Ann Pediatr Endocrinol Metab 2014;19:146-153, respectively). Deletions were detected using SALSA MLPA probemix kit P217-B2 IGF1R (MRC Holland, Amsterdam, the Netherlands) and single nucleotide variants were analyzed by sanger sequencing of whole exon (#21) and exon-intron boundaries. Results: Mean age, birth weight SDS, height z-score, and BMI z-score of total 65 subjects were 8.0 years, -1.88, -2.83, and -0.52, respectively. Number of subjects whose birth weight ≤ 3 percentile was 25. Maximal value of IGF-1 SDS was 1.45. Family history of parental short stature (≤ 3 percentile) was found in 18 subjects. Growth hormone stimulation test was undergone in 64 subjects. Peak GH level was 1.35-41.74 ng/mL and 25 subjects had peak GH level &lt; 10 ng/mL. A heterozygous deletion in 15q26.2q26.3 was found in one subject. She was 6.6 years old and her height z-score, BMI z-score, and birth weight SDS were -4.22, 2.36, and -3.23, respectively. She had no family history of parental short stature and her serum levels of peak GH was 3.72 ng/mL and IGF-1 SDS was -0.66. Conclusion: In this study, the prevalence of IGF1R mutation was 1.5% (1/65 subjects). Although clinical characteristics of SGA-SS subjects are various and heterogenous, IGF1-IGF1R axis is an important mechanism in SGA-SS, therefore, further investigation is needed.
Presentation: Thursday, June 15, 2023
THU177 Brain Magnetic Resonance Imaging Abnormalities And Effect On Growth Response In Children With Growth Hormone Deficiency
Authors: Choe Jaewon , Lee Jieun , Kim Jae Hyun 
Published: October 2023

Abstract
Disclosure: J. Choe: None. J. Lee: None. J. Kim: None.
Purpose: There have been several studies on the association between structural abnormalities of the pituitary gland and its function. However, no studies have yet been conducted on children with idiopathic growth hormone deficiency (GHD) in Korea. We investigated clinical and laboratory findings of Korean children of idiopathic GHD by the presence or absence of pathologies in the pituitary gland. Material/Methods: A total of 479 patients were included from the LG growth study database. Participants had idiopathic GHD with available pituitary magnetic resonance imaging (MRI) and were treated with GH for at least 1 year between Feb, 2001 and Feb, 2020. Clinical characteristics were retrieved from the LG growth study database. Patients were divided into 3 groups according to pituitary MRI findings: (1) pathological findings in the pituitary gland; (2) pathological findings outside the pituitary gland; (3) without pathological findings with MRI. Results: Of the 479 patients, 297 (62.0%) were male and 198 (83.5%) were prepubertal. Their mean age was 7.56±2.95 years (2-16 years) and mean age of GH treatment was 7.56±2.96 years. Pituitary MR images of 354 (73.9%) patients were normal. Of the patients with detected pathologies (26.1%), 77 (61.6%) had pituitary hypoplasia, 15 (12.0%) had Rathke’s cleft cyst, 6 (0.05%) had partial empty sella, 6 (0.05%) had an arachnoid cyst, 3 (0.02%) had ectopic neurohypophysis, and 3 (0.02%) had a pineal cyst. There was no statistically significant difference in the height velocity after one year of GH treatment between groups with or without pituitary pathology (height SDS 0.71±0.34 with pituitary pathology and 0.66±0.35 with pituitary pathology; p=0.09). Conclusions: Among Korean children with GHD, approximately one-quarter of patients had abnormal pituitary MRI findings. There were no significant differences in predicting GH treatment response regardless of pituitary MRI abnormalities. Further long-term studies are needed.
Presentation: Thursday, June 15, 2023
THU179 Lifestyle Practices Elicited Different Responses To Growth Velocity Among Adolescents Depending On Different Levels Of Genetic Risk Score
Authors: Nguyen Nhat Nam , Fan Hsien-Yu , Chen Yang-Ching 
Published: October 2023

Abstract
Disclosure: N. Nguyen: None. H. Fan: None. Y. Chen: None.
Context: The evidence regarding effects of different lifestyle pratices, such as sun bathing, exercising, rope jumping, sleep duration, and milk intake, on growth velocity remain controversial and the influence of genetically determined characteristics on this association is less studied. Objective: To assess the impacts of different lifestyle pratices on annualized growth velocity and evaluate the role of several combined height-related alleles, mirrorred by the genetic risk score, on the association between lifestyle practices and growth among adolescents. Design: Prospective cohort study (mean follow-up duration: 2 years) Setting: Primary Care Participants: The Taiwan Puberty Longitudinal Study cohort, including male and female adolescent aged 6-17 (N = 1036) who were examined at both baseline and follow-up clinic visits. Main Outcome Measures: The effects of regular lifestyle practices (sun soaking, exercise habit, jumping rope, milk intake and sleep duration) on changes in height measurements. Participants will be stratified by either low or high genetic risk score. Results: Among lifestyle practices, sleep duration was significantly associated with growth velocity. Sleeping hours ranging between 7-8 hours per night were linked with a greatest growth. This relation was mainly driven by differences in males and was more obvious during Tanner’s stage II-III. The positive association between sleep duration and growth velocity was driven by significance in participants with low genetic risk score but not in those with high genetic risk score. Meanwhile, milk intake of greater than or equal to one cup per day had a modest effect on height velocity in male during Tanner’s stage I. Conclusions: Sleep duration was associated with growth velocity, in which 7-8 hours per night was optimal. The benefit of adequate sleep was greater in individuals having low genetic risk score. Milk intake may have modest effect on growth velocity.
Presentation: Thursday, June 15, 2023
FRI599 Quality Of Life In Girls With Turner Syndrome Using The Quality Of Life In Short Stature Youth Questionnaire (QoLISSY) - A Cross-sectional Study
Authors: Vijayakanthi Nandini , Marcus David J , Fritz Sobha P , Xiang Yijin , Fadoju Doris Olukemi 
Published: October 2023

Abstract
Disclosure: N. Vijayakanthi: None. D.J. Marcus: None. S.P. Fritz: None. Y. Xiang: None. D.O. Fadoju: None.
Background: Short Stature is a common finding in girls with Turner syndrome (TS). Its impact on Quality of life (QoL) in adolescents/adults with TS have been studied using generic QoL questionnaires. Short stature specific QoL questionnaires have not been used to study the impact of short stature and GH therapy in TS in previous studies. Methods: In this cross-sectional study, we aimed to evaluate QoL and the association between GH therapy and height on QoL of adolescents using the short stature specific questionnaire -Quality of Life in Short Stature Youth (QoLISSY). QoLISSY was designed specifically to assess QoL in short stature children with scales for both parents and children which assesses 3 core QOL dimensions: physical, social, emotional and 3 predictors of quality of life: Coping, Beliefs and Treatment (GH therapy). It has not been previously used in TS. Results: Of the 41 eligible patients, 37 patients were enrolled in the study. The mean age of our cohort was 16.3 ±1.3 years and the average final adult height was 145.03 ± 7.3 cm. About 70% of the patients received GH therapy and 80% received estrogen therapy. Compared to the reference short stature mean values, our TS cohort had comparable scores in all QoL subscales and total scores in both parent and patient reports apart from the parental report treatment subscale which was significantly lower than their respective reference short stature means [Mean ± SD: 47.43±27.13 vs 58.82±16.75; p=0.03]. Girls with height &gt;-3SD had significantly lower score in the coping subscale, compared to the &lt;-2SD height group [Mean ± SD: 42.14 ± 19.04 vs 62.25 ± 16.60; p= 0.024; multivariate analysis: p=0.012. In the parent report, the social subscale was significantly lower in the &gt; -3SD height group compared to the &lt;-2SD height group [Mean ± SD: 57.59 ± 22.25 vs 80.94 ± 11.26; p=0.022; multivariate analysis: p=0.024]. There was no statistically significant difference in the QOL between the GH vs no GH groups. Conclusion: We conclude that the QoL in girls with TS was comparable to the reference short stature population. GH therapy did not improve the QoL in girls with TS in our cohort. Height does not appear correlate with the overall QoL in girls with TS though they have some coping and social difficulties. We recommend psychological counseling and support for girls with TS especially to address their coping and social difficulties.
Presentation: Friday, June 16, 2023
FRI400 A Rare Case Of Acute Sheehan's Syndrome In An Antepartum Patient
Authors: Jalal Erica , Baldwin Chelsey 
Published: October 2023

Abstract
Disclosure: E. Jalal: None. C. Baldwin: None.
Sheehan’s syndrome (SS) is a known complication of postpartum hemorrhage. It is typically diagnosed several years after birth given slow symptom onset related to hypopituitarism. We report a rare case of life-threatening antepartum pituitary ischemia secondary to hypotension, representing an acute presentation of SS. A 19-year-old primigravid woman at 31 weeks of gestation was admitted to the intensive care unit for septic shock secondary to Klebsiella pneumoniae pyelonephritis. Despite appropriate treatment, persistent hypotension prevented weaning of vasopressor support. Due to concurrent mild hyponatremia, the following studies were obtained: morning cortisol (2.46 mcg/dL [4.5-23 mcg/dL]), thyroid stimulating hormone (TSH) (0.379 IU/L [0.47-4.7 IU/L]), free triiodothyronine (2.1 pg/mL [2.8-5.3 pg/mL]), and free thyroxine (0.77 ng/dL [0.7-1.8 ng/dL]). Endocrinology was consulted for evaluation of adrenal insufficiency and abnormal thyroid function tests. Her prolactin was measured at 10.3 ng/mL, far below the expected range in a 3rd trimester pregnancy (35-600 ng/mL). Her remaining anterior pituitary hormone panel was unremarkable. MRI brain without contrast showed no evidence of an acute stroke or hemorrhage and commented that the prominence of the pituitary gland was likely related to current pregnancy. Stress dose hydrocortisone 100mg thrice daily and levothyroxine 50 mcg daily were initiated, allowing for weaning of vasopressor support. By discharge, she was titrated to levothyroxine 75mcg daily and hydrocortisone 20mg in the morning and 5mg in the afternoon. Repeat outpatient pituitary function testing found increase of prolactin to 397 ng/mL (35-600 ng/mL) and of IGF-1 to 486 ng/mL (113-408 ng/mL) as well as normalization of TSH to 3.210 (0.45-4.5IU/L), indicating likely recovery of pituitary axis. When readmitted at 38 weeks gestation for scheduled induction, she was given stress dose hydrocortisone 100mcg for labor. On discharge, she was tapered to prednisone 10mg daily and levothyroxine 50mcg daily. Appropriate hormone replacement and stress dose hydrocortisone resulted in an uncomplicated delivery and signs of clinical pituitary recovery postpartum as she was able to breastfeed without need for supplementation and maintain normotension after self-discontinuing prednisone and levothyroxine. The leading diagnosis to explain this patient’s hypopituitarism is acute SS, which is defined as symptom onset within 6 weeks postpartum. In our case, septic shock caused an abrupt onset of persistent hypotension leading to hormone levels suggestive of panhypopituitarism while the patient was pregnant at 31 weeks of gestation, which has not been reported in prior literature. While known as a chronic diagnosis in the postpartum population, further research should explore possible stunning effect of acute hypotension manifesting as acute SS in peripartum patients.
Presentation: Friday, June 16, 2023
FRI452 A Rare Case of Klinefelter Syndrome, 48XXYY
Authors: Kachhadia Palak , Khan Shaza , Aldasouqi Saleh , Limon Ahmad Abu 
Published: October 2023

Abstract
Disclosure: P. Kachhadia: None. S. Khan: None. S. Aldasouqi: None. A. Abu Limon: None.
Introduction: Klinefelter Syndrome (KS), 47XXY, is the most commonly seen chromosomal abnormality causing infertility, or primary hypogonadism. Other chromosomal variants are rare. We present a very rare case of nondisjunction of the sex chromosome resulting in a 48XXYY KS variant. Case Presentation: The patient is a 45-year-old male was referred to our clinic for evaluation of early onset osteoporosis. The patient was accompanied by his sister, given his cognitive delay. On initial physical exam, there was a concern about acromegaly with signs of frontal bossing, increased hand size, increased ring size and increased shoe size. More recent pictures of the patient showed significant changes in his facial appearance from few years prior. Other symptoms included night sweats. Physical exam revealed decreased testicular volume (less than 3mL bilaterally). Pituitary labs showed elevated prolactin, elevated LH, FSH and low free and total testosterone. GH, IGF-1 levels were within normal range. Chromosomal analysis showed an unexpected pattern of 48XXYY. In addition, MRI of the pituitary was done which showed increased infundibular stalk and increase in size of the pituitary gland which was thought to be secondary to pituitary microadenoma. DEXA scan confirmed osteoporosis. Patient was treated with testosterone injections and alendronate. The rationale for alendronate therapy was considered as a bridge to prevent fractures while the bone density would expectedly improve with androgen therapy, over time. Discussion: Although KS is commonly seen at a frequency of 1:500-1:1000 males, less common and variable phenotypical presentations can occur and can lead to a delayed diagnosis. The reason for the delay of diagnosis in these rare KS variants is the cognitive impairment which leads to delayed evaluation of fertility or hypogonadism, as contrasted to patients with the common variant, KS 47XXY. Additionally, unlike the classic KS variant, these rare variants are often associated with learning disabilities and gross bony features. Conclusion: Clinicians should be familiar with different clinical presentations of the less common KS genetic variants, in contrast to classical KS variants. Patients with classical KS typically present early in view of recognizable complaints of infertility, while patients with the less common KS variants may not present early on due to cognitive delay. Thus, familiarity with the additional manifestations of the less common KS variants (e.g., gross bony features) can help clinicians to suspect the possibility of these variants, prompting chromosomal analysis for further evaluation in such patients.
Presentation Date: Friday, June 16, 2023
SAT010 Role Of Glucocorticoids In Induction Of Autophagy During Fetal Lung Development
Authors: Mishra Ritu , Mendelson Carole R 
Published: October 2023

Abstract
Disclosure: R. Mishra: None.
Development of the fetal lung and production of pulmonary surfactant is a complex process that involves crosstalk between the mesenchyme and epithelium, branching morphogenesis, thinning of the bronchi alveolar ducts and alveolar septa, differentiation of alveolar type II cells, increased synthesis of surfactant lipids and proteins and their trafficking to lamellar bodies (LBs). The regulation of these processes is incompletely understood. Autophagy has recently been shown to be critical for lung morphogenesis and lamellar body biogenesis. In studies of global and lung epithelial cell-specific knockout of a number of autophagy-related genes in mice, there was found to be neonatal respiratory distress and lethality at birth. Interestingly, the lung phenotype of mice with an epithelial cell-specific knockout of the autophagy gene, Beclin 1 (Becn1), was very similar to that of mice with a targeted deletion of the glucocorticoid receptor (GR) gene (GRKO). Moreover, this phenotype was also observed in mice double-deficient in steroid receptor coactivators (Src)-1 and 2 (Src-1/-2dKO), which serve an essential role in GR transcriptional activity in fetal lung. Therefore we were interested to determine whether GCs acting through the GR regulate autophagy gene expression in fetal lung. In preliminary studies, we made the exciting discovery that nuclear levels of phospho (p)-GRS220 increased markedly in mouse fetal lung (MFL) at 16.5 dpc (compared to 15.5 dpc) and continued to increase toward term (18.5 dpc). Importantly, nuclear levels of total GR remained unchanged from 15.5 -18.5 dpc. Moreover, we observed that treatment of cultured MFL epithelial cells with the synthetic glucocorticoid, dexamethasone (Dex), upregulated expression of the autophagy genes, Becn1, Atg7 and Lc3b. Dex Induction of autophagy genes was prevented by co-incubation with the potent small-molecule inhibitor, SI-2, which selectively reduces cellular protein levels of the SRC family of GR coactivators. The importance of SRC-1 and SRC-2 in the regulation of autophagy gene expression is further emphasized by our finding that Becn1 and Atg7 expression was significantly reduced in lungs of Src-1/-2 dKO fetal mice at term. Previously, we found that glucocorticoids increase expression of transcription factor, C/EBPβ in an SRC-1/SRC-2-dependent manner which further upregulates C/EBPα in MFL epithelial cells. In ChIP-qPCR studies, we observed an increased binding of p- GRS220 and C/EBPα to the promoter regions of autophagy genes in MFL with advancing gestation. We also observed that siRNA-mediated knockdown of C/EBPα prevented Dex induction of autophagy gene expression. These exciting collective findings suggest that glucocorticoids together with SRC-1 and SRC-2 enhance autophagic flux in fetal lung via the C/EBP signaling pathway.
Presentation: Saturday, June 17, 2023
FRI505 A Rare Case Of Methimazole Induced Grave Agranulocytosis
Authors: Barua Nabonita , Idriss Setana , Panta Raju , Jamal Issra , Hodge Jordesha 
Published: October 2023

Abstract
Disclosure: N. Barua: None. S. Idriss: None. R. Panta: None. I. Jamal: None. J. Hodge: None.
Introduction: Agranulocytosis is a rare side effect of methimazole that usually occurs in a dose-dependent fashion within the first 3 to 6 months of initiation. It occurs in 0.2 - 0.5% of patients with Graves' disease who receive treatment with antithyroid drugs (ATD). We describe a rare case of agranulocytosis in a 36-year-old female treated with methimazole for hyperthyroidism. Case: A 36-year-old female, who was diagnosed with Graves' disease 2 months prior, presented to the Emergency Department for evaluation of worsening sore throat, odynophagia, dysphagia, and fever for 12 days after failed outpatient treatment with amoxicillin. Pre-admission labs showed free T4 &gt; 7.77ng/dl, TSH &lt;0.01 mIU/L, thyrotropin receptor antibody elevated at 28.30. She was initially treated with methimazole 10mg TID then reduced to BID few weeks prior to hospitalization. On arrival, her temperature was 102.8 F, heart rate 120 bpm, and blood pressure 116/65 mmHg. On physical exam, she had thyromegaly and discomfort on palpation of the neck. Labs showed WBC of 0.6k/mm3, absolute neutrophil count (ANC) of 0, Hgb 11.1 g/dl, TSH &lt;0.01 mIU/L, Free T4 3.11 ng/dL and free T3 6.7 pg/ml. CT neck with contrast revealed tonsillitis and epiglottitis with associated tonsillar and peritonsillar abscess. She was started on Vancomycin, Cefepime and Acyclovir for 7 days; and Fluconazole 14 days for epiglottitis, tonsillitis, HSV, and oral candidiasis. Methimazole was discontinued, and she was started on cholestyramine 4 gm 6 hourly, dexamethasone 2 mg IV 8 hourly and propranolol 20 mg 8 hourly with improvement of her free T4 from 3.11-2.93. Her free T3 worsened from 8.1 to 11.1, potassium iodide 50 mg 6 hourly was added to the regimen. After 10 days of treatment, her thyroid blood tests and ANC improved, and she was discharged. She underwent total thyroidectomy 2 weeks after discharge and was placed on levothyroxine 75 mcg daily. Conclusion: Agranulocytosis from ATDs has a remarkably high mortality rate of about 21.5%. The mechanism behind is both immune-mediated toxicity and direct toxicity from oxidative process mediated by myeloperoxidase and cytochrome P450 enzymes. Agranulocytosis caused by ATD is usually dose dependent and mostly present with significant hyperthyroid state. Alternative ways of treatment should be promptly initiated as cross-reaction between methimazole and propylthiouracil occurs in about 15.2% of cases. Patient education about this dreadful side effect and awareness about seeking immediate medical attention at symptom onset is key in successful remediation of this condition.
Presentation: Friday, June 16, 2023