bluuebunny/crossref_metadata_2025_split huggingface dataset:
FRI352 Diabetes Insipidus With Hypokalemia In A 30 Week Pregnant Female
Authors: Stanfield Caleb Benjamin 
Published: October 2023

Abstract
Disclosure: C.B. Stanfield: None.
In this case, we will discuss a 29 year old G4P0121 African American female at 30 weeks gestation presented to women’s urgent care for nausea, vomiting and diarrhea after starting magnesium supplementation for incidentally diagnosed hypokalemia around 4 weeks prior. Vitals were significant for a BP of 133/60 and HR 110. Laboratory studies were significant for potassium of 3 mmol/L, sodium 155 mmol/L, magnesium 2.2mmol/L, AST 104, ALT 62 and UA with 2+ proteinuria. Patient admitted to the OBGYN service for preeclampsia with severe features. Patient was noted to have over 16L UOP over the first 24 hours of admission; 4.5L intake. Further labs obtained showed hemoglobin A1C of 4.9, serum osmolality of 308 mOsm/kg, urine osmolality 77 mOsm/kg and urine specific gravity 1.002. DDAVP was given with urine osmolality increasing from 77 to 137 mmol/L. Working differential diagnoses included gestational diabetes insipidus (DI), central DI or nephrogenic DI due to hypokalemia. Co-peptin assay was drawn; is a send out at our institution. Of note, the patient had no known history of brain injury, surgery, radiation or Sheehan Syndrome. However her previous pregnancies had been complicated by hypokalemia, hypertension and pre-eclampsia with emergent cesarean-section. She subsequently underwent emergency cesarean-section on hospital day 2 for non-reassuring fetal activity with delivery of viable 1230g male. After delivery, the patients hypokalemia resolved. Post-op, DDAVP for 3 days was continued per hospital DI protocol with appropriate response. Co-peptin resulted at 22.3, excluding central DI as a diagnosis. On time of discharge, patient had gone without DDAVP for &gt;48 hours with intact thirst mechanism. Given improvement/resolution of DI and persistently low urine osmolality even after DDAVP administration prior to delivery, the DI was believed to be gestational with a component of nephrogenic DI as well due to hypokalemia. Gestational DI occurs due to increased placental vasopressinase which degrades the antidiuretic hormone (ADH). It is associated with pre-eclampsia, acute fatty liver of pregnancy and HELLP syndrome. DDAVP is a modified synthetic analog of endogenous ADH and is resistant to breakdown by placental vasopressinase and can be used to treat gestational DI. Definitive management is achieved with delivery of the fetus and can last up to six weeks after delivery.
Presentation: Friday, June 16, 2023
THU161 The Characteristics Of DNA Methylation Pattern In Children Born Small For Gestational Age Who Failed To Catch-up Growth
Authors: Kang Min Jae , Kwon Eun Byul , Hwang Il Tae 
Published: October 2023

Abstract
Disclosure: M. Kang: None. E. Kwon: None. I. Hwang: None.
Introduction: DNA methylation is one of major mechanisms of epigenetic mutation. Differentially methylated regions (DMRs) are found in various imprinting disorders. In this pilot study, we aimed to analyze DNA methylation pattern of short stature children born small for gestational age (SGA-SS). Method: SGA-SS subjects were included when all the following criteria were met: birth weight ≤ 3 percentile; height z-score after age 4 ≤ -1.881 (3 percentile); both parental heights &gt; -1.881 (3 percentile). When the age of subjects were 4.0-7.5 years, they were sorted into SGA-SS group 1 (n=17). Normal control (NC) was age- and sex-matched to SGA-SS group 1 (n=11). NC subjects were normal birth weight (&gt;10 percentile) and normal stature (&gt; 10 percentile). When the height z-score after age 4&lt;-2.5, they were sorted into SGA-SS group 2. DNA methylation patterns of IGF2, H19, PLAG1, MEG3, MEST, SGCE-PEG10, KvDMR genes were performed by pyrosequencing. Result: Mean birth weight and height z-score of NC was 3.3 kg and 0.60, respectively. Mean birth weight SDS and height z-score of SGA-SS group 1 was -2.37 and -2.08, respectively. Mean birth weight SDS and height z-score of SGA-SS group 2 was -2.60 and -2.98, respectively and birth weight was not significantly different compared to that of SGA-SS group 1. Mean DNA methylation levels of IGF2/H19/PLAG1/MEG3/MEST/SGCE-PEG10/KvDMR gene were 58.0/46.8/44.4/55.0/53.2/45.4/48.7%, 55.1/38.2/45.6/53.1/50.6/42.8/47.1%, and 54.4/42.7/45.0/53.6/51.8/44.7/46.3 % in NC, SGA-SS group 1, and SGA-SS group 2, respectively. DNA methylation levels of SGA-SS group 1 were decreased in IGF2 (P=0.027), MEST (P&lt;0.001) compared to those of NC. There was difference of DNA methylation levels of MEST between SGA-SS group 1 and SGA-SS group 2 (P=0.013). Conclusion: DNA methylation levels of SGA-SS groups were different in several candidate genes related to fetal growth compared to those of NC. Although the mechanism of epigenetic mutation is diverse, DNA methylation pattern may have the role in pathophysiology and heterogeneity in SGA children.
Presentation: Thursday, June 15, 2023
THU186 A Case Of 3beta-hydroxysteroid Dehydrogenase Type2 Deficiency Diagnosed By Whole Genome Sequencing In A Patient With Congenital Adrenal Hyperplasia
Authors: Chang Seong Hwan , Kim Chan Jong 
Published: October 2023

Abstract
Disclosure: S. Chang: None. C. Kim: None.
3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) is a very rare type of congenital adrenal hyperplasia (CAH) caused by HSD3B2 gene mutations. The estimated prevalence is less than 0.5% of all CAH and less than 1/1,000,000 at birth. It is a disorder of impaired steroidogenesis and sex steroid deficiency characterized by variable degrees of salt wasting, hypoglycemia, male incomplete masculinization and female virilization. Some newborns with 3βHSD2D have increased level of 17-hydroxyprogesterone (17OHP) that clinicians misdiagnose them as having classic 21-hydroxylase deficiency. A male newborn was referred to our hospital for generalized hyperpigmentation. Laboratory test showed hyponatremia, hyperkalemia and hypoglycemia. Hormonal study showed high level of adrenocorticotropic hormone, 17OHP, progesterone, renin activity, dehydroepiandrosterone (DHEA), androstenedione and low level of aldosterone. Clinically diagnosing with CAH, we administered glucocorticoid and mineralocorticoid replacement. We performed PCR sequencing for CYP21A2 gene mutation to confirm 21 hydroxylase deficiency but revealed normal result. After follow-up for 17 years with replacement treatment, he happened to have the opportunity to perform whole genome sequencing. Whole genome sequencing allowed to detect two pathogenic mutations in the HSD3B2 gene, described in compound heterozygosity (p.Arg249Ter and c.-149_143-1766del). One mutation (c.-149_143-1766del) is inherited from his father and the mother was not done for gene study. While there have been less than 100 cases of 3βHSD2D reported worldwide, in our best knowledge, this is the first case of genetically confirmed 3βHSD2D in Korea.
Presentation: Thursday, June 15, 2023
THU197 Peripheral Precocious Puberty In A 6-year-old Girl With Extreme Estradiol Elevation With Rapid Normalization: A Case Report
Authors: Meller Leo , Marinkovic Maja , Elizabeth Mary 
Published: October 2023

Abstract
Disclosure: L. Meller: None. M. Marinkovic: None. M.E. Patterson: None.
Background: Peripheral precocious puberty (PPP) in girls is typically associated with ovarian or adrenal tumors, ovarian cysts, McCune-Albright syndrome (MAS), or exogenous hormone exposure. We present an unusual case of PPP with extreme estradiol elevation and rapid normalization. Clinical Case: A 6.5-year-old previously healthy girl presented with two-month history of bilateral breast growth and tenderness, associated with daily cramping. Subsequently, she developed clear, odorless vaginal discharge. Two days prior to the visit she started light vaginal bleeding. Parents denied any medication intake or use of lavender or essential oils. She had no family history of early puberty. On the exam, she was tall for her age (95%) with a recent growth spurt. She had breast buds (Tanner 2) and vaginal bleeding without pubic hair (Tanner 1) or signs of hyperandrogenemia. There were no skin lesions or gross bone abnormalities. Bone age was equal to chronological age. She had an extreme elevation of estradiol of 156pg/mL and 170pg/mL (reference range&lt;=16pg/mL) measured two weeks apart with prepubertal LH/FSH. Thyroid tests were normal. Pelvic ultrasound and abdomen/pelvis CT showed no abnormalities of ovaries and adrenal glands. Nine days after the onset, vaginal bleeding and cramping spontaneously resolved. Estradiol levels measured two days after cessation of vaginal bleeding normalized (7pg/mL) while LH/FSH remained prepubertal. Interestingly, two weeks after the bleeding stopped her pelvic ultrasound showed significantly enlarged ovaries (R 4.1mL, L 4.3mL), while her estradiol remained normal (5pg/mL). Conclusion: We describe an unusual presentation of PPP in a young girl with extreme estradiol elevation causing simultaneous premature breast development and vaginal bleeding. We suspect PPP was secondary to ruptured ovarian cyst that was not captured by imaging. Other differentials include MAS, exogenous hormone exposure, adrenal or ovarian tumors. These were unlikely due to lack of abnormal skin or bone findings, environmental hormone exposure and normal imaging. Her ovarian enlargement could be secondary to high endogenous estrogen exposure, and she may be at risk of developing central precocious puberty. This unique case emphasizes the importance of prompt assessment of children with precocious puberty and discusses the differential diagnosis process for PPP with markedly elevated estradiol with rapid normalization.
Presentation: Thursday, June 15, 2023
THU198 Peripheral Precocious Puberty In Girls Due To Ovarian Cyst
Authors: Lee Hae Sang , Hwang Jin Soon , Shim Young Suk , Heo Seung 
Published: October 2023

Abstract
Disclosure: H. Lee: None. J. Hwang: None. Y. Shim: None. S. Heo: None.
Objective: Peripheral precocious puberty (PPP) is precocious development of secondary sexual characteristics caused by mechanisms that do not involve activation of pulsatile GnRH secretion. PPP in girl is less frequent than central precocious puberty (CPP). it is caused by various disease such as gonadal and adrenal tumors, ovarian cysts, hypothyroidism and exposure to exogenous sex steroids. In particular, discordant pubertal development with vaginal bleeding within one year of breast development suggests hyperestrogenic state, and may be caused by autonomous ovarian cysts, McCune-Albright syndrome (MAS) and hypothyroidism. We aimed to investigate clinical characteristics and long-term clinical course of PPP in girls with ovarian cyst. Methods: This study was conducted through a retrospective medical record analysis. We studied 12 patients who were diagnosed with PPP due to ovarian cyst after pelvic sonography from January 2003 to May 2022. Patients were examined for pelvic sonography when there was vaginal bleeding and/or nipple pigmentation in PPP. pelvic sonography findings, clinical characteristics, management and prognosis of patients with ovarian cysts were investigated. Results: Ten out of 12 cases had vaginal bleeding and the 3 cases had nipple pigmentation. E2 was elevated to median value 36 pg/mL ([IQR], 19-61). There was a total of 18 episodes of ovarian cyst including recurrence. The median size of cyst was 28 mm ([IQR], 24- 34). Surgical management was performed in one patient with large cyst of 70 mm. Aromatase inhibitor was used in three cases. Follow-up pelvic sonography was performed to confirm regression of ovarian cyst. Median time to regression of ovarian cyst was 6 months ([IQR], 3-9). Five cases were diagnosed with MAS. Later, In 4 out of 12 cases were progressed to CPP and cyst was recurred more than 2 episodes in 3 cases. Median total follow-up duration of cases was 2.5 years ([IQR], 0.9-5.3). Conclusion: Most of ovarian cysts in PPP disappear spontaneously. However, It may appear as a one of findings with MAS or can progress to CPP in recurrent case. Therefore, careful follow-up is necessary in ovarian cysts of PPP.
Presentation: Thursday, June 15, 2023
THU216 The Influence Of Age At Diagnosis On Clinical Presentation And Prognosis Of Childhood-onset Craniopharyngioma
Authors: Beckhaus Julia , Friedrich Carsten , Boekhoff Svenja , Calaminus Gabriele , Bison Brigitte , Eveslage Maria , Timmermann Beate , Flitsch Joerg , Muller Hermann Lothar 
Published: October 2023

Abstract
Disclosure: J. Beckhaus: None. C. Friedrich: None. S. Boekhoff: None. G. Calaminus: None. B. Bison: None. M. Eveslage: None. B. Timmermann: None. J. Flitsch: None. H.L. Muller: None.
The association between age at diagnosis (AaD) and clinical presentation and prognosis of pediatric patients with craniopharyngioma (CP) is not clear. Seven hundred and nine patients diagnosed with adamantinomatous CP have been recruited between 1999 and 2021 in HIT-ENDO, KRANIOPHARYNGEOM 2000/2007, KRANIOPHARYNGEOM Registry 2019 and prospectively observed. In our cohort study, we analyzed clinical presentation and outcome in these CP patients with regard to different AaD: Infants and toddlers (under 2 years), early childhood (2-6 years), middle childhood (6-12 years), and early adolescence (12-18 years). Following a median follow-up of 8.4 years, functional capacity (FMH), overall and event-free survival (EFS), and quality of life (QoL) (PEDQOL) were evaluated. 45.4% of the patients presented with severe obesity (BMI &gt; 3SDS) at last visit. Children with AaD &lt;6y showed lower EFS but higher QoL than children with AaD &gt;6y. Reduced functional capacity (FMH) percentiles were linked to higher BMI-SDS at last visit (rho=-0.125, 95% CI [-0.21; -0.04]). Posterior hypothalamic involvement and surgical lesion were independent risk factors for both, severe obesity at last visit (OR=2.94, 95% CI [1.73;5.08]) and events (HR=1.59, 95% CI [1.12;2.26]). In the PEDQOL body image domain, patients with posterior hypothalamic involvement and lesion report lower scores. Nearly half of all patients suffer from sequelae of severe obesity and the hypothalamic syndrome. A diagnosis of CP before the age of 6 years may enable patients to adjust to their limitations earlier, but it may also increase the risk of relapse. The cause of severe obesity and a lower QoL is not AaD but posterior hypothalamic involvement of CP.
Presentation: Thursday, June 15, 2023
THU221 Measurements Of Head Circumference During Developmental Monitoring Visits Before Diagnosis Of Pediatric Craniopharyngioma
Authors: Beckhaus Julia , Boekhoff Svenja , Krieger Leonie , Peng Junxiang , Friedrich Carsten , Muller Hermann Lothar 
Published: October 2023

Abstract
Disclosure: J. Beckhaus: None. S. Boekhoff: None. L. Krieger: None. J. Peng: None. C. Friedrich: None. H.L. Muller: None.
Craniopharyngiomas (CP) are congenital, benign, embryonic malformations which arise from ectoblastic remnants of Rathke’s pouch and are located in the (supra-)sellar region. Many patients show a reduced growth rate and an increased BMI early before the diagnosis of CP. However, it is unknown whether patients with CP present with increased head circumference before diagnosis. A cohort of 83 patients was screened for medical records of their developmental monitoring visits. We observed, that CP patients with hypothalamic involvement of their tumor tend to have an increased head circumference SDS before CP diagnosis. When comparing head circumference SDS before diagnosis at defined time points between birth and four years of age, all head circumferences were in the upper normal range. However, no statistically noticeable differences were found between hypothalamic involvement and no hypothalamic involvement of the tumor. Congenital embryonic malformations such as CP located in the parasellar area can have impact on cerebrospinal fluid circulation and lead higher head circumferences due to hydrocephalus early before diagnosis. Our results show, that head circumference SDS could be an effective early-indicator for CP. A standardized procedure for head circumference measurements during developmental monitoring visits should be implemented in clinical care. We anticipate that our study is the starting point for prospective studies with larger sample size to assess the potential predictive value of head circumference measurements for an early CP diagnosis.
Presentation: Thursday, June 15, 2023
THU224 Is Chronic Lymphocytic Thyroiditis Associated With Aggressive Differentiated Thyroid Cancer In A Predominantly Hispanic Pediatric Population?
Authors: Solano Natalia , Baboun Daniela , Martinez-Sanchez Andrea , Diaz Alejandro , Carrillo-Iregui Adriana , Alkhoury Fuad 
Published: October 2023

Abstract
Disclosure: N. Solano: None. D. Baboun: None. A. Martinez-Sanchez: None. A. Diaz: None. A. Carrillo-Iregui: None. F. Alkhoury: None.
Background: The risk of developing papillary thyroid carcinoma (PTC) appears to be increased among patients with chronic lymphocytic thyroiditis (CLT). Studies in adults have shown that the presence of CLT is associated with less aggressive PTC; however, this correlation is unclear in pediatric patients. Objective: The purpose of this study is to determine a possible correlation between CLT and markers of aggression severity using histopathological findings, tumor size, and lymph node involvement among patients with differentiated thyroid carcinoma (DTC) in a free-standing children’s hospital with a predominantly Hispanic population. Methods: Upon Institutional Review Board approval, we performed a retrospective chart review from 2012-2022 of 55 patients with a final diagnosis of DTC. We analyzed the correlation between CLT and histopathological findings. Statistical analysis was performed by using t-tests and chi-squared tests. Results: The patients reviewed were between 8-20 years of age. Forty-nine (89.1%) patients identified as Hispanic, and 41 (74.6%) were females. Twenty-five (45.5%) patients had a diagnosis of CLT; 19 (76.0%) of these patients had classic PTC, 3 (12.0%) had the follicular variant of PTC, and 3 (12.00%) had another variant of PTC. Of the 30 (54.5%) patients who did not have CLT, 13 (43.3%) had the classic variant of PTC, 10 (33.3%) had the follicular variant of PTC, and 7 (23.3%) had another variant of PTC. The distribution of the histopathological findings was significant (p=.048). Patients with CLT had significantly smaller tumor sizes (1.8 vs. 2.5 cm, respectively [p=.048]). Of the 36 patients with lymph node involvement, 20 (55.6%) had CLT. Of the 19 patients without lymph node involvement, 5 (26.3%) had CLT. The association between the presence of CLT and lymph node involvement was significant (p=.038). Conclusions: In our population, patients with CLT had a significantly higher presence of the classic variant of PTC. Studies in adults have shown a tendency of these lesions to have a higher risk of disease than those with the follicular variant. Patients with CLT had a smaller tumor size, likely as a result of earlier detection of thyroid nodules due to frequent clinical evaluations and thyroid ultrasounds. However, patients with CLT tended to have a higher frequency of lymph node involvement. More studies with pediatric populations are needed to clarify the possible association between CLT and DTC.
Presentation: Thursday, June 15, 2023
THU231 Thyroid Function And Childhood Bone Mineral Density: Abnormal Thyrotropin Concentration May Be Another Predictor Of Pediatric Low Bone Mass
Authors: Ahn Moon Bae 
Published: October 2023

Abstract
Disclosure: M. Ahn: None.
Backgrounds: Thyroid hormone (TH) whose synthesis and secretion are mainly regulated by thyrotropin (TSH) play a critical role in the metabolism, growth, and development of human body. While TH is responsible for normal growth and differentiation of various organs, bone is known to be one of the major endocrine organs affected by the regulation of TH. Low bone mass or osteoporosis of child and adolescents can occur in numerous chronic conditions, however the influence of abnormal TH and TSH on low bone mineral density (BMD) of children and adolescents remains controversial. Investigating the effect of excessive or deficient TH and TSH on childhood BMD may unveil a better understanding of uncertain role of thyroid function in bone density of pediatric population. Objective: To elucidate the connection between thyroid function and childhood low bone mass. Methods: Serum T3, FT4 and TSH of 619 children aged between 10 to 18 years and previously diagnosed with hemato-oncologic, rheumatoid, gastrointestinal, endocrine conditions whose treatment was completed were assessed simultaneously with mineral density of lumbar spine and femur measured by dual energy x-ray absorptiometry. Serum T3, FT4, and TSH were subcategorized as either high/normal/low or normal/abnormal group with respect to age-matched reference range, then LSBMD data were compared. Comparison, correlation and regression analyses were performed to examine the association between the abnormality of thyroid function and low BMD. Results: Mean LSBMD z-scores of 619 children and adolescents were 0.49±1.28 and those who were less than -1.0 accounted for 37.7 % while serum T3, FT4, and TSH levels were 1.25±0.29 ng/mL, 1.28±0.19 ng/dL, and 2.76±1.87 µU/mL, respectively. Both lumbar and femoral BMD z-scores were not significantly different in between subjects with either abnormal or normal serum T3 and FT4, however were lower in children with abnormal serum TSH. LSBMD (g/cm2) was negatively correlated with serum T3 whereas its z-scores showed no correlation with any of serum T3, FT4 and TSH. In linear regression, BMI z-scores were positively associated whereas serum T3, FT4, TSH were not directly associated with LSMBD z-scores. When the abnormality of T3, FT4, and TSH was considered as determinants for decreasing LSBMD z-scores, TSH abnormality was a significant risk factor having highest odds ratio as LSBMD z-scores decreased. Conclusion: Although serum T3, FT4, and TSH did not show a direct correlation with childhood LSBMD z-scores, abnormal TSH concentration could predict low LSBMD z-scores, therefore indicate low bone mass of children with various underlying conditions.
Presentation: Thursday, June 15, 2023