bluuebunny/crossref_metadata_2025_split huggingface dataset:
PSUN235 Dopamine-induced polyuria
Authors: Dejhansathit Siroj , Patel Anupa 
Published: November 2022

Abstract

Background
Dopamine acts on dopamine-1 receptors in the renal vasculature at a low dose, resulting in natriuresis and diuresis. Polyuria is a rare condition found in patients who receive dopamine infusion. We report a young female hospitalized for ovarian torsion who underwent several surgical procedures had been infected with gram-negative bacteremia. She received a dopamine infusion for hypotension with relative bradycardia. Subsequently, she developed polyuria.

Case presentation
A 25-year-old female was referred to UMC hospital for acute diverticulitis with micro-perforation from the sigmoid colon. She presented to the outside hospital with abdominal pain, fever, nausea, and vomiting for four days. On arrival, she had a fever of 101.9F. Initial laboratory showed leukocytosis and lactic acidosis. CT abdomen at UMC revealed 16×11cm mass in the left lower quadrant, potentially originating from the left ovary. The patient was treated with IV Zosyn for acute diverticulitis. On day 5 of admission patient remained to have abdominal pain, fever, and worsening lactic acidosis. She was taken to OR for exploratory laparotomy with dissection of left salpingo-oophorectomy for torsion of adnexal mass resection. On day 91 of admission, the patient developed low-grade fever (100.7F) and hypotension (BP 63/30) with the MAP of 40. IV NS 1L was administered. CT abdomen revealed no intra-abdominal or pelvic abscess or fluid collection. For possible septic shock, the patient was started on empirical IV antibiotics. Despite IV fluid resuscitation, blood pressure remained low, vasopressin and norepinephrine were initiated. Day 92, she developed new-onset bradycardia, EKG showed third-degree AV block. IV dopamine infusion was started at the rate of 5mcg/kg/min. During dopamine infusion, the patient voided between 400-600mL/h. Over the 12-h period, the urine output was about 5L. Endocrinology was consulted for polyuria. Laboratory studies showed urine osmolality 384mOsm/kg, urine electrolytes were UNa 130mmol/L, UK 20.1mmol/L, UCl 115mmol/L, BUN/Cr 28/1.0.
Approaching polyuria, the diuresis was associated with high urine osmolality and sodium, which exhibited characteristic features of solute diuresis with natriuresis. The diuretic phase of acute renal injury could not be implicated in this patient since she has stable renal function without azotemia. There was no evidence of urinary tract obstruction to suggest post obstruction diuresis. Central or peripheral diabetes insipidus was ruled out by the lack of characteristic water diuresis. It was suspected that the diuresis was related to the dopamine infusion. Thus, dopamine infusion was discontinued. The urine output dropped within a few hours. The patient's urine output stabilized to 0.8-1.0ml/min. The striking drop in urine output after discontinuity of dopamine is consistent with the role of dopamine in this patient's diuresis.

Conclusion
This is a rare case report of dopamine-induced polyuria in septic shock patient.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
LBMON199 Peripheral Blood Mononuclear Cell Mitochondria Function Differs In Adolescent Transgender Males By Gnrha Use
Authors: Fuller Kelly , Nokoff Natalie , Keller Amy , Staggs Syd , Cree-Green Melanie , Moreau Kerrie 
Published: November 2022

Abstract

Background
About 2% of youth in the United States identify as transgender, meaning their gender identity differs from sex at birth. The Endocrine Society recommends gonadotropin-releasing hormone agonist (GnRHa) therapy for eligible individuals starting at Tanner 2 to halt endogenous pubertal progression, and later testosterone or estradiol treatment. Studies in animals and cisgender adults have shown that sex hormones influence whole-body metabolism and mitochondrial function, but most of the literature has focused on sex differences and the impact of menopause in females. Little is known about the impact of puberty blockade and gender-affirming hormone therapy on metabolic health in transgender youth.

Methods
For this pilot study, transgender males (TGM) aged 14-17 were recruited (n=16) with an assessment prior to initiation of testosterone therapy. Measures of metabolic health (body mass index [BMI], weight, exercise capacity via peak oxygen uptake [VO2 peak]) and hormone status (use of GnRHa, circulating sex hormone levels) were collected. Peripheral blood mononuclear cells (PBMCs) were isolated from whole blood via density-gradient centrifugation and mitochondrial function (maximal respiratory capacity [States 2, 3, 3s, 4, uncoupled] and respiratory control ratio [RCR]) was measured via high-resolution respirometry under carbohydrate (CHO) and lipid substrates. Participants were stratified by GnRHa use for analysis.

Results
Eight TGM were on GnRHa (average duration of use of 25.3+13.1 months). As expected, individuals taking GnRHas had significantly lower luteinizing hormone (LH; p=0. 03), follicle stimulating hormone (FSH; p&lt;0. 01) and estradiol (p&lt;0. 01) compared to those not on GnRHa. BMI, body weight, and VO2 peak were not different by GnRHa status. PBMC respiration differed between groups; those on GnRHa had higher ADP-stimulated State 3 respiration (p=0.11 CHO, p=0. 06 lipid) and RCR (p&lt;0. 01 CHO, lipid) and lower basal State 4 respiration (p=0. 01 CHO, p=0. 01 lipid). Further, FSH and estradiol were negatively correlated with RCR (all p≤0. 05; Pearson's R -0.5 to -0.7), a finding consistent across both substrate experiments.

Conclusion
TGM youth on GnRHa had higher PBMC mitochondrial RCR compared to TGM not on GnRHa. These RCR data, combined with lower basal and greater ADP-stimulated respiration likely represents either an advantageous mitochondrial profile in youth using GnRHa or a compensatory increase in response to estrogen suppression. Our correlation data suggest these differences are related to the absence of estradiol and FSH rather than metabolic outcomes traditionally thought to impact respiratory capacity. Future interventional investigations are needed to evaluate the impact of GnRHa in transgender youth and should target physiological mechanisms underlying this preliminary finding.
Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
LBODP081 The Relationship Between Body Mass Index Changes And Bone Age Progression During Gonadotropin-releasing Hormone Agonist Treatment In Girls With Idiopathic Central Precocious Puberty
Authors: Kim Seulki , Shin Chungwoo , Choi Young J , Jang Min Jeong , Kim Sungeun , Ahn Moon Bae , Hee Kim Shin , Cho Won Kyung , Cho Kyung Soon , Jung Min H , Suh Byung-Kyu 
Published: November 2022

Abstract

Purpose
To analyze the relationship between body mass index change and bone age progression during gonadotropin-releasing hormone agonist(GnRHa) treatment in girls with idiopathic central precocious puberty Methods: 65 girls with idiopathic central precocious puberty who are treated with GnRHa more than 2 years were retrospectively reviewed. Height, weight, Tanner stage, bone age were measured every 6 months from the start of treatment. The degree of obesity was evaluated using the body mass index (BMI) standard deviation score (SDS), and the relationship between the change in obesity and the progression of bone age was analyzed. Overweight was defined as a BMI greater than or equal to the 85th percentile. The chronological age at the start and the end of treatment was 7. 00±0. 00 years and 10.63±0.50 years in the overweight group (16 patients), and 6.86±0.35 years and 10.71±0.54 years in the other group (49 patients), respectively.

Results
There was no difference in bone age between the normal weight group and the overweight group at the start of treatment (9.85±0.57 years vs 10. 04±0.73 years, P=0.263). Bone age was higher in the overweight group, but after 1 year of treatment, 2 years of treatment, and at the end of treatment, the overweight group had a higher bone age than the normal weight group (10.47±0.56 years vs 10.87±0.57 years, P=0. 02; 11. 06±0.47 years vs 11.46±0.51 years, P=0. 004; 11.70±0.46 years vs 12. 01±0.52 years, P=0. 03). Bone age at the end of treatment was related to overweight at the start of treatment (r=0.265, P=0. 03) and the increase in BMI SDS from normal to overweight during treatment (r=0.285, P=0. 02). There were 11 children (17%) whose BMI SDS increased from normal to overweight during treatment, compared with the other patients, there was no difference in bone age during 2 years of treatment, but bone age at the end of treatment was higher (12. 09±0.60 years vs 11.71±0.47 years, P=0. 02), and the difference in bone age before and after treatment was also greater (2.31±0.68 years vs 1.79±0.52 years, P=0. 01). Linear regression analysis demonstrated that the increase in BMI SDS from normal to overweight during treatment had a positive correlation with bone age at the end of treatment (β=0.31, R2=0. 07, P=0. 03).

Conclusion
In girls with central precocious puberty, an increase in obesity from normal to overweight during GnRHa treatment does not affect bone age progression until 2 years from the start of treatment, but might be a risk factor for bone age progression at the end of treatment.
Presentation: No date and time listed
LBODP083 Pharmacokinetics Of Metformin In Obese Non-diabetic Youth: Drug Clearance Increases With Severity Of Obesity
Authors: Halpin Kelsee , Hosey Chelsea , Paprocki Emily , De Luca Francesco , Yan Yun , Steven Leeder J 
Published: November 2022

Abstract

Background
Severe obesity and obesity-related conditions, such as prediabetes, are increasing in prevalence among pediatric populations. Metformin is an oral biguanide that is often used off label to treat obesity and prediabetes in youth. Despite increased prescribing in youth, there is limited knowledge about pharmacokinetics (PK) of metformin in pediatric populations, and no published data describing the effect of obesity severity on metformin PK.
Research Questions What is the variability of pharmacokinetic properties of immediate release metformin in obese, non-diabetic adolescents? Does severity of obesity impact these properties?

Methodology
Youth 12-17 years of age were included if they were obese with laboratory evidence of insulin resistance (HOMA-IR &gt; 3) or met ADA criteria for prediabetes and had a normal renal function (GFR &gt; 60 mL/min/1.73m2). Obesity classes were defined as class I (BMI &gt; 95th to &lt; 120% of the 95th percentile), class II (&gt; 120% to &lt; 140% of the 95th percentile), and class III (&gt; 140% of the 95th percentile). Youth were treated with immediate release metformin dosed twice daily for at least 6 weeks. Pill diaries and pill counts were conducted to assess adherence. Youth arrived fasting and received their AM dose of metformin with a standardized meal. Blood was drawn pre-dose and at 0.5, 1, 1.5, 2, 2.5, 3, 4, 6, 8 and 12 hours post-dose and urine collected throughout the visit. Primary outcomes included the mean, standard deviation, and range for steady state area under the plasma drug concentration-time curve adjusted for dose (AUCss_D) and apparent oral clearance at steady state (CLss/F). These outcomes were compared between obesity classes. MAJOR RESULTS There were 11 subjects (10 females), mean (SD) age was 14.3 (1.8) years. Metformin doses included: 1000mg BID (N=8), 500mg qAM 1000mg qPM (N=2), 500mg BID (N=1). Mean (SD) weight was 102.8 (19.2) kg, and mean BMI 37.5 (3.3) kg/m2. Among participants, there were N=4 with class III obesity, N=4 with class II obesity, and N=3 with class I obesity. Across all study participants, mean AUCss _D was 12.5 (SD 2.46; range 8.48-16.9) h*ng/mL/mg and mean CLss/F was 85.7 (SD 16.6; range 59. 0-118) L/h. Mean CLss/F was 76.8, 83.6, and 86.2 L/h in class I, II, and III obesity, respectively. Mean AUCss _D was 13.5, 12.17, 12.14 h*ng/mL/mg in class I, II, and III obesity, respectively. No differences were statistically significant.

Conclusions
Our pilot data suggest a 2-fold variability in apparent clearance among study participants, with apparent clearance increasing in relation to obesity severity class. Greater clearance, and thus reduced systemic exposure (AUC), may indicate a need for a larger dose of metformin in severely obese youth. Additional data is needed to further evaluate the impact of the severity of obesity on metformin clearance.
Presentation: No date and time listed
LBODP086 An Unusual Infant Case Of Gastric Volvulus Presenting With Dumping Syndrome
Authors: Lee Dahye , Choe Yunsoo , Lee Yun Jeong , Shin Choong H , Lee Young A 
Published: November 2022

Abstract
An 18-day female infant, born preterm small for gestational age (SGA), developed fasting hypoglycemia. A critical sample revealed an insulin level of 4.7 μIU/mL at the time of hyloglycemia (39 mg/dL) without ketoacidosis. Diazoxide therapy was started under the impression of transient neonatal hyperinsulinemia related to SGA, however, hypogycemia was developed on the 21st day of life. Targeted next generation sequencing (NGS) was performed for possible congenital hyperinuslinism. During octreotide therapy, postprandial hyperglycemia was incidentally detected at 27 days. Continuous glucose monitoring (CGM; Dexcom G6, San Diego, California) revealed postprandial hyperglycemia and subsequent hypoglycemia suggestive of dumping syndrome, although she had no prior history of surgery. An upper gastrointestinal series revealed the anomalous rotation of the stomach along the mesenteroaxial axis perpendicular to its longitudinal axis, implying gastric volvulus. The possibility of dumping syndrome caused by gastric volvulus was confirmed by stable glucose level in the euglucemic range using CGM after continuous nasojejunal feeding. She received laparoscopic gastropexy to anchor the stomach. Euglycemia was maintained after surgery and octreotide therapy was successfully discontinued. NGS identified no pathogenic variant for congenital hyperinsulinism. At 8 months of age, she exhibited catch-up growth and normal development. This is the first infant case of gastric volvulus presenting with dumping syndrome during diazoxide therapy for transient neonatal hyperinsulinism.
Presentation: No date and time listed
LBODP087 Unusual Presentation Of Salt-wasting 3-beta-hydroxysteroid Dehydrogenase-2 Deficiency
Authors: Vidal Katherine , George Anu Skaria , Morand Megan , Cooney Erin , Lee Phillip D K 
Published: November 2022

Abstract

Background
Biallelic pathogenic variants of HSD3B2 cause 3-beta-hydroxysteroid dehydrogenase-2 (3BHSD2) deficiency. 3BHSD2 is a rare cause of congenital adrenal hyperplasia (CAH) with two presentations in infancy including salt-wasting and a non-salt wasting with variable virilization of females and undervirilization of males (1). The salt-wasting form is usually not detected on newborn screen (NBS) and often presents with a potentially fatal adrenal crisis. We report a case of salt-wasting 3BHSD2, initially diagnosed as salt-wasting 21-hydroxylase deficiency following an abnormal newborn screen. Clinical case: A now 5.3 year old female was born at term, birthweight 3.44 kg, with no known pregnancy or neonatal problems. The first NBS at two days old was normal. The second NBS at 16 days old showed very high 17-hydroxyprogesterone (17OHP). She was clinically healthy with mild labial hyperpigmentation and rugation, and her clitoris was 1 cm in length. However, she had low sodium, elevated potassium, and elevated 17OHP with Na 127 mmol/L (RR 134-144), K 9.1 mmol/L (RR 3.5-5.2), and 17-OHP 5440 ng/dL (HPLC-MS/MS; RR 7-106). Glucocorticoid and mineralocorticoid replacement was initiated. She remained healthy with suppressed 17OHP and renin and full regression of virilization led to suspicion of the presumptive diagnosis of 21-hydroxylase deficiency. At 3 to 4 years old, CYP21A2 and CYP11B1 analyses were both resulted normal. At 4.5 years old following a two day therapeutic withdrawal test, her labs were as follows: ACTH 1940 pg/mL (RR 7-63), 17OHP 147 ng/dL (RR &lt;299), DHEA 7240 ng/mL (RR 50-995), 17-hydroxypregnenolone 10405 ng/dL (RR ≤280) and pregnenolone 1352 ng/dL (RR 15-125). Her electrolytes were normal and all other adrenal precursors were within the normal reference range. Her diagnosis has since been revised to 3BHSD2 deficiency. At the time of submission, genetic confirmation is pending.

Conclusion
This case illustrates the variable presentation of this rare condition, and the value of genetic testing in CAH. The cause of the transient 17OHP elevation and mild virilization is uncertain; however, a possible relationship to persistent fetal adrenal is postulated. References: (1) MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2020 Jun 24]. 3-beta-hydroxysteroid dehydrogenase deficiency; [updated 2020 Jun 18; reviewed 2018 Jun 01; cited 2020 Jul 1]; [about 5 p. ]. Available from: https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency/.
Presentation: No date and time listed
ODP381 Changes in Perceptions of Pediatric Endocrinologists (PE) and Urologists (PU) to Infants and Children regarding care of individuals with 46,XY DSD
Authors: Lee Peter , Gardner Melissa , Kogan Barry , Khorashed Behzad Sorouri , Suorsa-Johnson Kristina , Sandberg David 
Published: November 2022

Abstract

Introduction
Over recent decades, controversy regarding standards of care has contributed to questioning past management recommendations for infants and children with a 46,XY DSD. Surveys conducted in 3 waves (2003, 2010, 2020) provide evidence of changes in recommendations for care have changed over this period.

Methods
Online surveys of the members of the Pediatric Endocrine Society (PE) and Societies for Pediatric Urology (PU) included case vignettes representing partial androgen insensitivity syndrome (PAIS), micropenis resulting from primary testicular failure, and penile ablation (non-DSD). Survey items included questions regarding recommended gender of rearing (GoR), genital surgery (and timing), and disclosure of diagnostic details to patient.

Results
The newborn PAIS vignette included elevated LH and FSH and a 1.2 cm. phallus that increased to 1.7 after exogenous testosterone. Male GoR was chosen by 47, 55 & 55% PE and 81, 83 & 69% of PU in waves 1 to 3, respectively; 27 PE and 28% PU chose an added "non-binary" option in 2020. The recommendation that parents, rather than patients, should decide about perineal hypospadias repair was chosen by 70, 60 & 50% of PE and 93, 90 & 79% of PU. Recommending against surgery were 25, 22 & 10% PE and 23, 13 & 8% PU. Recommending surgery be completed at &lt;1 year of age: 56, 59, 66% PE and 69, 78, 84% PU. Recommendation against disclosure of the underlying condition to the patient 12, 17 & 28% PE and 17, 19 & 22% PU, while 35, 28 to 32% PE and 34, 43 & 30% PU recommended that disclosure occur by 11 years of age. For the penile ablation vignette, 78, 92 & 92% PE and 98, 95 & 97% PU recommended male GoR. The 2020 non-binary option was chosen by 4 and 2% PE and PU. The majority of both groups recommended male GoR for the micropenis vignette with testicular failure; 94, 94 & 89% PE and 96, 97 & 88% PU. The decline in 2020 resulted from the recommendation of the non-binary option by 9% PE and 8% PU.

Conclusions
It seems clear that a female GoR recommendation is currently rare across 46,XY vignettes with evidence of testicular function during at least some of fetal life. It is also apparent that the current emphasis/controversy regarding GoR has resulted in confusion as to how to apply this poorly understood concept. The resulting shift of delaying decisions regarding surgery until the patient can decide is inconsistent with the recommendation that hypospadias repair occur before age 1 year. Finally, lack of or delayed disclosure is inconsistent with patient centered care recommendations.
Presentation: No date and time listed
ODP385 False Negative in the Screening for Congenital Hypothyroidism in Twin Newborns
Authors: Sejas Daniela Vargas , Dorado Juan Pablo Hayes , Claros Juan Carlos Portugal , Lopez Marco Antonio Rossell , Vargas Gerben Justiniano , Zuna Jasmani Gemio Anagua 
Published: November 2022

Abstract

Background
In the neonatal screening for congenital hypothyroidism, false negative cases can be recorded, as evidenced in some twin newborns of the same sex, presumably due to fetal blood exchange.

Clinical Case
Neonate obtained by caesarean section indicated for twin pregnancy. The newborn and his twin, both male, presented normal TSH values (&lt;10 mlU/L) in the neonatal screening for congenital hypothyroidism; but in the second screening, routinely performed in newborns obtained from twin or multiple pregnancies, in the second week of life, a TSH level of 27 mlU/L was evidenced in the newborn; the free T4 value was analyzed and was found to be low. With the diagnosis of congenital hypothyroidism, therapy with levothyroxine was started.

Conclusion
It is important to carry out a second neonatal screening for congenital hypothyroidism in cases of multiple pregnancy, especially twins of the same sex, in the second week of life, to avoid possible false negatives TSH values.
Presentation: No date and time listed
ODP393 Pfeiffer syndrome with growth hormone deficiency in a 4-year-old girl
Authors: Bae AHN Moon , Jeong JANG Min 
Published: November 2022

Abstract

Backgrounds
Craniosynostosis syndrome has a variety of causes, one of which is an autosomal dominant disorder associated with FGFR1 or FGFR2 gene mutation known as Pfeiffer syndrome (PS; OMIM 101600). It is known that PS is clinically diagnosed, not genetic judgment. PS is divided into three subtypes depending on severity of specific phenotypes. Patients with PS type 1 are broad thumbs and great toes, brachydactyly or syndactyly. They have widely spaced eyes, midface hypoplasia and dental abnormalities but short stature is not typical phenotype of PS. We report the patient who were clinically diagnosed PS with short stature because of growth hormone deficiency (GHD). Case Report: A 4 years 7 month-old girl presented with a short stature below the 3rd percentile. She was born at 40 weeks of gestation with a birth weight of 2.9 kg. Her perinatal and neonatal histories were unremarkable. Her parents are non-consanguineous and her mother had micro- pituitary adenoma. She has healthy younger brother who aged 9 months old. In physical examination, height was 91.1 cm (-3.92 SDS), weight was 15.5 kg (-1.15 SDS). Wide thumb and great toes on both sides of her are observed. At the time of admission, bone age was advanced, measured 7 years. There were no specific findings other than a decrease in IGF-1 level (108.24 ng/ml) and increase in prolactin level (27.26 ng/ml) on the basic endocrine examination. The growth hormone (GH) induced stimulation test was performed after admission. She underwent GH induced stimulation test with combinations of 2 stimulants to assess GH secretion: levodopa 150 mg and arginine 0.5 g/kg. The peak GH level was 7.41 ng/ml in levodopa test and 5.58 ng/ml after 30 minutes’ response to arginine. She was diagnosed as a partial GHD defined by peak GH between 5 and 10 ng/ml in both test. There were no findings in karyotyping and chromosomal microarray. As a result of targeted panel sequencing of 233 genes related to hereditary short stature, c.2398dupT, a pathogenic variant that had not been previously reported in the FGFR2 gene, was observed in a heterozygous form as the cause of short stature. Subsequently, recombinant human GH has been administered in units of 0.1 per day according to her weight. The height was increased from 93.6 cm (SDS) in 4 years 10 months old to 98 cm in 5 years 2 months. Any side effects or adverse reactions were not observed during the treatment period.

Conclusion
It is suggested that a growth hormone test be performed for Pfeiffer syndrome patients with short stature. GH may help growth in patients with positive in the test.
Presentation: No date and time listed