ResearchPad - pediatric-puberty-transgender-health-and-general-endocrine https://www.researchpad.co Default RSS Feed en-us © 2020 Newgen KnowledgeWorks <![CDATA[SUN-LB13 Idiopathic Infantile Hypercalcemia Secondary to CYP24A1 Mutation: A Rare Case Without Exogenous Vitamin D Supplementation]]> https://www.researchpad.co/article/elastic_article_8709 Background: Mutations in CYP24A1, which encodes 24-hydroxylase, the key enzyme for Vitamin D breakdown, cause symptomatic hypercalcemia and nephrocalcinosis in infants on Vitamin D supplementation. New, symptomatic diagnoses of idiopathic infantile hypercalcemia without exogenous supplementation are rare. Previous case reports describe a seasonal effect with worsening hypercalcemia and hypercalciuria during summertime, attributed to increased sun exposure and endogenous Vitamin D production. Clinical Case: A 10-month-old female presented to endocrine care with hypercalcemia and nephrocalcinosis, detected on renal ultrasound (US) due to history of UTI. Her first renal US and serum calcium (Ca) at 3mo of age were normal. Subsequent renal US at 6mo and 9mo of age demonstrated nephrocalcinosis, prompting nephrology and endocrine evaluation. History was significant for failure to thrive. She was born in the fall, with worsening hypercalcemia and nephrocalcinosis during the summer. Diet consisted of standard infant formula and age appropriate solid foods with no added Vitamin D supplementation (~300 IU/day in her formula). She had no family history of nephrocalcinosis, nephrolithiasis, bone disease, or disorders of Ca regulation. Initial labs were notable for Ca corrected for albumin 11.5 (7.8-11.1 mg/dL), PTH <4 (8.7-77.1 pg/mL), 25-OH-Vitamin D 81 (30-96 ng/mL), 1,25-OH-Vitamin D 23.1 (26.1-95 pg/mL), Urine Ca/creatinine ratio of 0.9 mg/mg (<0.81), normal chromosomal microarray, and normal thyroid function tests. She was started on reduced mineral formula PM 60/40. One week later, repeat Ca level increased to Ca corrected 14.2 (7.8-11.1 mg/dL). She was admitted for IV fluids and pamidronate, and was transitioned to a low Ca and Vitamin D formula (Calcilo), with improvement in Ca levels. Testing revealed an increased ratio of 25-OH-Vitamin D to 24,25-OH-Vitamin D of 192 (normal <25), and genetic testing showed 2 pathogenic missense mutations in CYP24A1 genes: c.1226T>C p.(Leu409Ser) and c.1186C>T p.(Arg396Trp). The Leu409Ser mutation has shown a small amount of 24-hydroxylase activity in previous in vitro analysis. She has continued a low Ca diet with stable Ca corrected of 10.7-10.8 (8.7-9.8 mg/dL) and significantly improved weight gain. Conclusion: This is one of the few documented cases of symptomatic idiopathic infantile hypercalcemia secondary to CYP24A1 mutation in an infant without exogeneous Vitamin D supplementation. Her nephrocalcinosis and hypercalcemia worsened over the summer, suggesting increased sun exposure may have been a contributing factor. This case demonstrates that 1,25-OH-Vitamin D levels may be normal or low in this condition, particularly for individuals with the Leu409Ser mutation who may retain partial 24-hydroxylase function.

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<![CDATA[SUN-065 Bone Health Outcomes in a Large, Diverse Pediatric Cohort Undergoing Hematopoietic Stem Cell Transplant]]> https://www.researchpad.co/article/elastic_article_8544 Background:

Impaired bone mineral density (BMD) is a known complication of hematopoietic stem cell transplantation (HSCT) in adults and may lead to increased fracture risk. Little is known in pediatrics about the risks for impaired BMD and fragility (low trauma) fractures after HSCT. Factors that may influence the risk of bone disease include underlying diagnosis, glucocorticoid exposure, and HSCT complications (e.g. graft versus host disease (GVHD)). Our study aims to describe the incidence of fragility fractures in a large diverse pediatric HSCT population and to identify risk factors of both fracture and impaired BMD.

Methods:

We reviewed the records of 237 patients (age ≤ 21 years at time of transplant) who underwent HSCT at our institution between January 2015 and March 2018. The primary endpoint was incidence of fragility fractures and the secondary endpoint was assessment of BMD on dual-energy X-ray absorptiometry (DXA). We analyzed DXA results at one-year post-HSCT in 72 out of 206 patients alive at 1 year.

Results:

There were 25/237 (10.5%) patients with evidence of fragility fracture on x-ray. Of those, 18/25 (72%) were spine fractures. For patients who had fractures, median time to fracture was 5.9 months after BMT. Mortality at one-year was proportionally higher, though not significant (p=0.11) in patients who had at least one fragility fracture (24%; 6/25) compared to patients without fragility fracture (12%; 25/212). Vitamin D status at one-year post transplant was sufficient (>20ng/mL) in 94% (160/171) of patients measured. There was no difference in incidence of fracture between vitamin D sufficient and insufficient patients. The median height-for-age adjusted Z-score (HAZ) for spine BMD at one-year post transplant was 0.13 in all patients. The median HAZ spine BMD Z-score in patients with fragility fracture was -1.64, though data was available for only 5 patients.

Conclusions:

The incidence of fragility fractures, especially vertebral compression fractures, after pediatric HSCT is striking and is higher than in adult populations. Furthermore, there are likely additional asymptomatic patients with occult fractures not detected in out cohort. Additional analysis will assess the associations between underlying medical diagnosis, GVHD, and chronic glucocorticoid exposure on fragility fracture risk. The high incidence of fragility fractures seen in this study advocates for establishing bone health screening protocols with attention toward spinal imaging in pediatric patients undergoing HSCT.

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<![CDATA[SUN-062 Psychiatric Co-Morbidities, Sexual Orientation, and Impact of Therapeutic Interventions in a Gender Non-Conforming Pediatric Practice]]> https://www.researchpad.co/article/elastic_article_6972 Background: There is limited scientific literature regarding gender non-conforming (GNC) youth in pediatric practice. GNC patients of all ages have an increased risk for psychiatric co-morbidities and suicidal risk. An increasing number of GNC youth are seeking therapeutic options to develop physical characteristics to match their gender identity. The study aim is to describe the prevalence of psychiatric co-morbidities and sexual orientation among GNC pediatric patients in a clinic-based setting in Miami, Florida. A secondary aim is to compare the grade of dysphoria before and after therapeutic interventions among GNC youth. Methods: This is a retrospective chart review on records from 2014–2019 among transgender adolescents attending a pediatric endocrinology clinic in Miami. Data on demographics and clinical characteristics were obtained from electronic medical records. We performed descriptive statistical analysis using SPSS version and reported frequencies and percentages. Results: A total of 158 patients were included in this analysis. There were 107 (67.7%) affirmed males (female to male), 47 (29.7%) affirmed females (male to female), and 4 (2.5%) considered themselves non-binary. Median age at onset of gender dysphoria symptoms and beginning of social affirmation was earlier in affirmed females (7.21 and 12.36 years vs. 9.65 and 13.50 years). Among affirmed males, sexual orientation was self-reported as 38% straight, 47% bisexual, 12% homosexual and 1% asexual vs. among affirmed females, whose sexual orientation was reported as 54.3% straight, 37.1% bisexual and 8.6% homosexual. Prevalence of psychiatric co-morbidities in our study population was 78.5%. Depression was the most frequent diagnosis (66.5%), followed by anxiety (33.5%), attention deficit hyperactivity disorder (10.1%), bipolar disorder (1.9%), bulimia (1.3%), anorexia nervosa (0.6%) and post traumatic stress disorder (0.6%). Psychiatric co-morbidities were more common among affirmed males (84.1% vs. 66%). History of suicidal ideation was more common among affirmed males (70.1%) than affirmed females (49%). Self-injuring (cutting) was more common among affirmed males (56.1%) than in affirmed females (25.5%). Mean age at hormonal treatment onset was similar in both groups (15.75 years in affirmed males vs. 15.58 years in affirmed females). The degree of gender dysphoria before and after starting hormonal treatment, reported on a scale of 0 (no dysphoria) to 10 (highest possible dysphoria), declined for both genders (8.08/10 and 3.99/10) and affirmed females (7.87/10 and 2.96/10). Conclusion: The prevalence of psychiatric co-morbidities, suicidal ideation, and self-injuring behavior is high among GNC youth, but in this population, significantly worse among affirmed males. Both groups had significant improvement in the degree of dysphoria after beginning hormonal treatment.

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<![CDATA[SUN-063 Usefulness of a LHRH Test with Low Dose of Triptorelin Pamoate in the Diagnosis of Precocious Puberty in Girls]]> https://www.researchpad.co/article/elastic_article_6963 Objective: to determine diagnosis value of a new LHRH test for diagnosis or precocious puberty (PP) correlated with clinical and paraclinical pubertal changes. Methods:79 girls under age 10 years old were referred to our laboratory with diagnosis of precocious puberty went thought a physical exam and bone age /pelvic US review to classify them clinically in probably PP or unlikely PP. A LHRH test was performed with measurement of at least 3 times including baseline measurement of gonadotrophins (LH / FSH) and estradiol 0-24 hours after a dose of 100 mcg/m2 (max 100 mcg) of Triptorelin Pamoate. The results for LH greater than 8 uUI / L and estradiol of 80 pg / ml were considered positive - Results: From 79 girls, mean age 8,02 years old (+/- 2,2) 41 were classified as likely PP (group 1) and 38 unikely PP (group 2) On group 1, 39 patients (95,1 %) had results of LH above 8 uUI/L. In this group, 5 patients (12.1%) had estradiol results below 80 pg / ml. Of the positive test, 3 patients (7,6%) %) had LH peak time 60 min, 4 patients (10,2%) had LH peak time 90 min, 31 (79,4%) had LH peak at time 180 minutes. In group 2, 3 patients (7,89 %) had values of estradiol above 80 pg/ml and 1 patient had values above 8 uUI/ml. Sensitivity was 95,1% specificity 97,4%, predicted positive value 97,5% and negative predicted value 95%. Conclusion: Low dose LHRH test for precocious puberty with 100 mcg/m2 of Pamoate Triptorelin is a useful tool in the diagnosis of precocious puberty in girls, with high sensitivity and specificity and with lower cost than other diagnostic tools.

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<![CDATA[SUN-078 Clinical, Hormonal, Psychosexual Aspects, Gonadal Tumors and Genetic Background of an Androgen Insensitivity Syndrome Cohort]]> https://www.researchpad.co/article/elastic_article_6598 Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is a X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12), leading to 3 different phenotypes: Complete (CAIS), Partial (PAIS) or Mild (MAIS). Methods: Patients with clinical suspicion of AIS (familial history, atypical genitalia, primary amenorrhea and/or inguinal hernia) performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the ARgene, including all exonic regions (8 exons) and the 5’UTR region. Psychosexual variables (gender identity, gender role and sexual orientation) were evaluated through questionnaires. Gender identity was also evaluated through projective psychological test (HTP test). A histopathological study and immunostainining of CD240 and OCT3/4 were carried out for all individuals submitted to gonadectomy.Results: This cohort is made up of 64 individuals: CAIS (n=26) and PAIS (n=38), from 46 different families (24 PAIS; 22 CAIS). Inguinal hernia was the first clinical presentation in 35% of CAIS. Among the PAIS, 20 (52%) were assigned as female at birth, while 18 (48%) as male. Among In the group of PAIS, external genitalia virilization (Sinnecker score) influenced sex assignment (p<0.01). Final height and weight were similar between PAIS and CAIS. Furthermore, gender identity at adulthood, gender role at childhood and sexual orientation were in agreement with sex assignment in virtually all cases of both PAIS and CAIS. No gender change was observed. Molecular diagnosis was obtained in 96% of CAIS and in 87% of PAIS. There were 10 novel AR allelic variants (4 in CAIS - 2 small deletions, 1 missenseand 1 at splicing site and PAIS - 5 missenseand 2 synonymous variants (both causing a new exonic splicing site leading to a short AR protein). LH ranged from 9 to 48 UI/L (mean 19), testosterone from 190 to 1500 ng/dL (mean 438), without phenotype differences. Seminoma was identified in 2 out 24 (8%) individuals with CAIS (at 19 and 20 years of age). This rate was higher taking into account only those who underwent gonadectomy after puberty (16 years old or later: 2 out 17 (12%). Among PAIS there were 2 cases of NICG (at 3 and 19 years of age) and none of seminoma. Conclusion: Hormonal levels did not enable us to differ PAIS and CAIS. Inguinal hernia is a common clinical presentation of AIS. External genitalia appearance in PAIS influenced sex assignment. The psychosexual development in AIS usually complies with sex assignment. No gender change was observed. There is a risk of seminoma in CAIS, especially after puberty, which is not low enough to be ignored.

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<![CDATA[SUN-070 European Registries for Rare Endocrine Conditions (EuRRECa): Results from the Platform for E-reporting of Rare Endocrine Conditions (e-REC)]]> https://www.researchpad.co/article/elastic_article_6535 Background EuRRECa (European Registries for Rare Endocrine Conditions) is a group of web-based projects that work closely with the European Reference Network (ERN) for Rare Endocrine Conditions (endo-ern.eu) and helps the ERN with inventorying its clinical activity. To understand the number of new encounters of rare conditions within this network, it has launched an e-reporting programme for rare endocrine conditions (e-REC) that are covered within this network. Methods 46 endocrine centres within 18 countries volunteered to participate in e-REC from July 2018 to June 2019. An electronic reporting ‘card’ developed through REDcap was issued monthly to enquire whether clinicians had encountered a new case of any condition within the 8 Endo-ERN main thematic groups (MTGs). Results On a monthly basis over 1 year, a median of 14 (range 11, 21) paediatric centres and 13 (11, 25) adult centres actively reported cases. A median of 53 (22, 80) paediatric cases and 96 (42, 250) adult cases were reported monthly. Amongst paediatric cases, conditions within the Sex Development and Maturation (SDM) theme were most commonly reported comprising 38% of all reported conditions, with XY, DSD being the most commonly reported condition (24% of cases). Amongst adults, Pituitary and Thyroid conditions were most commonly reported, 34% and 26% of all conditions, respectively. Amongst conditions within the Pituitary group, pituitary adenoma was the most commonly reported condition (74% of cases) and non-metastatic thyroid carcinoma was the most commonly reported condition (95% of cases) amongst the Thyroid group. In children, the median number of cases reported per centre was 21 (9, 32) for conditions affecting SDM. In adults, a median of 37 (6, 75) Pituitary and 22 (5, 80) Thyroid cases were reported per centre. Conclusion e-REC is a simple, yet effective, platform that can be used to capture information on new encounters with patients with several rare conditions and can be adapted to serve the needs of other discrete networks that are interested in understanding the occurrence of rare conditions.

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<![CDATA[SUN-054 Genetic Studies of Height-Associated Protein Expression Levels in Childhood]]> https://www.researchpad.co/article/elastic_article_6266 Background: Genome-wide association studies (GWAS) have identified thousands of common genetic variants associated with human height, implicating hundreds of genes and loci. However, the mechanisms by which many of these genetic variants contribute to human adult height are still unknown. Integrating knowledge of the interaction between genetic background and protein levels in childhood can provide insights into the biology of human growth. Objective: To investigate biological associations at height-associated loci in the GH-IGF signaling pathway. Methods: We used data from the Cincinnati Genomic Control Cohort, a community-based cohort comprised of 1,020 children. The study was approved by the institutional review board at Cincinnati Children’s Hospital Medical Center. Protein levels for free and total IGF-I, intact and total IGFBP-3, PAPP-A2, IGF-II, and IGFBP-5 were measured by ELISA in 839 children (ages 3-18 years) and corrected for age- and sex-effects. We associated protein-level phenotypes using plink qassoc and stratified by sex and population, in ~870 European- and African-descent individuals. Meta-analyses were performed using the METAL fixed-effects model. GWAS of anthropometric traits were performed in the UK Biobank of ~400,000 individuals using Bolt-LMM, or curated from publicly available summary statistics. Results: We identified 17 independent genome-wide significant protein-level-associated loci (p<5x10-8). The most robust associations were previously identified expression quantitative trait loci (eQTLs). The IGFBP3 locus was associated with serum total IGFBP3 and IGF-II levels. Despite falling within a height locus, conditional analyses showed that the effect on IGFBP-3 protein levels was independent of the height signal (p=2.8e-31, post conditioning). However, conditional analyses showed that the protein level signal colocalizes with a known GWAS signal for sitting height ratio (SHR). The IGFBP5 locus was associated with IGFBP-5 protein levels and was also independent of height signals identified in the region (p=3.3e-32, post conditioning). Conclusions: We have identified novel pQTLs for IGF2, IGFBP3, and IGFBP5 that act independently from genetic signals in the same regions associated with adult height but may interact with related anthropometric traits including SHR. Additionally, this suggests that SNPs affecting adult height in these loci do not work via increasing serum levels of these proteins but rather through a different and undetermined mechanism.

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<![CDATA[SUN-055 Prenatal Exposure to Artificial Sweeteners]]> https://www.researchpad.co/article/elastic_article_6247 Introduction: In adults, epidemiologic studies consistently show negative health outcomes (e.g. insulin resistance, stroke) related to artificial (or non-nutritive) sweetener (NNS) intake. In children, NNS sweetened beverage consumption is associated with higher total energy and sugar intake. In infants, we documented the immediate appearance of NNS in breast milk after mothers consume diet soda. A positive association between prenatal NNS exposure and higher BMI at 1 year of life has been observed in infants whose mothers routinely consumed NNS during pregnancy. In mice, we recently reported marked changes in intestinal microbiome and hepatic detoxification pathways of pups that had been exposed to NNS via their mothers’ intake during pregnancy and lactation. Thus, we conducted a pilot project to determine whether there is direct evidence for prenatal NNS exposure in humans. In future studies, we will investigate effects on health outcomes.

Methods: Concentrations of 3 NNS (acesulfame-potassium (ace-K), sucralose and saccharin) were measured with liquid chromatography-mass spectrometry in cord blood samples (n=15) and amniotic fluid samples (n=13). Aspartame cannot be measured because of its prompt metabolism into aspartic acid and phenylalanine. The cord blood samples were obtained from offspring of women enrolled in a sickle cell clinical trial at the NIH, while the amniotic fluid samples had been obtained for clinical purposes during the 3rd trimester. No dietary information was available other than 2 of 13 women were not in the fasting state when undergoing amniocentesis.

Results: In the cord blood samples, ace-K and saccharin were present in 12/15 (80%) samples. None of the samples contained sucralose. In the 13 amniotic fluid samples, 10 (77%) samples contained at least one sweetener. One sample was positive for all 3 sweeteners. Maximum concentrations in cord blood were 6.5 ng/mL for ace-K and 2.7 ng/mL for saccharin, while maximum concentrations in amniotic fluid were 78.9 ng/mL for ace-K, 55.9 ng/mL for saccharin, and 30.6 ng/mL for sucralose (non-fasting sample). Most women were in the fasting state before undergoing amniocentesis or giving birth, thus NNS peak concentrations could not be determined in this pilot study.

Discussion and Conclusion: 80% of cord blood samples (babies’ blood) and 77% of amniotic fluid samples (reflecting babies’ direct gastrointestinal/lung exposure) contained ace-K, saccharin and/or sucralose. We speculate that NNS exposure may influence in utero growth and development, e.g. sweet taste preference and metabolic pathways. Prospective studies are necessary to test these hypotheses. Results will determine whether current recommendations (or lack thereof) regarding NNS intake during pregnancy and lactation need to be revised.

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<![CDATA[SUN-LB12 Prenatal Trenbolone Exposure and External Genital Malformation: A Case Report]]> https://www.researchpad.co/article/elastic_article_5904 Background Trenbolone is a synthetic anabolic steroid used for muscle growth in livestock. Human use is not FDA approved. The active metabolite, 17β trenbolone is 3 times more potent an androgen than testosterone propionate. Prenatal trenbolone exposure in rats results in female offspring with external genital malformations including an increased anogenital distance (AGD). We now report a case of prenatal trenbolone exposure in humans. Clinical Case A 10 hour old baby delivered vaginally at 37 6/7 weeks of gestation with a birth weight of 3615 grams was admitted to the NICU for concern of ambiguous genitalia. Baby was born to 30 year old G6P3 mother who was HIV positive and adequately treated with Triumeq. She had irregular cycles prior to conception and pregnancy recognized at 14 weeks. Unlike her previous pregnancies, during this pregnancy she had acne and mildly increased facial hair. Prenatal cell-free DNA screening was 46XX and ultrasound showed female genitalia. The 9 year old half-sister and 5 year old brother are healthy. No family history of early neonatal deaths. On arrival blood glucose was 55 mg/dL (45-90). On exam baby had no obvious facial dysmorphic features or midline defects. Hand creases were normal and no extremity edema was noted. Genitalia appeared symmetrical and, showed prominent soft tissue of clitoris without corpus enlargement. No gonads were palpable in the groin or labioscrotal folds. Significant posterior labioscrotal fusion was noted. Anogenital ratio was 0.8 (normal <0.5). A single orifice at the base of the clitoral hood was noted, consistent with likely urogenital sinus. Additional history provided by mother included her disclosure of use of 200 mg of IM trenbolone weekly for 5 weeks, for muscle building, prior to her knowledge of being pregnant. Multidisciplinary care included pediatric endocrinology, genetics, pediatric urology, and pediatric infectious disease. Labs at 24 hours of life: Sodium - 139 mmol/L (131-144), Potassium - 5.3 mmol/L (3.2-5.7), Serum glucose - 75 mg/dL (45-90), Random cortisol - 34.1 mcg/dL (1.0-10.0), 17 hydroxyprogesterone - 124 ng/dL (<460), CAH diagnostic panel - normal with exception of elevation in Progesterone - 3400 ng/dL (5-53), Newborn screening - normal, Chromosomal analysis - 46,XX and absent SRY, Ultrasound pelvis - normal Müllerian structures and bilateral intra-abdominal gonads present. Baby was hemodynamically stable, voided well, gained weight by discharge on DOL 4. Baby was stable on follow-up in endocrinology clinic on DOL 10. Surgical repair of anatomic malformation to be performed at 6 months of age by urology team. Conclusion To our knowledge, this is the first report of virilization of female offspring following human prenatal exposure to trenbolone. Women must be cautioned that trenbolone poses risks of external genital malformation to the developing fetus.

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<![CDATA[SUN-077 Do Low Sex Hormone Binding Globulin Levels in Newborns Predict Weight Gain in Infancy and Early Childhood?]]> https://www.researchpad.co/article/Nb9f0fd2e-bf52-4e64-9fe9-87dc72cc7d7c Background: SHBG levels are low in obesity, and low SHBG levels are a biomarker for the development of T2DM and the metabolic syndrome. We sought to determine whether low SHBG in newborns will predict childhood obesity. Methods: We studied 94 healthy, singleton, full-term newborns, and measured their length, weight (BW), waist circumference, and skinfold thicknesses. We collected cord blood as well as day 2 venous blood samples for the measurement of SHBG and insulin (ALPCO, Salem NH). Maternal age, pre-pregnancy weight, pregnancy weight gain, and glucose screening test results were obtained from obstetrical records. Mothers with chronic diseases were excluded from the study. When babies were 2 years old, we administered a questionnaire to collect information about their eating, sleeping, screen viewing habits, and anthropometric measurements at ages 6, 12, and 24 months (n=47). Overweight was defined as a BMI SDS of ≥1 and <2.0, and obesity as ≥2 SDS. We used the Shapiro-Wilk test to determine if variables were normally distributed. Data were analyzed using the Mann Whitney U and Wilcoxon signed-rank tests, and by Pearson or Spearman correlation analyses. We report non-normally distributed variables as medians and interquartile ranges (IQR). Because of skewed distributions, log 10 transformed values for SHBG were used in the regression analyses. Results: SHBG levels on day 2 were significantly higher than in cord blood [22.0(28.7-16.9) vs. 19.0(24.6-14.5) nmol/L, p<0.001], whereas insulin levels were higher in cord blood than in day 2 samples [3.2(5.3-2.0) vs. 1.5(2.2-0.8) µIU/mL, p<0.001]. SHBG and insulin levels were similar in male (n=44) and female (n=50) babies at all time points. Babies with Ponderal index values in the highest quartile had lower day 2 SHBG [18.2(22.1-16.7) vs. 24.3(30.3-18.2) nmol/L, p=0.02] and higher cord blood insulin levels [5.0(7.4-2.6) vs. 2.9(4.8-1.5) µIU/mL, p=0.04] than the remainder of the cohort. At age 2 years, 32% (15/47) of babies were overweight or obese, 60% (28/47) were breastfeeding, 58% (27/47) were watching TV or iPads, and 55% (26/47) were eating sweet snacks. Toddlers watching TV or iPads (p=0.008), or eating sweet snacks (p=0.04) were heavier than their peers. Neither cord blood nor day 2 SHBG or insulin levels correlated significantly with any of the anthropometric measurements in the newborns. On the other hand, day 2 SHBG levels correlated positively with weight at 6 (r=0.311, p=0.04) and 24 months (r=0.353, p=0.02) of age. These associations remained significant after adjusting for gender, BW, gestational age, breastfeeding status and fruit juice intake at 6 months (R2=0.28, p=0.048) and for gender, BW, gestational age, breastfeeding status, sweet snack intake and screen viewing habits at 24 months (R2=0.33, p=0.046). Conclusion: Although the heaviest babies had lower SHBG levels at birth, low SHBG did not predict overweight at age 2 years.

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<![CDATA[SUN-060 Steroid Hormone Profile Differentiates Gynecomastia and Pseudo- Gynecomastia in Pubertal Boys]]> https://www.researchpad.co/article/N28b2fb27-f356-488f-9e6d-c36fbedc6978 3ml on each side. Results: A total of 86 boys suffered from gynecomastia and 38 from pseudogynecomastia. In boys with gynecomastia the ratio E2/T (median 22, interquartile range [IQR] 8–75) was significantly (p<0.05) higher compared to boys with pseudogynecomastia (median 12 IQR 5–21) or healthy boys without breast swelling (median 18 IQR 6–44). DHT concentrations were significantly (p<0.001) lower in boys with gynecomastia (median 0.13 IQR 0.02–0.38 nM/L) or pseudogynecomastia (median 0.18 IQR 0.05–0.32 nM/L) compared to healthy boys (median 0.41 IQR 0.22–0.66 nM/L). T concentrations were significantly (p<0.05) lower in boys with gynecomastia (median 1.8 IQR 0.7–4.2 nM/L) compared to boys with pseudogynecomastia (median 4.3 IQR 1.4–6.9 nM/L) or healthy boys without breast swelling (median 3.1 IQR 0.6–7.6 nM/L). The ratio DHT/T was significantly (p<0.001) lower in boys with gynecomastia (median 0.09 IQR 0.02–0.17) or pseudogynecomastia (median 0.04 IQR 0.02–0.16) compared to healthy Boys without breast swelling (median 0.13 IQR 0.05–0.28). Boys with gynecomastia did not differ from boys with pseudogynecomastia according to the other steroid hormones, prolactin, IGF-1, or IGFBP-3 concentrations. Conclusions: Gynecomastia is characterized by a higher E2 to T ratio compared to healthy boys without breast swelling due to a relative T deficiency in the presence of similar E2 levels. The lower DHT/T ratio in gynecomastia and pseudogynecomastia compared to healthy boys without breast swelling points towards a functional 5 alpha reductase deficiency. ]]> <![CDATA[SUN-056 Long Term Outcomes in Patients with Disorders of Sex Development in Lucknow, North India]]> https://www.researchpad.co/article/N265f2c31-8852-40e9-a543-6b78f186cc2e 16 years, median [IQR] 23 [19-27] years, 16 males) was compared with age, sex and socioeconomic status matched normal (n = 46) and chronic disease controls (type 1 diabetes patients, n = 43) using SF-36v2 Health Survey. Another structured questionnaire was administered touching upon domains of sexual and psychosocial life. Eighteen patients reported history of persistent teasing, with no difference in prevalence between males and females. Eighteen reported suicidal thoughts (no association with being teased), 6 having attempted suicide. Gender identity (GI) of 30 patients was identical with their given sex of rearing, which had been decided by the caregiver in 19 families (including one who had gender change suggested by the parents at 4 years of age), and with physician assistance in 11. One patient had spontaneous change of GI at 16 years age. Sexual orientation was heterosexual in 25 of 29 who responded to this question, homosexual in 1 and bisexual in 3, including the 2 who had gender change. Romantic relationship was reported by 12 patients, sexual activity by 7, aversion to sex (due to fear of rejection) by 11 and abuse by 4. Seventeen patients thought the timing of genital surgery should be before age 5 years and another 10 before age 10 years. Only 2 of 31 patients thought decision for the timing and choice of surgery should rest with themselves, the remainder preferring a decision by parents in 25% and by the physician in 67%. The physical and mental quality of life scores (QOLS) were not different between patients and the controls. Mental QOLS were significantly lower for those with history of teasing. Physical QOLS in males correlated with external masculinisation score (r=0.55, p=0.04). Conclusion: Serious psychological stress is common in patients with DSD in our region. Despite early sex assignment, the absence of prominent gender dysphoria in adulthood, along with their stated preference for corrective genital surgery at an early age, favour an early sex assignment and genital reconstruction before the age of romantic relationships. ]]> <![CDATA[SUN-074 Loss-Of-Function Mutations in GATA4 in Patients with 46,XY Disorders of Sex Development Without Cardiac Defects]]> https://www.researchpad.co/article/Ne05f7922-db45-4761-aa9e-47c7a62e1033 G (p.R215G)] in GATA4, whereas a previously reported variant of c.1220C>A (p.P407Q) was identified in Subject 2. In vitro luciferase reporter assays using SRY and AMH promoter revealed decreased transcriptional activity of both p.P407Q and p.R215G. Conclusions: This study expanded phenotypic spectrum of mutations in GATA4 in patients with 46,XY DSD without CHD. GATA4 mutations in patients with 46,XY DSD may not be associated with CHD. Possible explanations for phenotypical variability comprise incomplete penetrance, variable expressivity, and oligogenic mechanisms. ]]> <![CDATA[SUN-061 Anthropometric and Reproductive Outcomes of Patients with Gonadotropin-Independent Precocious Puberty Due to McCune-Albright Syndrome After Treatment with Distinct Therapeutic Agents]]> https://www.researchpad.co/article/N2a22854d-cf8b-446e-bc5b-5836c3e326d8 <![CDATA[SUN-058 Endocrine and Metabolic Complications in 16 Taiwanese Patients with Thalassaemia Major]]> https://www.researchpad.co/article/N50175435-d492-40b1-bbc5-5336cb4d6023 <![CDATA[SUN-LB11 What Is the Value of Clinical Suspicion in Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (CAH 21OHD)?]]> https://www.researchpad.co/article/N6d2d33e5-d9a0-4a03-828e-32a44613863d <![CDATA[SUN-069 A 14 Year Old Female with Primary Amenorrhea]]> https://www.researchpad.co/article/N566a7c39-247c-4dbc-a471-9e0c13609eb3 <![CDATA[SUN-076 Somatic and Neurodevelopmental Outcome and Muscle Tone in 5 to 9 Year Old Children Born After Intracytoplasmic Sperm Injection]]> https://www.researchpad.co/article/N2e8e16d5-fd98-4700-9e97-c69040f92f7c <![CDATA[SUN-066 Prenatal Sex Steroid Serum Concentrations in Relation to Sex-Typical Play Behavior at 4 Years of Age]]> https://www.researchpad.co/article/Nfc551f4e-39fe-4430-970a-f89a34484670 <![CDATA[SUN-LB14 Trans and Non-Binary Youth Accessing Gender Affirming Medical Care in Canada: New Research From the Trans Youth CAN!]]> https://www.researchpad.co/article/N92b7156d-73a1-4089-b5c2-d8272e0fe4ab