BACKGROUND AND PURPOSE: Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the NSD1 gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, and corpus callosal dysmorphism are typical neuroimaging features that have been described in the medical literature. The purpose of this study was to expand on the neuroimaging phenotype by detailed analysis of a large cohort of patients with genetically proved Sotos syndrome. MATERIALS AND METHODS: This multicenter, multinational, retrospective observational cohort study systematically analyzed the clinical characteristics and neuroimaging features of 77 individuals with genetically diagnosed Sotos syndrome, via central consensus review with 3 pediatric neuroradiologists. RESULTS: In addition to previously described features, malformations of cortical development were identified in most patients (95.0%), typically dysgyria (92.2%) and polymicrogyria (22.1%), varying in location and distribution. Incomplete rotation of the hippocampus was observed in 50.6% of patients and was associated with other imaging findings, in particular with dysgyria (100% versus 84.2%, P = .012). CONCLUSIONS: Our findings show a link between the genetic-biochemical basis and the neuroimaging features and aid in better understanding the underlying clinical manifestations and possible treatment options. These findings have yet to be described to this extent and correspond with recent studies that show that NSD1 participates in brain development and has interactions with other known relevant genetic pathways.

BACKGROUND:The American Academy of Pediatrics advises that the nutrition of preterm infants should target a body composition similar to that of a fetus in utero. Still, reference charts for intrauterine body composition are missing. Moreover, data on sexual differences in intrauterine body composition during pregnancy are limited. OBJECTIVES:The objective of this study was to create reference charts for intrauterine body composition from 30 to 36+6 weeks postconception and to evaluate the differences between sexes. METHODS:In this single-center retrospective study, data from 197 normal developing fetuses in late gestation was acquired at 3T magnetic resonance imaging (MRI) scans, including True Fast Imaging with Steady State Free Precession and T1-weighted 2-point Dixon sequences covering the entire fetus. Deep convolutional neural networks were utilized to automatically segment the fetal body and subcutaneous adipose tissue. The fetus's body mass (BM), fat signal fraction (FSF), fat mass (FM), FM percentage (FM%), fat-free mass (FFM), and FFM percentage (FFM%) were calculated. Using the Generalized Additive Models for Location, Scale, and Shape (GAMLSS) method, reference charts were created, and sexual dimorphism was examined using analysis of covariance (ANCOVA). A P value <0.05 was deemed significant. RESULTS:Throughout late gestation, BM, FSF, FM, FM%, and FFM increased, while the FFM% decreased. Reference charts for gestational age and sex-specific percentiles are provided. Males exhibited significantly higher BM (7.2%; 95% confidence interval [95% CI]: 1.9, 12.4), FFM (8.8%; 95% CI: 5.8, 11.9), and FFM% (1.7%; 95% CI: 1, 2.4) and lower FSF (-3.6%; 95% CI: -5.6, -1.8) and FM% (-1.7%; 95% CI: -2.4, -1), (P < 0.001) compared with females, with no significant difference in FM between sexes (P = 0.876). CONCLUSIONS:MRI-derived intrauterine body composition growth charts are valuable for tracking growth in preterm infants. This study demonstrated that sexual differences in body composition are already present in the intrauterine phase.

Background: Spontaneous spinal subarachnoid hemorrhage (SSH) is an infrequent yet critical condition, accounting for less than 1% of all spinal hemorrhages and presenting substantial diagnostic difficulties. It predominantly arises due to factors such as tumors, trauma, arteriovenous malformations (AVM), and certain medications including anticoagulants. The complexity of its presentation necessitates vigilance from healthcare providers to avert irreversible neurological impairments. Case Description: This study delineates the unusual case of an 82-year-old woman undergoing direct oral anticoagulant (DOAC) therapy who reported sudden, severe chest and back pain, rapidly escalating to lower limb motor and sensory deficits, coupled with urinary and fecal incontinence. An initial cranial computed tomography (CT) indicated a peri-mesencephalic subarachnoid hemorrhage (SAH). Subsequent spinal CT angiography (CTA) and magnetic resonance imaging (MRI) affirmed the diagnosis of a spontaneous SSH, displaying significant cord compression, particularly in the thoracic regions between the T6 and T9 vertebrae. Emergency laminectomy was done to evacuate the subarachnoid hematoma that was causing cord compression. Postoperatively, the patient recovered partial neurological function Conclusions: SSH, though rare, embodies a significant diagnostic hurdle and potential for lasting neurological deficits if not identified and treated promptly. Particularly in patients on anticoagulant therapy presenting with acute onset back pain and neurological dysfunction, SSH ought to be a crucial consideration. It is imperative to integrate prompt and advanced neuroimaging techniques and consider spinal angiography as a golden standard for a comprehensive diagnosis. Treatment strategies depend largely on the presence of neurological deficits, emphasizing the necessity of quick identification and emergency intervention in severe cases. This study elucidates the critical role of timely intervention in optimizing recovery outcomes, highlighting the necessity of including anticoagulant-induced spinal hemorrhage in differential diagnoses for patients manifesting signs of acute spinal cord compression.

Background: While the popularity of lobectomy for differentiated thyroid cancer (DTC) has increased since the 2015 American Thyroid Association guidelines, several recent studies reported that “high risk” histological features may be found in up to half of lobectomy specimens, questioning the validity of this approach. In turn, the actual risk associated with some “high risk” features (multifocality, minimal extra-thyroidal extension (ETE), and small lymph node (LN) metastases) has been questioned in recent years. Aim: To assess the prevalence of “high risk” pathological features in occult DTC detected in autopsy studies. Methods: Meta-analysis of autopsy studies of the thyroid gland in subjects without history of thyroid cancer. Studies with DTC lesions and details on histological features were included. Results: Twenty nine studies including 8,750 subjects fulfilled the inclusion criteria, with incidentally discovered DTC in 740 autopsies (prevalence of 8.5%). Age was reported in 17 studies, with a median age of 61 years (range 41-68 years). Multifocality was reported in 27 studies with a calculated event rate of 28.2% (95%CI 23.1% to 33.8%, random effect), with bilateral involvement in 18% (95%CI 12.6%-25/1%). Minimal ETE was reported in five studies, with an event rate of 24.5% (95%CI 9.3% to 50.7%, random effect), and the presence of LN metastases was reported in 13 studies with an event rate of 11% (95%CI 6.1% to 19.1%, random effect). Vascular invasion was reported in seven studies with an event rate of 16% (95%CI 4% to 47%, random effect). Conclusions: “High risk” histological features are common in occult DTC found in autopsy studies, and do not seem to be markers of aggressive disease. These data support a less aggressive therapeutic approach in patients with microscopic “high risk” features which were not detected on pre-operative ultrasound.

Background: While the popularity of lobectomy for differentiated thyroid cancer (DTC) has increased since the 2015 ATA (American Thyroid Association) guidelines, recent studies reported that adverse histological features (minimal extrathyroidal extension [mETE], multifocality, vascular invasion, and lymph node [LN] metastases) may be found in 30-60% of lobectomy specimens, questioning the validity of this approach.Aim: To assess the prevalence adverse histological features in occult DTC detected in autopsy studies.Methods: Meta-analysis of autopsy studies of the thyroid in subjects without known history of thyroid cancer.Results: Twenty-nine studies including 8750 subjects fulfilled the inclusion criteria, with incidentally discovered DTC in 740 autopsies (8.5%). Age was reported in 17 studies, with a median age of 61 years (range 41-68 years). Multifocality was reported in 27 studies with a calculated event rate of 28.2% ([CI 23.1-33.8], I-2 = 46.3%), with bilateral involvement in 18% [CI 12.6-25.1]. mETE was reported in 5 studies, with an event rate of 24.5% ([CI 9.3-50.7], I-2 = 88.5%), and the presence of LN metastases were reported in 13 studies with an event rate of 11% ([CI 6.1-19.1], I-2 = 69.5%). Vascular invasion was reported in seven studies with an event rate of 16% ([CI 4-47], I-2 = 86.8%). Of 25 studies with whole body autopsies (722 subjects), 3 cases of distant metastases were reported, of which 2 had fatal metastatic disease (where thyroid origin was not diagnosed before death), and 1 had occult disease.Conclusions: Adverse histological features including mETE, LN metastases, multifocality, and vascular invasion are common in occult DTC. When minimal in size, these adverse histological features do not seem to be markers of aggressive disease and may not be an indication for completion thyroidectomy or radioiodine therapy.

Context: Central precocious puberty (CPP) may be the first presentation of non-classical congenital adrenal hyperplasia (NCCAH) in girls. Data on the prevalence and the clinical phenotype of CPP associated with NCCAH are sparse. Objectives: To study the clinical and laboratory characteristics that could differentiate idiopathic CPP from CPP associated with NCCAH and to determine the prevalence of NCCAH among girls with CPP. Design: Case-control study. Setting: Tertiary pediatric endocrinology institute. Participants and Methods: From 2008 to 2017, 147 girls who had undergone stimulation tests with gonadotropin-releasing hormone and Synacthen were diagnosed with CPP, of whom 7 (4.8%) were eventually diagnosed with NCCAH. These 7 patients together with 30 girls who presented with CPP in1984-2008 and were later diagnosed with NCCAH comprised the NCCAH group. Demographic, anthropometric, clinical, and laboratory data were compared between the NCCAH group and the 140 girls with idiopathic CPP (ICPP group). Results: No between-group differences were found in height, weight, body mass index, bone age, and Tanner stage. Mean basal levels of androstenedione, DHEAS, and 17-OHP were significantly higher in the NCCAH group, although ranges overlapped between the groups, and stimulated cortisol level was higher in the ICPP group. Conclusions: NCCAH was found in 4.8% of girls presenting with true CPP over a 10-year period, and no one parameter could differentiate between the diagnoses. Thus, in girls with true CPP from populations in which NCCAH is prevalent, assessment of adrenal androgens is required and ACTH test should be considered. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. Abstracts presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.

Motivation: Preterm infants’ nutritional management should aim to replicate the intrauterine body composition. However, intrauterine body composition reference charts are lacking. Goal(s): We aimed to construct MRI-based intrauterine body mass (BM), fat mass (FM), percent FM (%FM), fat-free mass (FFM), and percent FFM (%FFM) body composition reference charts. Approach: Fetal body composition was computed from T2-weighted and fat-water images. Body and subcutaneous fat volumes were automatically segmented using neural networks, and BM, FM, %FM, FFM, and %FFM were calculated. Results: Data of 176 participants with apparently normal singleton fetuses were included. All parameters significantly changed throughout gestation, and differences between sexes were seen. Impact: MRI-based intrauterine BM, FM and FFM body composition reference charts may be used as reference for appropriate prenatal growth and may assist in nutritional management of preterm infants.

Motivation: Small for gestational age (SGA) fetuses are undernourished and at higher risk for adverse outcomes; however, conventional assessment methods exhibit limited sensitivity. Goal(s): To stratify perinatal risk using MRI-based body composition metrics. Approach: TruFISP and 2-points Dixon images were used to compute the total fetal volume (TFV), fat-to-body volume ratio (FBVR) and adipose tissue fat signal fraction (FSF) using deep-learning segmentation. Results: SGA fetuses (N=40) with lower FBVR were more likely to require obstetric interventions because of non-reassuring status, while those with reduced TFV were prone to adverse neonatal outcomes. The model’s sensitivity/specificity rates are 85.7%/87.5% and 82.35%/86.4%, respectively. Impact: Quantifying fetal body composition through MRI can offer additional insights into the severity of small for gestational age complicated pregnancies and may help in stratifying perinatal risk.