bluuebunny/crossref_metadata_2025_split huggingface dataset:
SUN-159 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency in 1 Month Old Infant
Authors: Mathew Deepa , Speiser Phyllis Witzel , Panayiotopoulos Aristotle , Pisani Laura 
Published: May 2020

Abstract
Background: 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare autosomal recessive disorder caused by mutations in HSD17B3 encoding the enzyme which converts androstenedione to testosterone. It is characterized in 46, XY males by incomplete virilization, including micropenis and hypospadias.
Clinical Case: We report a 1 month old infant who presented with ambiguous genitalia. Prenatal non-invasive screening showed a Y chromosome, however, fetal ultrasound revealed female genitalia. The infant was born with micropenis (~1.4 cm in length) and proximal hypospadius, with enlarged labioscrotal folds and palpable gonads bilaterally. The urethral meatus had been relocated surgically to the glans. There was an apparent vaginal orifice with a normally positioned anus. Initial testing revealed a normal serum 17-OHP (90 ng/dl, n&lt;200 ng/dl) and normal electrolytes. Abdominal US showed normal kidneys. Pelvic US demonstrated no Mullerian structures; gonads thought to be testes were identified in the labioscrotal folds. At 3 months of age, the infant underwent a 3 day HCG stimulation testing with a borderline testosterone response to 132 ng/dl, androstenedione 78 ng/dl and DHT 25 ng/dl. T/A ratio was unremarkable at 1.7 (n&gt;0.8). Thus, hormonal testing was unsupportive of a testicular steroidogenic enzyme deficiency or androgen insensitivity syndrome. Karyotype was confirmed as 46, XY with microarray evidence of multiple regions of homozygosity. Genotyping with a 46, XY DSD panel (GeneDx) revealed a homozygous pathogenic variant c.608 C&gt;T (p.A203V) in exon 9 of the HSD17B3 gene, consistent with a diagnosis of autosomal recessive 17-beta hydroxysteroid dehydrogenase 3 deficiency. Parents are of Arabic descent and are consanguineous. An older brother was also born with ambiguous genital and was later found to be homozygous for the same mutation. This mutation has been identified in the homozygous state in several unrelated affected patients. Previously published functional studies demonstrated loss of enzymatic activity with this missense mutation (1). Male gender was assigned at birth, and parents wish to continue male sex of rearing.
Conclusion: Molecular genetic analysis utilizing a commercially available candidate gene panel for 46, XY disorders of sex development diagnosed 17 beta-HSD3 deficiency in this case where hormonal testing was not informative. Early and correct diagnosis is key in planning medical treatment to facilitate pubertal development.
References: (1) Geissler et al., 1994 Nature Genetics 7(1): 34-9.
SAT-357 First Case in Saudi Arabia Revealing Fahr Syndrome Secondary to Hypoparathyroidism: A Case Report
Authors: Khan Soha , Alhamdan Ali Saleh , AlGhamdi Ahmed , AlShehri Abdulleh , Douba Najah , AlAblani Hamad , Husain Ahmed Z 
Published: May 2020

Abstract
Introduction: Fahr Syndrome is a rare inherited or sporadic neurological disorder. It is characterized as in abnormal calcium deposition or in other words, calcification in the brain which almost always occurs bilaterally. Patients with Fahr syndrome usually presents with neurological symptoms such as seizures, tetany, speech impairment, dementia, deterioration of intelligence, involuntary movements. The etiology of Fahr syndrome is mostly associated with endocrine disorders especially hypoparathyroidism either primary or secondary or pseudo hyperparathyroidism; including adult onset neurodegenerative conditions, infectious disease like intrauterine and perinatal infections or inherited congenital causes are also considered.
Clinical Case The authors report a 33-year-old Ethiopian female not known to any medical illness presented with abnormal involuntary left-hand movement, headache and dizziness. Further examination shows positive Chvostek’s and Trousseau’s signs. In addition, laboratory findings reveal decreased levels of serum calcium (1.227 mmol/L, normal range of 2.2-2.65 mmol/L), serum albumin (33.53 mg/dL, normal range of 35-52 g/L) and parathyroid hormone (0.3pmol/L, normal range of 1.1-8.43 pmol/L), decreased vitamin D serum level (14.52 ng/ml, normal range of 30-75 ng/ml). Interestingly, brain imaging shows bilateral symmetrical subcortical white matter, basal ganglia, cerebellar dentate nuclei calcifications. Thus, Fahr syndrome diagnosis was made. She was promptly treated with calcium and vitamin D replacement. Calcium gluconate was given intravenously with oral calcium carbonate and oral cholecalciferol. The patient recovered with this treatment leading to positive results without any recurring symptoms.
INTERNAL
Conclusion In conclusion, Fahr syndrome is a rare sequel of hypoparathyroidism, mostly presented with neurological symptoms due to hypocalcemia which after correction subdues the occurring manifestation such as in this case presented. Early diagnosis of Fahr syndrome due to hypoparathyroidism is crucial for prompt treatment and reversal of symptoms also to prevent complications.
INTERNAL
SUN-714 Phenotype of Patients Carrying the c.709(-7-2)del PRKAR1A Mutation in a Large Cohort of 41 Patients
Authors: Abderrahmane Fatimetou , Raverot Gerald , Lefebvre Herve , Catherine CARDOT , Vantyghem Marie-Christine , Bertherat Jérôme , Espiard Stéphanie 
Published: May 2020

Abstract
Objective: The Carney Complex (CNC) is a multiple endocrine and non endocrine neoplasia, mostly due to PRKAR1A mutations. The PRKAR1A mutation c.709(-7-2)del located in the intron 7 is one of the three known hot spot. The objective of this study is to described the CNC manifestations presented by patients harboring the c.709(-7-2)del. Methods: This study is a multicenter retrospective longitudinal study. Patients data have been collected from medical files. Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean +/- standard deviation or median (interquartile) according to the distribution. Results: 41 patients [14 index cases and 37 relatives, 29 females, 43.6 ±14.3 years old (yo)] from 15 families have been included. 58% of the cohort including the 14 index cases presented with a primary pigmented adrenal disease (PPNAD) at 24-yo (18-40). For the remaining 17 patients, only 3 patients had normal glucocorticoid biological evaluation while others presented with subclinical hypercortisolism diagnosed at 35-yo (22-50). 7% of the cohort had an abnormal IGF1 and/or GH after oral glucose tolerance test while other patients had normal evaluation with a last test performed at 41 ±15yo. 22% of patients presented with lentigines diagnosed at 43yo (24-51) while others had no dermatological lesions at the last examination performed at 37 ±14yo. 13% of patients had thyroid nodules or papillary carcinoma diagnosed at 46 ±15yo (normal ultrasound for others at 37 ±15yo). At the last cardiac ultrasound, pituitary magnetic resonance imaging (MRI), spine MRI, testicular ultrasound, mammography performed at 40±15yo, 37.9±14.3yo, 46±12yo, 35±13yo and 48±12yo, no patient had cardiac myxoma, pituitary adenoma, schwannoma, testicular calcifying tumor or breast myxoma. Overall, 52% of the relatives did not have any manifestations of the disease. Penetrance of the disease is 65%. Conclusion: The phenotype of patients carrying the c.709(-7-2)del PRKAR1A mutation is restricted to PPNAD, lentigines, fluctuating somatotroph anomalies and thyroid tumors. Follow-up of these patients should also be individualized from other CNC patients. Imaging, especially repeated cardiac ultrasound may not be needed to follow these patients The results of this real life study will be useful to elaborate further recommendation for follow-up of CNC patients.
MON-903 Sporadic Phaeochromocytoma, Pancreatic Neuroendocrine Tumour and a Sacral Hibernoma: A Case Report
Authors: Pandher Ravind Singh , Hibbert Emily 
Published: May 2020

Abstract
Most phaeochromocytomas and pancreatic neuroendocrine tumours are sporadic in nature however the presence of multiple neuroendocrine tumours raises the suspicion of a hereditary endocrinopathy. Hibernomas, benign tumours that morphologically resemble brown fat, do not possess a clear aetiology and a link with other neuroendocrine tumours remains unclear. We report an unusual case of a concurrent sporadic phaeochromocytoma, pancreatic neuroendocrine tumour and a sacral hibernoma. A 61 year old female presented with a 3 month history of abdominal pain which led to the discovery of a lesion in her right adrenal gland and a soft tissue mass at the pancreatic tail on a CT Abdomen. The adrenal lesion was biochemically suggestive of a phaeochromocytoma (plasma normetanephrine 4930 pmol/L, plasma 3-methoxytyramine 580 pmol/L, urinary noradrenaline 5564 pmol/day, urinary dopamine 4720 nmol/day). A 68Ga-DOTATATE-PET-CT scan revealed DOTATATE avid lesions in the right adrenal gland, tail of pancreas and right sacral ala. Following preoperative medical therapy, the patient underwent a right adrenalectomy and a resection of the distal pancreatic lesion.Histopathology confirmed a phaeochromocytoma with no conscipicouous mitotic activity, and the pancreatic tail lesion was consistent with a well-differentiated neuroendocrine tumour (NET) (Ki-67 score &lt;3%). Following normalisation of the serum catecholamines, a biopsy of the sacral lesion was undertaken, which returned positive for a hibernoma. Genetic testing revealed no identifiable genetic mutations.This case reports the synchronous presence of a phaeochromocytoma, pancreatic NET and sacral hibernoma with no identifiable genetic mutation. To date, the association between hibernomas and neuroendocrine tumours has not been fully established, but a few case reports suggest a possible association between MEN1 and hibernomas.
MON-394 Vitamin D Levels and Functional Recovery Following Hip Fracture
Authors: Mohan Sneha , Holte Pamela K , Yuan Brandon J , Sems Stephen A , Kearns Ann E 
Published: May 2020

Abstract
Background: Vitamin D deficiency is common in patients presenting with low energy hip fractures. The relationship between Vitamin D levels at the time of a fracture with long term functional outcomes has not been studied. Identifying a benefit to recovery with adequate vitamin D would support supplementation in elderly patients at risk for hip fracture.
Methods: A retrospective cohort of patients &gt;/= 50 years, who were treated surgically for low energy hip fracture between July 1 2016 and June 30 2018 were identified. The correlation between Vitamin D levels and functional recovery, assessed using the time up and go (TUG) test, survival at 3 months and 1 year, and readmission within 3 months was examined. The Charlson comorbidity index (CCI) at baseline was also assessed.
Results: A total of 216 patients were treated for a hip fracture of which 174 were included with measured baseline Vitamin D levels. A majority were female (112, 64.4%), mean age 79.6 years (+/-11.9), mean Vitamin D level 28.2 ng/ml (+/- 12.4) and mean CCI 5.9 (+/- 2.5). Vitamin D &lt;20 ng/ml was seen in 39 (22.4%) patients and all received appropriate supplementation. 39 (22.4%) individuals died within a year of surgery, among whom 17 (43.6% of 39) passed away within 3 months. 36 (20.7%) were readmitted within 3 months of surgery and 14 (8%) sustained a second fracture within a year. The correlation of Vitamin D levels, taken as a continuous variable, to outcomes, was analyzed using logistic regression. Although not significant, higher Vitamin D was found to be protective against death within 3 months (OR=0.995, p=0.8), but actually increased the odds of death within 1 year (OR=1.008, p=0.62), readmission within 3 months (OR=1.001, p=0.96), second fracture within 1 year (OR=1.017, p=0.33) and failure to recover (OR=1.002, 0.86). After adjusting for age, gender and CCI, Vitamin D levels were non-significantly inversely associated with both TUG 1 and TUG2, with every 1 unit higher Vitamin D associated with a TUG lowered by 0.15 seconds, p=0.42 and 0.44. Vitamin D was poorly correlated to CCI with correlation coefficient of 0.02, p = 0.71.
Conclusions: Our results indicate that Vitamin D levels at the time of a hip fracture do not correlate with patients’ functional outcomes. It is possible that replacing vitamin D eliminated the possible negative impact on functional recovery.
SAT-267 Pregnancy in Acromegaly: Report of Five Cases
Authors: Burcea Iulia Florentina , Dusceac Roxana , Baciu Ionela , Capatina Cristina , Niculescu Dan , Poiana Catalina 
Published: May 2020

Abstract
Introduction: In acromegaly, there are changes in growth hormone (GH), insulin-like growth factor-1 (IGF-1) and insulin, hormones very important in pregnancy as well. Despite novel treatments, pregnancy in acromegaly is uncommon, remaining a challenge for clinicians.
We report seven pregnancies in five women with acromegaly.
Clinical Cases: Five acromegalic patients (17 – 35 years-old) underwent seven pregnancies. All patients had macroadenoma: four were submitted to non-curative neurosurgery and two of them had gamma-knife radiosurgery. One patient had medical treatment prior to curative transsphenoidal surgery (TSS).
One patient being treated with estroprogestative for hypogonadism had a spontaneous pregnancy; three others had pregnancy just before biochemical diagnosis of acromegaly, one of them had also a spontaneous abortion and another successful pregnancy during treatment with somatostatin receptor ligand (SRL); the last patient become pregnant during treatment with SRL, prior to TSS.
Monitoring was made with IGF-1, GH (assay with no distinction of pituitary GH versus placental GH), prolactin (PRL) and visual field; pituitary imaging was performed after pregnancies in all.
All women conceived naturally, two being on treatment with SRL (discontinued after confirmation of pregnancy). No treatment for acromegaly was administered before delivery. All patients had physiologic pregnancies, delivered full-term healthy babies, no malformations or metabolic disruptions; one did not breast-feed; another one had a spontaneous abortion 2 days after confirmation of pregnancy.
No patient developed either hypertension, pre-eclampsia or gestational diabetes.
In three cases, the clinical suspicion of acromegaly had risen during pregnancy and the diagnosis was made 1 year after delivery. The one with three pregnancies had controlled secretion of GH on Lanreotide and GH and IGF-1 levels remained stable during pregnancy.
The woman with gonadotroph deficiency after TSS and GK and substitutive therapy had a decrease in IGF-1 during pregnancy (45 %), which after delivery returned pathologically to before pregnancy values; GH levels remained stable.
The last patient, who became pregnant with uncontrolled acromegaly on Pasireotide, had increased, but stable GH and IGF-1 (2 X upper limit of normal) before, during and after pregnancy. TSS performed 3 years after delivery cured the disease.
Conclusion: From our experience, patients with acromegaly may have normal babies, even in patients with uncontrolled hypersecretion and lack of medical treatment during pregnancy. The consensus is, however, that there is no indication to use medication to control GH hypersecretion or tumor size in acromegaly patients during pregnancy (1).
Reference: (1) Muhammad A, Neggers SJ, van der Lely AJ. Pregnancy andacromegaly. Pituitary. 2017;20(1):179–184. doi:10.1007/s11102-016-0740-3
MON-078 WFS1 Related Disorder in A 4-Month Old Girl
Authors: Kleanthous Kleanthis , Manolakos Emmanouil , Dermitzaki Eleni , Fretzayas Andreas , Urano Fumihiko , Papadimitriou Dimitrios T 
Published: May 2020

Abstract
Background: Idiopathic early-onset central diabetes insipidus (CDI) may be due to mutations of arginine vasopressin-neurophysin II (AVP-NPII (AVP)) or wolframin (WFS1/2) genes (1).
Clinical Case: A 4-month old girl presented to our pediatric endocrinology clinic due to severe polydipsia-polyphagia and polyuria. Plasma and urine glucose and HbA1c were normal and 24h monitoring of urinary output was elevated (4.2ml/kg/h). We proceeded to a modified 5-h water deprivation test followed by 0.1 mcg DDAVP IM. Results were compatible with partial central DI: at 5-hrs weight loss 5%, urine osmolality 155 from 111 at 0΄and 355 mOsm/kg 2hrs after DDAVP administration.
Pituitary MRI was normal with presence of posterior pituitary bright spot and normal pituitary stalk.
We initiated therapy with oral desmopressin acetate titrated at the dose of 70mcg x 3/day under close clinical and biochemical surveillance. Hyponatremia, with high natriuresis &gt;100 mmol/L and elevated BNP occurred the 3rd day. Fludrocortisone 100 mcg x 2/day controlled natriuresis and supplemental oral NaCl 15% 15ml/day was needed to restore normal electrolytes (2).
Marked catch-up growth was observed already at 1 month for height, weight and head circumference.
Methods: Whole exome sequencing was performed targeted to a gene panel related to DI, containing AVP gene, WFS1/2 genes and AVPR2/AQP2 genes.
Result: Two heterozygous variants were revealed: WFS1:NM_001145853:exon8:c. G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I and WFS1:NM_00114585 3:exon8:c.G1832A:p.R611H,WFS1:NM_006005:exon8:c.G1832A:p.R611H reported as possibly damaging in 1/6 and 4/6 prediction programs respectively. These variants will be checked in both parents to confirm the presumed compound heterozygosity pattern in the child.
Conclusion: We present a 4-month old girl with two heterozygous variants of WFS1 gene which may cause early-onset central diabetes insipidus and possibly a WFS1 related disorder (1).
Reference:
(1) Perrotta S et al. Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. Eur J Endocrinol. 2015 Apr;172(4):461-72
(2) Papadimitriou DT, Spiteri A, Attilakos A, Papadimitriou A. Cerebral Salt Wasting Complicated by Central Diabetes Insipidus and Growth Hormone Deficiency. Indian J Pediatr. 2018 Jul;85(7):580-581
SUN-523 Thyroid Storm: A Rare Presentation of HCG Producing Metastatic Choriocarcinoma
Authors: Chivukula Krishna Karthik , Toro-Tobón David , Motazedi Banafsheh , Goyal Rachna Manju 
Published: May 2020

Abstract
Background: The beta subunit of human Chorionic Gonadotropin (hCG) and TSH are very similar and hCG is known to weakly bind the TSH receptor. hCG induced hyperthyroidism has been previously reported as a rare paraneoplastic syndrome in non-seminomatous germ-cell tumors and usually presents with subclinical thyrotoxicosis. We present a noteworthy case of thyroid storm in a patient with hCG producing testicular Choriocarcinoma.
Clinical case: A 19-year-old Hispanic man presented to an outside emergency department (ED) with one day of abdominal pain, nausea, recurrent emesis and subjective fever. He had presented to the same ED 9 days prior with similar symptoms which prompted contrasted CT Abdomen/Pelvis demonstrating hepatic masses and a large right testicular mass, suspicious for primary testicular malignancy. On return evaluation, he was noted to have tachycardia with HR 165, mild scleral icterus, tenderness to palpation of right upper quadrant, abdominal pain and a right scrotal mass (5x5 cm). CBC revealed; WBC 12.0 k/uL (n: 4-10.8), AST: 428 u/L (n: 3-34); ALT: 176 u/L (n: 15-41); total bilirubin: 6.3 mg/dL (n: 0.2-1.3), TSH &lt;0.005 uIU/mL (n: 0.4-4.0) and FT4 5.02 ng/dL (n: 0.7-1.4). Clinical scenario was consistent with thyrotoxicosis concerning for thyroid storm (Burch-Wartofsky Point Scale: 50) requiring intensive care for which he was transferred to our institution. Thyroid US revealed increased thyroid vascularity without nodularity. Laboratory workup revealed negative TG Ab, Anti-TPO Ab, TRAb, and TSIG. Conversely, TBG was elevated at 31.2 mcg/ml (n: 13-30). Initial hCG level was obtained as 6,074. After re-testing with dilution was specifically requested, initial hCG was corrected to 6,760,713. Oncologic workup confirmed diagnosis of hCG producing testicular choriocarcinoma with liver and lung metastases. On admission, he was started on oral methimazole and propranolol as well as intravenous steroids which led to marked symptomatic improvement and normalization of FT4 to 1.37 allowing for discontinuation of antithyroid medication on 7th day of hospitalization. He completed 1 cycle of cisplatin/etoposide and experienced marked reduction of his hCG level to 951,460 which correlated with improvement of his TFTs and resolution of his hyperthyroid symptoms.
Conclusion:
A low threshold of suspicion should be maintained for the possibility of hyperthyroidism in patients with suspected testicular choriocarcinoma, particularly in the context of recent iodinated contrast imaging. If the clinical picture does not support a primary etiology of hyperthyroidism and hCG is not concordantly elevated, re-assessment of hCG by dilution should be considered as hCG assay is also subject to prozone (hook) effect. Hyperthyroidism should be actively managed and closely monitored as response to treatment can be rapid.
SUN-479 Metastatic Renal Cell Carcinoma (RCC) to the Thyroid: Case Report and Clinical Lesson
Authors: Reddy Sreedevi Singidi , Reddy Nisha 
Published: May 2020

Abstract
Background: Metastatic neoplasms to the thyroid gland are rare and have been observed more in autopsy series than in clinical series.
Case: A 71-year old woman presented for thyroid nodule evaluation which was incidentally noted on CT/PET scan. She was diagnosed with renal cell carcinoma (RCC) stage IV (6.4 cm, left nephrectomy) 4 months prior. She had right hemi-thyroidectomy 30 years prior for a benign nodule. She was clinically and biochemically euthyroid with dysphagia and hoarseness in her voice. Thyroid u/s revealed multiple nodules in the left lobe with a dominant 3.6 x 2.9 x 3.6 cm solid, heterogeneous nodule with grade 3 hypervascularity. History positive for 1 cm right renal mass and multiple pulmonary nodules increasing in size thought to be consistent with metastases. The FNA of the dominant nodule was indeterminate, Bethesda III (AUS), GSC suspicious (Affirma, 50% ROM) with negative malignancy classifiers. Patient underwent completion thyroidectomy, and surgical path was consistent multifocal clear cell renal cell carcinoma (CRCC) with the largest focus of 3 cm based on clear cell features and strong positivity for stains: CK OSCAR, RCC, PAX-8 & CD-10. Patient is currently on Pazopanib post thyroid surgery for 18 months, and is stable with no further increase in the size of lung nodules or right renal mass and negative serial PET scans.
Clinical lesson: CRCC represents 3-4% of all adult malignancies and 85% of all primary renal tumors. In clinical series, CRCC is the most frequent source of thyroid metastases and represents 12-34% of all secondary thyroid tumors. About 17% of patients with CRCC have metastatic disease at diagnosis. Metastases can be synchronous or metachronous to the primary tumor. Latency from nephrectomy to diagnosis of thyroid mets varies from 2 months-21.9 years. Metastases can be solitary (more common), multiple or diffuse. Radiological findings typically reveal hypoechoic and vascularized mass on ultrasound and cold on thyroid scan. Metastases to thyroid can pose diagnostic problem and be a source of confusion in cytology interpretation. Metastatic CRCC can simulate morphologically primary thyroid neoplasm such as Hurthle cell neoplasm or thyroid carcinomas with clear cell changes. Metastatic carcinoma within the thyroid gland is negative for thyroglobulin, TTF-1, calcitonin unlike primary thyroid cancer. CRCC is usually positive for periodic acid-Schiff and Oil red O, vimentin, and CD10. The mean survival in patients with CRCC who had thyroidectomy alone or with adjuvant treatment was 3 years.
Conclusion: Thyroid metastases should be considered in patients with thyroid nodules and positive history of RCC. The preoperative distinction between primary and secondary tumors is difficult. Immunohistochemistry is a useful method for the evaluation of patients with suspected thyroid nodules.