bluuebunny/crossref_metadata_2025_split huggingface dataset:
THU615 Rhabdomyolysis: A Rare Presentation Of Extra-adrenal Neuroendocrine Tumor
Authors: Saleem Marwa , Harman Sherman Mitchell , Targovnik Jerome 
Published: October 2023

Abstract
Disclosure: M. Saleem: None. S.M. Harman: None. J. Targovnik: None.
Introduction:Paraganglioma is a rare neuroendocrine tumor (NET) arising from neural crest progenitors located outside of the adrenal gland and predominantly produce norepinephrine if functional. Here, we present a case of epinephrine producing extra-adrenal sympathetic neuroendocrine tumor. Case: A 66-year-old male with history of resistant hypertension (on amlodipine, lisinopril & metoprolol), hyperlipidemia & obesity presented for evaluation of possible pheochromocytoma/paraganglioma. He reported paroxysmal episodes of muscle spasm & paresthesia accompanied by hypertension (up to 200 mm Hg), palpitation, sweating & tremor lasting about 30-60 minutes. His CPK was elevated up to 428 U/L (NR 30-170 U/L) during those episodes. He reported 7 "major episodes" beginning ∼15 years prior to diagnosis, of which 3 occurred after major surgery with "small episodes" occurring monthly, exacerbated by sun & heat. Family history was remarkable for sister with recurrent rhabdomyolysis. Labs showed elevated epinephrine 181 pg/ml (normal &lt;57), Dopamin 67 pg/ml (normal &lt;10) and normal norepinephrine, significantly elevated 24h urine metanephrine 855 mcg/24h (normal 90-315), normal normetanephrine & dopamine levels. CT showed a 2.2 x 2.2 x 2.1 cm retroperitoneal mass with 84% absolute concerning for possible paraganglioma. FDG-PET and DOTATATE showed hypermetabolic activity (SUV max 6.63) and DOTATATE avid left retroperitoneal mass respectively. After discontinuing beta blocker and optimizing alpha blockage with doxazosin, the patient was referred to endocrine surgery and had a successful resection of this mass and left adrenalectomy. Pathology was consistent with chromaffin cell neoplasm and normal left adrenal gland. Patient had clinical and biochemical resolution of his symptoms post-op. Genetic counseling was done with pending results.
Discussion: Pheochromocytomas & paragangliomas (PPGLs) are rare NET arising from chromaffin cells of the adrenal medulla or neural crest progenitors located outside of the adrenal gland, and predominantly produce epinephrine and norepinephrine respectively. Adrenal medullary tissue secretes epinephrine due to the activity of PNMT, induced by high local levels of cortisol from the adrenal cortex, which attaches a methyl radical to the catechol amino group. Extramedullary sympathetic secretory cells normally lack this enzyme and secrete norepinephrine. Thus, it is likely that the neoplasm we report had ectopic expression of this enzyme. PPGLs have variable signs and symptoms which mainly reflect the hemodynamic and metabolic actions of the catecholamines produced and secreted by the tumors with hypertension being the most common sign. Rhabdomyolysis is an unusual manifestation. This case is unique in that it presented as an extra-adrenal NET predominantly produced epinephrine and presented with rhabdomyolysis.
Presentation: Thursday, June 15, 2023
THU200 Three Cases Of Prepubertal Vaginal Bleeding
Authors: Doi Hibiki , Igarashi Mizuho , Kashima Takemoto , Ujita Nagisa , Konno Hiroaki , Fujioka Akiko , Miyagi Hajime , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko 
Published: October 2023

Abstract
Disclosure: H. Doi: None. M. Igarashi: None. T. Kashima: None. N. Ujita: None. H. Konno: None. A. Fujioka: None. H. Miyagi: None. K. Yoshii: None. Y. Naiki: None. R. Horikawa: None.
Introduction: Children with prepubertal vaginal bleeding (PVB) are usually referred to pediatric endocrinologists, because precocious puberty is one of the important causes of PVB. However, the diagnosis remains challenging due to a wide variety of causative diseases beyond endocrinological disorders. We present three illustrative cases of children with PVB in our institution. Case presentations: Case 1. A 2-year-old girl had suppressed serum LH and FSH levels and elevated estradiol level. She had café-au-lait spots with jagged “coast of Maine” borders on her left chest and back. Her bone X ray showed multiple fibrous dysplasia. The diagnosis of McCune-Albright syndrome was made by a triad of skin, bone and hyperfunctioning endocrinopathy. Case 2. A 5-year-old girl had low serum LH, FSH, and estradiol levels. Her pelvic MRI showed a mass in her vagina and contrast enhancement of the vaginal membrane. Although some malignant tumor had been suspected, vaginal observation using cystoscopy revealed a foreign body of a sponge that seemed to be part of a toy. Her vaginal bleeding disappeared after removal. Our multidisciplinary team concluded that this case was not child abuse. Case 3. A 4-year-old girl had been misdiagnosed as central precocious puberty due to slightly elevated gonadotropin levels. She was referred to our hospital because gonadal suppression therapy with leuprorelin didn’t stop her PVB. Although the observation of her urethra, bladder, vagina, and uterus using cystoscopy revealed no abnormal findings, a small fistula on the membrane of her vaginal opening was noted. Finally, the diagnosis of von Willebrand’s disease type I was made by low level of von Willebrand factor. We speculated that her repeated bleeding was triggered by minor trauma with the background of bleeding tendency. When severe bleeding occurs or is expected to occur, factor VIII containing von Willebrand factor should be administered. Discussion: There are various etiologies of PVB. Detailed history taking and physical examination are quite important, but might be difficult for young pediatric patients. Neoplasms and sexual abuse must be ruled out. In case of suspicion of abuse, the patient’s safety should be guaranteed. Inspection using cystoscopy under general anesthesia is a useful option in recurrent PVB cases. It is critical to make the correct diagnosis because the treatments can be totally different. Conclusion: In PVB cases we need to perform detailed assessments including careful history taking, physical examination and necessary testing considering a broad range of possible diseases.
Presentation: Thursday, June 15, 2023
THU202 Peripheral Precocious Puberty In A 7-year-old Female As A Result Of Exposure To Bath Bombs
Authors: Gordner Chelsea C 
Published: October 2023

Abstract
Disclosure: C.C. Gordner: None.
Introduction: Recent studies have demonstrated a progressive decrease in the age of onset of puberty in children. Endocrine disrupters are increasingly being identified as an important contributing factor to this shift in pubertal timing. We present here a case of peripheral precocious puberty in a 7-year-old female after a brief intense exposure to bath bombs. Clinical Case: A healthy pre-pubertal 7-year-old female used daily bath bombs for 7 days. She developed tender Tanner II breast buds the following week with no other pubertal or adrenarchal signs. Growth chart review revealed stable linear growth without growth acceleration. Bone age x-ray was consistent with chronologic age (CA 7y0m, BA 6y10m). LH, ECL, was 0.058 miU/mL (ref: 0.02-0.3), Estradiol, LCMS, was 2.0 pg/mL (ref &lt; 15), DHEA-Sulfate, LCMS, was 45 mcg/dL (ref: 6-7y: &lt; 72). The breast buds started to resolve after 2 months and were completely gone after 3 months from the initial exposure. Clinical Lessons: Endocrine-disrupting chemicals are found in pesticides, plasticizers, lavender, fennel, and tea tree oils and can lead to precocious puberty, delayed puberty, and/or impact sexual differentiation. Consumer products are often not well labeled to identify these chemicals and often use confusing terminology like “all-natural” and “organic” which can be misleading. Conclusions: Bath bombs should now be added to the growing list of consumer products associated with precocious puberty. Leaders should advocate for better labeling of consumer products to help identify potentially harmful products.
Presentation: Thursday, June 15, 2023
THU205 A Case Of Infant With Familial-Male Limited Precocious Puberty (FMPP) Inherited From Father Due To An Activating Mutation Of The Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene
Authors: Yoo Han-Wook , Ha Jihyun , Jung Mo Kyung , Choi Yunha , Yoo Eun-Gyong 
Published: October 2023

Abstract
Disclosure: H. Yoo: None. J. Ha: None. M. Jung: None. Y. Choi: None. E. Yoo: None.
We present an extremely rare case of FMPP with an activating mutation of the LHCGR gene in a Korean infant. A 16-month-old-boy was brought to the out-patient clinic with complaints of pubic hair, acne and rapid growth acceleration. His father had become aware of the symptoms 4 month before. His grandfather and father had a family history of precocious puberty and profound short stature (Height of grandfather and father: 148 cm and 158 cm respectively). At physical examination, his height was 83 cm (+1.2 SDS) and his weight was 14.3 kg (+2.8 SDS). The testicular volume was 2 mL and pubic hair was appropriate for Tanner stage 2. Stretched penile length was 7 cm (&gt;2 SDS). He did not have any café au lait spots or hyperpigmentation. His bone age was significantly advanced to that of a 4 year old. Laboratory findings showed abnormally elevated serum testosterone (5.74 ng/mL) and slightly elevated α-fetoprotein (14.1 ng/ml; reference 0-10 ng/mL) with suppressed LH level (&lt;0.07 mIU/mL). Serum levels of β-human chorionic gonadotropin, cortisol, 17-hydroxyprogesterone, androstenedione and dehydroepiandrosterone sulfate were within normal range. A gonadotropin releasing hormone (GnRH) stimulation test revealed a prepubertal response(peak LH 0.52). Brain magnetic resonance imaging study was reported to be normal. Ultrasound of the scrotum and adrenal gland were both normal. Due to the patient’s classic presentation and his family history of male-limited precocious puberty, a genetic analysis for LHCGR gene was performed. Molecular genetic analysis identified a pathogenic variant of LHCGR (c.1730 C&gt;T, p.Thr577Ileu), which was previously reported in a FMPP patient. His father and paternal grand father also carry the same mutation. Anti-androgen treatment with bicalutamide (25mg/day) and aromatase inhibition with anastrozole (1mg/day) were initiated. After treatment, there was improvement in pubertal progression, accelerated growth velocity and rate of skeletal maturation without any specific side effects.
Presentation: Thursday, June 15, 2023
THU220 Legal Degree Of Disability In Childhood-Craniopharyngioma Survivors After Follow-up - Results Of The Hit-Endo Study
Authors: Boekhoff Svenja , Eveslage Maria , Beckhaus Julia , Friedrich Carsten , Muller Hermann Lothar 
Published: October 2023

Abstract
Disclosure: S. Boekhoff: None. M. Eveslage: None. J. Beckhaus: None. C. Friedrich: None. H.L. Muller: None.
Craniopharyngiomas are rare low-grade embryonic malformational tumors of the sellar/parasellar area. After a diagnosis during childhood and adolescence, endocrine and hypothalamic long-term sequalae affect the prognosis. Financial resources for psychological rehabilitation and involvement of craniopharyngioma survivors are made available by a legal status of the degree of disability (GdB), according to the German Social Code Book V. This study analyzed the relationship between clinical/psychosocial traits and quality of life (QoL) measures and the resulting GdB. The HIT-Endo study included pediatric craniopharyngioma patients (%lt;18 years of age at the time of diagnosis) and diagnosed before the year 2000. The GdB was evaluated in a cohort of 108 patients following a median follow-up time of 16 years. The GdB at follow-up was evaluated in relation to endocrine, ophthalmological, neuropsychological, and psychosocial factors. 44 patients (41%) did not receive a GdB, three patients (3%) received a GdB of 30-40, 43 patients (40%) a GdB of 50-90 and 18 patients (17%) the maximal GdB of 100. Higher GdB was associated with lower levels education, higher body mass index (BMI SDS), more severe visual impairment, and hypothalamic involvement of the tumor. Patients with a GdB of 100 reported impairments in social and occupational settings, as well as loss of physical and cognitive function, fatigue, dyspnea, and pain problems. In addition, they performed worse on the German Daily Life Ability Scale (FMH) than individuals with lower GdBs. The GdB reflects the long-term effects of craniopharyngioma during childhood and adolescence and is linked to physical and psychosocial problems. A low functional capacity, as measured by FMH scale, may indicate the eligibility for a higher GdB of craniopharyngioma survivors.
Presentation: Thursday, June 15, 2023
THU226 Pituitary Hyperplasia With Optic Chiasm Compression Secondary To Levothyroxine Non-adherence In An Adolescent Patient
Authors: Hawco Cassandra , Bursztyn Lulu , Gallego Patricia , Van Uum Stan 
Published: October 2023

Abstract
Disclosure: C. Hawco: None. L. Bursztyn: None. P. Gallego: None. S. Van Uum: None.
Background: Pituitary hyperplasia is a rare complication of primary hypothyroidism in pediatric patients. There have been multiple reports of unnecessary surgical procedures for this medically treatable condition. Clinical Case: A 16-year-old female was referred for pituitary enlargement. She had presented to a community hospital following an unwitnessed syncopal event, complicated by retrograde amnesia and headache. At the age of 2 she was diagnosed with primary hypothyroidism during work up for similar syncopal episodes. Past medical and developmental history was otherwise non-contributory. She had a long-standing history of medication non-compliance, and had not taken Levothyroxine during the previous 11 months. On her presentation to hospital, a CT scan revealed pituitary enlargement with a hypodensity suspicious for hemorrhage. Pituitary panel was significant for TSH greater than 1000 (0.51-4.30) mIU/L, free T4 of 4 (13-21) pmol/L and Prolactin 98 ng/mL (&lt25) ng/mL. She was subsequently transferred to our tertiary care pediatric hospital for admission and ongoing care. An MRI of the sella identified a 1.0 x 2.3 x 1.7 cm pituitary mass with suprasellar extension and mass effect on the optic chiasm and nerves. There was no associated hemorrhage. The thyroid gland was diffusely enlarged. Visual acuity was 20/60 in both eyes at the time of hospital admission, compared to 20/20 the previous week at her optometrist. Formal visual field testing was abnormal, but unreliable with no clear defects. She was initiated on Levothyroxine 100 mcg daily and closely monitored for adherence and symptom resolution. After two months on this dose, repeat MRI sella showed a decrease of the pituitary mass to 0.8 x 2.1 x 1.0 cm in size, consistent with a diagnosis of pituitary hyperplasia secondary to untreated primary hypothyroidism. After treatment for 3 months, her visual acuity returned to 20/20 in both eyes with normal visual fields. With ongoing adherence to medical therapy, she remained clinically euthyroid with further decrease in her pituitary size, and normalization of both thyroid indices and prolactin[SV1]. Conclusion: This case is a rare presentation of pituitary hyperplasia in the setting of treatment nonadherence in primary hypothyroidism. It emphasizes the importance of monitoring for signs and symptoms of pituitary enlargement when low or non-adherence for levothyroxine treatment is suspected. The resolution of pituitary enlargement with Levothyroxine treatment also reinforces that this condition is best managed medically, avoiding unnecessary surgical procedures.
Reference: (1) Sapkota, S., Karn, M., Sapkota, S. Pituitary hyperplasia in childhood primary hypothyroidism: a review. Childs Nerv Syst. 2021;37;749-762. [SV1]
Presentation: Thursday, June 15, 2023
THU228 Thyrotoxic Periodic Paralysis In Three Adolescent Males
Authors: Ra Esther , Austin Juliana 
Published: October 2023

Abstract
Disclosure: E. Ra: None. J. Austin: None.
Thyrotoxic periodic paralysis (TPP) is a rare but potentially fatal complication of hyperthyroidism associated with Graves disease. Paralysis is due to hypokalemia caused by overactivation of the sodium potassium adenosine triphosphatase (Na+/K+ ATPase). TPP is usually seen in males between 20 - 40 years of age who are of Asian descent. We report 3 Hispanic American adolescent males, as young as 13 years old, who presented with TPP without an existing diagnosis of Graves disease. All three presented with leg weakness and were found to be hypokalemic and ultimately diagnosed with hyperthyroidism. Each patient was supplemented with potassium, either intravenously or orally, with their symptoms resolving within 24 hours. Although TPP is most prevalent in Asian adult males, theorized to be due to an underlying genetic preposition related to a variant of the KCNJ18 gene, there are increasing reports of non - Asian adolescents presenting in TPP. Therefore, pediatric care providers should consider TPP in their differential if a patient presents with weakness and hypokalemia, even without a pre-existing diagnose of hyperthyroidism.
Presentation: Thursday, June 15, 2023
THU236 Mild Asymptomatic Hypercalcemia Secondary To A Novel Calcium-sensing Receptor Mutation
Authors: Tarkoff Joshua 
Published: October 2023

Abstract
Disclosure: J. Tarkoff: None.
Background: Familial hypocalciuric hypercalcemia (FHH) is a rare cause of mild hypercalcemia that is usually secondary to heterozygous mutations of the calcium-sensing receptor (CaSR) with autosomal dominant inheritance. The distinction between this entity and primary hyperparathyroidism can be difficult. Clinical Case: A 15-year-old female presented to the endocrinology clinic for an incidentally found elevated total calcium of 10.9 mg/dl (8.9-10.4) and elevated ionized calcium 5.5 mg/dl (4.8-5.3 mg/dl). Her labs at that time also showed a PTH of 29 pg/mL (12-71) and phosphorus 3.5 mg/dl (2.5-4.5 mg/dl). She denied any symptoms of hypercalcemia and there is no reported family history of mineral disorders or fractures. She does not take any medications. Her physical exam was unremarkable. Our evaluation showed calcium 10.5 mg/dl, phosphorus 4 mg/dl, magnesium 2.2 mg/dl (1.5-2.5 mg/dl) 25-hydroxyvitamin D 32 ng/ml (30-100 ng/ml), fractional excretion of calcium (FeCa) based upon spot urine sample = 0.0104, TSH 1.29 mIU/L (0.5-4.3 mIU/L), alkaline phosphatase 79 U/L (45-150 U/L), and normal renal function. Given her spot FeCa being &lt;0.02, sequencing of the CASR gene was offered to the family because of potential overlap of her FeCa with primary hyperparathyroidism for which the treatment would be surgical (1). Commercial genetic testing was notable for a previously unreported heterozygous nonsense mutation, c.3001C&gt;T (p.Gln1001X). It is expected to disrupt the final 78 amino acids of the protein in its intracellular domain and may play a role in preventing downstream signaling. At follow-up without treatment, her calcium has ranged between 10-10.9 mg/dl and she remains asymptomatic. Clinical lesson/conclusion: Hypocalciuria in the setting of hypercalcemia should raise the suspicion of FHH even without family history. Genetic testing of the CaSR is a crucial step in facilitating the diagnosis of FHH, especially given the importance of distinguishing it from primary hyperparathyroidism.
Reference: (1) Christensen, S.E., Nissen, P.H., Vestergaard, P., Heickendorff, L., Brixen, K. and Mosekilde, L. (2008), Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a follow-up study on methods. Clinical Endocrinology, 69: 713-720.
Presentation: Thursday, June 15, 2023
THU238 Experience In Transition From Pediatric To Adult Care In Chronic Endocrinological Pathology
Authors: Tormo Silvina , Kastelic María Sofía , Forclaz Maria Veronica , Varela Silvana Anabella , Giacoia Evangelina 
Published: October 2023

Abstract
Disclosure: S. Tormo: None. M.S. Kastelic: None. M.V. Forclaz: None. S.A. Varela: None. E. Giacoia: None.
Introduction: Advances in medicine in recent decades have increased the survival of pediatric patients with complex chronic pathologies who reach adulthood. Transition refers to the process followed by young persons with chronic conditions to transfer health care, in our case from the pediatric endocrinologist to the adult endocrinologist. It is a dynamic, complex process and must be planned considering medical, psychosocial and educational needs of the adolescent in the change of care that implies an increase in autonomy. ObjectivesPrimary: describe the demographic characteristics of the population that attended the transitional endocrinology clinic. Secondary: evaluate the result of the TRAQ.5.0 survey (Transition readiness assessment questionnaire) in this population. Material and methods Design: observational, cross-sectional and analytical study. The medical records of 155 patients over 15 years old in follow-up for chronic endocrinological diseases in the transition clinic from November 2018 to August 2022, were analyzed. The patients underwent the TRAQ questionnaire validated in Argentina. Statistical Analysis: Quantitative variables are presented with medians and range and qualitative variables with absolute and relative frequencies. The comparisons between the subgroups were made through the Mann Whitney test, considering a p value &lt;0.05 as statistically significant. Results: 155 patients with a median age of 20 years (r:15-30 years) were included. Most were women (61%). 75 % were derived from pediatrics at our hospital. 81% of them attended accompanied. 98% of the patients completed the Questionnaire (TRAQ). No statistically significant changes were found in the TRAQ score according to sex, age and whether the patients were accompanied or not. 79.8 % of the patients stated that they were studying at the time of follow-up, 11% of patients work. 15% (24 patients) were transferred to adult clinics, of which 87% continue follow-up. 80% of non-transferred patients continue follow up. When comparing the TRAQ questionnaire between the transferred patients and those who continue in follow-up, we found significant differences in medication management with a median of 3.6 in the referred group and 3.1 in the follow-up group p: &lt;0.03, and appointment attendance: with a median of 3 in the referred group, 2.3 in the follow-up group (p &lt; 0.01) Conclusions: The goal of the transition is to reduce loss of follow-up and improve the quality of life of patients through an orderly process. We highlight the usefulness of certain tools, such as the TRAQ questionnaire to assess the preparation of patients for the transition.
Presentation: Thursday, June 15, 2023