bluuebunny/crossref_metadata_2025_split huggingface dataset:
7452 A Diagnostically Challenging Case of Hyperandrogenism in Postmenopausal Woman
Authors: Hossain Md Shajjad , Hossain Sadaf , Gautam Bharat , Liao Huijuan , Kumar Salini Chellappan , Rosenthal David S 
Published: October 2024

Abstract
Disclosure: M.S. Hossain: None. S. Hossain: None. B. Gautam: None. H. liao: None. S.C. Kumar: None. D.S. Rosenthal: None.
Background: The diagnosis of new-onset severe hyperandrogenism in postmenopausal women is rarely encountered, posing a unique challenge for clinicians. Ovarian hyperthecosis and androgen-secreting tumors are the usual suspects in post menopause. In our case ovarian hyperthecosis is the primary consideration but elevated 17-OH Progesterone (17-OHP) introduces the potential co-existence of Non classical congenial adrenal hyperplasia (NCCAH) or rare instances of Sertoli-Leydig Cell Tumor (SLCT). Case Presentation: A 70 years old female, with no past medical history, referred to the Endocrinology clinic for significantly elevated testosterone level. She reported excessive hair growth in various areas of her body since 2022, which required shaving almost every day. She also reported male pattern hair loss and weight loss of 15 lbs over the last three months. She denied headache, vision changes, deepening of voice, history of fertility problems and use of exogenous testosterone. Her vital sign were normal. On examination, she had clitoromegaly, terminal hair growth on her upper lip and chin, breast atrophy, male pattern baldness, but no cushingoid or acromegaly features. Blood tests showed significantly elevated total testosterone: 1422 ng/dl (2-45); free testosterone: 147.9 pg/ml (0.2-3.7) and Estradiol: 64 pg/ml (Postmenopausal &lt;31) with low LH: 7.6 mIU/ml (Postmenopausal 10.0-54.7) and FSH: 22.2 mIU/mL (Postmenopausal 23-116). Her serum ACTH, DHEA Sulfate, 11-deoxycortisol, 17 OH pregnenolone, TSH, Free T4, prolactin, IGF-1 were normal while her 17-OHP: 396 ng/dl (&lt;45 ng/dl) was significantly elevated. An ACTH stimulation test showed 17-OHP level of 734 ng/dl at 30 minutes and 901 ng/dl at 1 hour. Pelvic ultrasonography: right ovary of 2.3 x 1.6 x 1.9 cm and the left ovary of 3.1 x 1.8 x 3.0 cm. MRI showed normal adrenal glands but a prominent left ovary. Patient was referred to the Obstetrics department to undergo bilateral oophorectomy for the definitive diagnosis and treatment. Discussion: The current ACTH stimulation test for non-classical congenital adrenal hyperplasia is validated for premenopausal women but lacks standardization in post-menopausal state. In our case, distinguishing the source of elevated 17-OHP between adrenal (NCCAH) and ovarian (SLCT) was difficult. Unexpected asymmetry in ovarian size observed in our case further complicates the scenario, contrasting with the typical symmetrical enlargement seen in ovarian hyperthecosis. Pending surgical pathology will further guide the management. This case highlights the complexity of diagnosing hyperandrogenism in postmenopausal women, emphasizing the significance of thoroughly exploring differential diagnoses and meticulously analyzing laboratory results.
Presentation: 6/2/2024
8281 Continuous Low-Dose Etomidate Infusion For The Management Of Severe Hypercortisolism In Metastatic Adrenocortical Carcinoma
Authors: Jamil Abid , Mohammad Nazar , Narayana Shyam 
Published: October 2024

Abstract
Disclosure: A. Jamil: None. N. Mohammad: None. S. Narayana: None.
Background: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy of the adrenal glands with a poor prognosis that often presents with excess hormone secretion. Approximately, 45% of cases present with hypercortisolism.1 A key component of management is achieving control of hypercortisolism. Though there are multiple enteral therapies that can inhibit cortisol production, few treatment options are available for use in critically ill patients who are not surgical candidates and cannot take oral medications. Though primarily known as a short-acting intravenous anesthetic agent used for sedation, etomidate also inhibits 11-β-hydroxylase, a key enzyme involved in corticosteroid biosynthesis.2 Clinical Case: A 28-year-old woman with metastatic adrenocortical carcinoma with associated hypercortisolism was initially admitted for anemia and thrombocytopenia, with an initial cortisol on admission of 29.3 μg/dl (normal range: 2.3-19.4 ug/dl). Due to her large tumor burden with metastasis to the liver and invasion into the inferior vena cava, she was deemed a poor surgical candidate with a poor overall prognosis. Her hospital course was complicated by acute hypoxemic respiratory failure requiring intubation, and thus her enteral steroidogenesis inhibitors (mitotane, ketoconazole, and metyrapone) were discontinued as none were administrable via nasogastric tube. Consequently, her hypercortisolism worsened rapidly with a cortisol level of 351.3 μg/dl , prompting initiation of continuous low-dose etomidate infusion, which resulted in significant improvements in her cortisol levels. After eight days of etomidate treatment, her cortisol levels reached a goal value of 25.0 μg/dl. However, she then suffered an ischemic cerebrovascular event and multiorgan failure, and was subsequently transitioned to hospice care. Conclusion: Low-dose etomidate infusion is an effective therapeutic agent for hypercortisolism in patients with ACC that are unable to take oral medications. References: 1. Ng L, Libertino JM. Adrenocortical carcinoma: diagnosis, evaluation and treatment. J Urol. 2003;169(1):5-11. doi:10.1016/S0022-5347(05)64023-2 2. Carroll TB, Peppard WJ, Herrmann DJ, et al. Continuous Etomidate Infusion for the Management of Severe Cushing Syndrome: Validation of a Standard Protocol. J Endocr Soc. 2018;3(1):1-12. Published 2018 Oct 26. doi:10.1210/js.2018-00269
Presentation: 6/2/2024
5048 A Rare Cause of Hyperandrogenism in Postmenopausal Women: Ovarian Stromal Hyperplasia
Authors: Mark Shemrine , Shanik Michael Howard , Romao Isabela J 
Published: October 2024

Abstract
Disclosure: S. Mark: None. M.H. Shanik: None. I.J. Romao: None.
Ovarian stromal hyperplasia (OSH) is a rare cause of hyperandrogenism. It is a non-neoplastic proliferation of ovarian stromal cells that leads to the overproduction of testosterone. This case report highlights that OSH should be considered in patients who present with hyperandrogenism.A 49-year-old postmenopausal woman with a past medical history of polycystic ovary syndrome, type 2 diabetes and obesity complained of unwanted hair growth. On the physical exam her BMI was 51. She had an obese body habitus, hirsutism of her chin, chest and back and acanthosis nigricans on her neck. Blood work showed a total testosterone of 203 (2-45 ng/dL) and free testosterone 29 (0.1-6.pg/dL). FSH, LH, DHEAS, estradiol, SHBG and 17 hydroxyprogesterone (17 OHP) were in the normal range. She completed a 1 mg dexamethasone suppression test that was normal. She took spironolactone for hirsutism with minimal relief. Pelvic ultrasound was limited due to body habitus. CT of the abdomen and pelvis showed no adrenal or ovarian masses. The patient had a family history of pancreatic, ovarian, and breast cancer. Given her symptoms and her family history, the patient underwent genetic testing that was negative. She underwent bilateral salpingo-oophorectomy. Pathology revealed bilateral ovarian stromal hyperplasia. After surgery, her total testosterone normalized to 18 ng/dL and free testosterone was 1.6ng/dL with improvement in hair distribution. The patient continued to struggle with her weight and diabetes management.OSH is a non-malignant proliferation of ovarian stromal cells which leads to overproduction of testosterone. It occurs more in postmenopausal women and rarely in women of reproductive age. There is approximately 1 case of OSH in every 1000 cases of hirsutism. Clinical features include obesity, insulin resistance, acanthosis nigricans, acne, and hirsutism. Testosterone levels are usually greater than 150 ng/dL. Differential diagnosis includes PCOS, Cushing’s disease, adrenal or ovarian tumor and non-classic adrenal hyperplasia. Transvaginal ultrasound can be used to assess the ovaries for tumors or increase in size. If negative a pelvic MRI or CT can be done for further assessment. The gold standard for diagnosis would be histological evaluation following bilateral oophorectomy which is curative. Pathology usually shows stromal hyperplasia that is nodular or diffuse. Alternative treatment options include GNRH agonist therapy in patients who are not surgical candidates. Complications of this condition include insulin resistance, acanthosis nigricans and diabetes mellitus. After treatment hyperandrogenism skin changes improve. It is important that clinicians consider OSH as a cause of hyperandrogenism to ensure timely diagnosis and treatment.
Presentation: 6/2/2024
7802 A Review of 21 Cases of Kallmann Syndrome
Authors: Kashima Takemoto , Ishimaru Masanori , Tanimoto Eri , Fukui Sadahiro , Nakamura Chiduko , Ujita Nagisa , Miyagi Hajime , Igarashi Mizuho , Doi Hibiki , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko 
Published: October 2024

Abstract
Disclosure: T. Kashima: None. M. Ishimaru: None. E. Tanimoto: None. S. Fukui: None. C. Nakamura: None. N. Ujita: None. H. Miyagi: None. M. Igarashi: None. H. Doi: None. K. Yoshii: None. Y. Naiki: None. R. Horikawa: None.
Kallmann syndrome is the most common form of hypogonadotropic hypogonadism. The incidence is estimated to be 1 in 10,000 birth boys and 1 in 50,000 birth girls. The goals of treatment for childhood puberty are to induce the progression of secondary sexual characteristics close to physiological sexual maturity, to improve psychosocial problems caused by delayed puberty, and to achieve fertility. Methods.Twenty-one patients (fifteen males and six females) with a diagnosis of Kallmann syndrome who visited our Department between August 2004 and November 2023 were included in the study. The electronic medical records were reviewed retrospectively. Results.The median age at first visit was 15 years and 11 months (13 years and 3 months to 17 years and 7 months). The chief complained were secondary sexual characteristics not yet developed, olfactory disturbance, amenorrhea, decreased growth rate, and micropenis. Three adults had symptoms of Kallmann's syndrome and were seen for close examination. 6 had a history of hearing loss. Family history included 2 cases of hypogonadotropic hypogonadism and a sibling with Sjogren-Larsson syndrome. 9 cases had genetic testing, including KAL1, KAL2, FGF8, IL17D, 1 case each, and 2 gene variants of CHD2.At the time of initial examination, the median testicular volume in males was 1.0 mL (1.0-3.0 ml). Five of the six female patients had no breast enlargement.Endocrine examination revealed that the mean basic LH and LHRH test peak values were 0.25 and 3.40 mIU/mL, respectively; the mean basic FSH and peak FSH values were 0.91 and 4.47 mIU/m, respectively; the mean testosterone level in males was 0.09 ng/mL; and the mean estradiol level in females was 5.58 pg/mL.For the 20 patients, excluding children, gonadotropins (HCG+rFSH) for men and estrogen patches for women were both started at low doses and titrated up to Kaufman therapy in women. Median age at initiation of treatment was 16 years and 5 months (14 years and 1 month to 18 years and 6 months). Bone density increased after the start of treatment. One patient diagnosed with micropenis in infancy was treated with testosterone for micropenis at 2 years and 5 months. Two male patients had a baby with their partners. Discussion.The age of diagnosis (age of first examination) is considerably older than the average age of onset of secondary sexual characteristics, so it is necessary to educate the public so that patients can be examined earlier. The patient's fertility was partially confirmed, and a smooth transition to adult/reproductive medical care can be expected through earlier intervention.
Presentation: 6/1/2024
12270 Adolescent PCOS With Unexpected, Sudden-onset GAD And MDD: A Call For Vigilance In Longitudinal PCOS Care
Authors: Sarkisian K I , Aliabadi T , Stanczyk F Z 
Published: October 2024

Abstract
Disclosure: K.I. Sarkisian: None. T. Aliabadi: None. F.Z. Stanczyk: None.
Background: Polycystic Ovary Syndrome (PCOS) is a multifaceted endocrine disorder often associated with psychiatric disorders, yet the integration of psychiatric monitoring and multidisciplinary care following diagnosis remains understated as a guideline of clinical management of PCOS post-diagnosis. Historically, psychiatric comorbidities in PCOS have been attributed to social and personal factors such as self-image and self-esteem. However, the present patient’s denial of thoughts of disordered eating and lack of self-esteem related to acne or hirsutism challenges these assumptions.Clinical Case: A 13-year-old girl presented with classic symptoms of PCOS, including hirsutism, irregular and painful periods, and premature adrenarche. Laboratory investigations revealed an elevated total testosterone level (58 ng/dL, normal&lt;38 ng/dL), consistent with PCOS. Previously, the patient had not expressed any concerns about mood. However psychological symptoms emerged alongside the physical symptoms. A psychological assessment performed by a licensed therapist revealed moderate-to-severe generalized anxiety disorder (GAD), which had rapidly worsened in a matter of weeks. Both the patient and the patient’s parents denied prior symptoms of moderate-to-severe anxiety before the onset of PCOS symptoms. Over the course of follow-up spanning 47 months, the patient documented symptoms, tracking both mood and PCOS fluctuations. During the follow-up period, the patient’s mood worsened, leading to the formal diagnosis of Major Depressive Disorder (MDD), despite a low assessed risk, no family history, and no symptoms prior to her PCOS development. The diagnoses of GAD and MDD were later confirmed through neuropsychiatric testing by a licensed psychologist.Clinical Lessons: While this presentation may not be considered novel in the context of PCOS, its overwhelming prevalence underscores the need for heightened awareness and research on the topic. The patient, previously considered low-risk for psychiatric conditions, experienced an unexpected onset of GAD and MDD concurrently with the diagnosis of PCOS. It is imperative to recognize that PCOS patients defy the conventional categorization of ‘healthy’ individuals concerning psychiatric care. This notion holds significance not only in clinical practice but also in research endeavors. Merely attributing psychiatric comorbidities in PCOS patients to social factors overlooks the unforeseen presentations of psychiatric disorders, as demonstrated in this patient. These manifestations cannot be solely attributed to social aspects of identity-insecurity, emphasizing the need for a more nuanced, proactive approach to psychiatric care in PCOS. This is crucial for achieving the best long-term prognosis and quality of life in affected individuals.
Presentation: 6/1/2024
6597 An Unusual Case of Klinefelter Syndrome with Both Primary and Superimposed Secondary Hypogonadism
Authors: Krueger Abigail , Pelley Elaine 
Published: October 2024

Abstract
Disclosure: A. Krueger: None. E. Pelley: None.
Introduction: Klinefelter syndrome (KS) (47, XXY) is a sex-chromosome disorder that is a common cause of infertility and hypogonadism in men. Clinical phenotype includes tall stature, delayed or incomplete puberty, small testes (&lt;4ml), gynecomastia, and oligo or azoospermia. The extra X chromosome leads to fibrosis and hyalinization of seminiferous tubules resulting in impaired sperm production. Leydig cells also function abnormally and fail to stimulate with LH. Common biochemical evaluation results in low serum testosterone, elevated FSH and LH concentrations, and azoospermia. Case Report: 37-year-old male presented with long standing history of low libido and a perception that he had never fully progressed through puberty. Physical exam was notable for a height of 6’ 4”, obesity, fine pubic and axillary hair, and testes &lt;4mL bilaterally. Initial biochemical work up revealed low serum total testosterone 43 (ref 300-1080 ng/dL), low free testosterone 8.1 (ref 47-244 pg/mL), inappropriately normal LH 10.8 (ref 0.6-12.1 mlU/mL), and elevated FSH 28.3 (ref 1.0-12.0 mlU/mL). Patient was referred to Endocrinology. Labs were repeated with consistent results in addition to chromosome analysis which confirmed diagnosis of Klinefelter syndrome with (47, XXY) karyotype. Due to inappropriately normal LH and mixed picture of primary and superimposed secondary hypogonadism, an MRI of the pituitary was obtained and revealed an 8mm x7mm x 14mm pituitary macroadenoma. Evaluation for pituitary hypersecretion and other deficiencies was unremarkable. Conclusion: Data from the Danish National registry shows that only 25% of Klinefelter patients are correctly diagnosed. Klinefelter syndrome should be considered in the differential for the evaluation of hypogonadism and infertility. Diagnosis can be made by karyotyping. The degree of impaired spermatogenesis and testosterone production in Klinefelter syndrome can be variable. Biochemical evaluation should be interpreted in conjunction with clinical context. Patients with known causes of primary hypogonadism who demonstrate an inappropriate gonadotropin response require evaluation for causes of secondary hypogonadism. In this case, the inappropriately normal LH was the sole clue leading to the identification of his pituitary macroadenoma.
Presentation: 6/1/2024
12581 Association Between AMH And Psychological Symptoms Across The BMI Spectrum In Peri-menarcheal Adolescents: Preliminary Findings
Authors: Brink Heidi Vanden , McCormick Kathleen C , Lujan Marla E , Chang Jane , Ipp Lisa , Alladeen Anisah , Mendle Jane 
Published: October 2024

Abstract
Disclosure: H. Vanden Brink: None. K.C. McCormick: None. M.E. Lujan: None. J. Chang: None. L. Ipp: None. A. Alladeen: None. J. Mendle: None.
Introduction: Depression, anxiety, and disordered eating are associated with Polycystic Ovary Syndrome in adults and adolescents with PCOS, and significantly impact quality of life as well as intervention and PCOS management success. Elevated AMH and obesity are known risk factors for future PCOS risk. Thus, the objective was to determine whether AMH was associated with the degree of psychological symptoms in the peri-menarcheal years across the adiposity spectrum. Methods: 40 females (n=12 pre-menarcheal, n=28 &lt;2 years post-menarche) underwent a non-fasting blood draw, anthropometry, menstrual history, and a series of surveys to evaluate depression (CES-DC), anxiety (MASC), perceptions of pubertal-related change (POPS), and transdiagnostic psychological processes (rumination, emotional clarity) which can contribute to, and are risk factors for, psychopathology. Anti-mullerian hormone was measured using picoAMH assay (Motive Biosciences Inc). Linear regression analyses were conducted to determine whether AMH, body habitus (lean [n=26], overweight [n=7], obesity [n=7]) were associated with psychological symptoms. A BMI category-by-AMH interaction was included to test the hypothesis that relationship between psychological symptoms and AMH was greater among those living with obesity, who are at an increased risk of progression to PCOS. Results: In the full model, depression scores were positively associated with AMH (p=0.035), and an AMH*BMIcat interaction was trending (p=0.059), such that the association between AMH and depression scores among those with obesity was greater (p=0.026). POPS was positively associated with AMH, only after inclusion of BMI (p=0.029). Lower body appreciation scores and a higher drive for thinness were associated with higher AMH only among those with obesity (BAS: interaction term p=0.087; parameter estimate AMH*OB p=0.045; EDI: interaction term: 0.061, AMH*OB parameter estimate, p=0.019). Rumination and anxiety also demonstrated a BMI-dependent association with AMH; both were positively associated with AMH among participants with obesity (rumination, interaction p=0.014, AMH*OB parameter estimate p=0.007; anxiety interaction p=0.0009, AMH*OB parameter estimate p=0.0002), but the inverse was detected in lean participants (rumination AMH*Lean parameter estimate p=0.014; anxiety AMH*Lean parameter estimate p=0.009). Conclusion: While preliminary, these findings suggest that obesity and elevated AMH in the pre- and early post-menarcheal years is associated with increased symptoms that could affect psychological well-being symptoms. Research is ongoing to validate these findings in a larger, more diverse cohort and to assess subsequent PCOS risk.
Presentation: 6/3/2024
6669 Association Between Serum Levels of Thyroid Function and Per- and Polyfluoroalkyl Compounds Concentrations in Central Precocious Puberty in Girls
Authors: Li Y , Xing Y , Yin X , Yang J , Zang S , Dong T , Pan Y , Dai J , Li P 
Published: October 2024

Abstract
Disclosure: Y. Li: None. Y. Xing: None. X. Yin: None. J. Yang: None. S. Zang: None. T. Dong: None. Y. Pan: None. J. Dai: None. P. Li: None.
Background: Exposure to per- and polyfluoroalkyl substances (PFASs) may interfere with thyroid function in the general population and disturb the timing of puberty onset. Objectives: We investigated the possible relationship between PFASs and thyroid hormone (THs) exposure in girls with central precocious puberty (CPP). Methods: In a prospective study initially established for assessing CPP, 627 serum samples were collected with (n = 226) and without (n = 401) CPP. The concentrations of 25 PFASs, thyroxin (T4), 3,5,3’-triiodothyronine (T3), and 3,3’,5’-triiodothyronine (rT3) were measured. We used logistic regression to examine the association of THs with the odds of having CPP and multiple linear regression to analyze the associations between THs and various PFASs in the CPP and control groups. Results: The levels of T4 in the CPP group were significantly lower than those in the control group, and the levels of T3 and rT3 were significantly higher than those in the control group. After adjusting for confounders, T3 concentrations were associated with 1.526-fold increased odds of having CPP [odds ratio (OR) = 1.526, 95% confidence interval (CI):1.216-1.914]. In the CPP cohort, perfluoroheptanoic acid (PFHpA), perfluoro (2-ethoxyethane) sulphonic acid (PFEESA), and fluorotelomer phosphate diester (6:2/8:2 diPAP) were inversely associated with T3; perfluorobutanoic acid (PFBA) was inversely associated with T4, and PFEESA and 6:2/8:2 diPAP positively associated with T4; PFBA was positively associated with rT3, and perfluorooctane sulfonic acid (PFOS) was inversely associated with rT. In the control cohort, perfluorobutanesulfonic acid (PFBS) was positively associated with T3, and PFEESA and 6:2/8:2 diPAP were inversely associated with T3, and these PFASs had an adverse association with T4. Perfluorohexanoic acid (PFHxA) was positively associated with rT3, and 6:2/8:2 diPAP was negatively associated with rT3. Conclusion: In this study, different measurements of PFASs and THs were observed in the CPP and control groups. Discrepancies in exposure to PFASs were associated with THs in the CPP cohort and healthy girls. Further research is necessary to investigate the mechanism by which PFASs affect the timing of puberty onset and thyroid function.
Presentation: 6/1/2024