Aortic spindle cell sarcoma is a rare neoplasm with poor prognosis that is often found incidentally due to its adverse effects. CT and MRI with contrast are useful imaging modalities, but a tissue biopsy is the gold standard for diagnosis. Tumor resection is the ultimate treatment followed by chemotherapy. Our case was an adult female who presented mainly for shortness of breath, and further imaging workup demonstrated a soft tumor juxtaposed to a major vein with compressive effect. The patient's tumor was resected, and the pathology result confirmed undifferentiated aortic sarcoma. The patient's condition improved and she was discharged with outpatient oncology follow-up and possible treatment.

Introduction Male infertility can be categorized as endocrine and systemic disorders, primary testicular defects in spermatogenesis, sperm transport disorders and idiopathic male infertility. Chromosomal abnormalities are one of the primary testicular defects. The overall incidence of chromosome abnormalities in infertile men is estimated to be around 5.8%. XX male is a rare sex chromosomal disorder in infertile men. We present case of a young patient with infertility, azoospermia, hypergonadotropic hypogonadism and classical (46, XX) karyotype with negative FISH and SRY gene. Case report: 28-Year-old gentleman was referred to adult endocrinology clinic as part of work up for infertility. Initial work up included 2 semen analyses which were consistent with azoospermia. Examination revealed height 180 cm, weight 77 kg, a body mass index 24 kg/m2, normal phenotypic male without gynecomastia and had normal male pattern hair distribution. Genital examination showed normal male phallus without hypospadias, a hypoplastic scrotum, bilateral firm testes, with no varicocele or hydrocele. Labs were suggestive of compensated primary hypogonadism (FSH 47.9 mIU/ml, LH 20.4 mIU/ml, total testosterone 397.9 ng/dl by LC/MS, free testosterone 15.76 ng/dl by equilibrium dialysis, Inhibin B < 10 pg/ml, and anti-Mullerian hormone 0.390 ng/ml. Given normal testosterone levels, he was not started on testosterone replacement. Karyotype analysis revealed 46 XX and FISH was negative for SRY gene. CT imaging of abdomen and pelvis did not reveal any Mullerian structures, prostrate and seminal vesicles reported as normal. Patient met with a Urologist and was informed that testicular sperm extraction will not be a possibility for him. Patient had a detailed consultation with a geneticist for genetic and family counseling. Chromosome microarray analysis was obtained and was normal. Invitae Disorders of sex development (DSD) panel obtained for genetic sequencing of 53 genes including SOX-9, DHH, WNT4, WT1, was found to be non-diagnostic. Conclusion and Discussion SRY negative 46 XX male is a DSD and a rare genetic cause of male factor infertility, with a discrepancy between genotype and phenotypic sex. In the case presented, genetic work up for potential etiologies has been unrevealing. Further studies are needed to identify the genetic causes of the SRY negative 46 XX male phenotype. Physicians involved in care of these patients should orient with clinical management and prognosis. For Classical 46 XX Males seeking fertility, the current options include invitro-fertilization with donor sperm or adoption only. Testosterone replacement should be considered to correct hypogonadism for physical and sexual well-being. Genetic consultation should be sought in all these cases. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

Introduction Male infertility can be categorized as endocrine and systemic disorders, primary testicular defects in spermatogenesis, sperm transport disorders and idiopathic male infertility. Chromosomal abnormalities are one of the primary testicular defects. The overall incidence of chromosome abnormalities in infertile men is estimated to be around 5.8%. XX male is a rare sex chromosomal disorder in infertile men. We present case of a young patient with infertility, azoospermia, hypergonadotropic hypogonadism and classical (46, XX) karyotype with negative FISH and SRY gene. Case report: 28-Year-old gentleman was referred to adult endocrinology clinic as part of work up for infertility. Initial work up included 2 semen analyses which were consistent with azoospermia. Examination revealed height 180 cm, weight 77 kg, a body mass index 24 kg/m2, normal phenotypic male without gynecomastia and had normal male pattern hair distribution. Genital examination showed normal male phallus without hypospadias, a hypoplastic scrotum, bilateral firm testes, with no varicocele or hydrocele. Labs were suggestive of compensated primary hypogonadism (FSH 47.9 mIU/ml, LH 20.4 mIU/ml, total testosterone 397.9 ng/dl by LC/MS, free testosterone 15.76 ng/dl by equilibrium dialysis, Inhibin B < 10 pg/ml, and anti-Mullerian hormone 0.390 ng/ml. Given normal testosterone levels, he was not started on testosterone replacement. Karyotype analysis revealed 46 XX and FISH was negative for SRY gene. CT imaging of abdomen and pelvis did not reveal any Mullerian structures, prostrate and seminal vesicles reported as normal. Patient met with a Urologist and was informed that testicular sperm extraction will not be a possibility for him. Patient had a detailed consultation with a geneticist for genetic and family counseling. Chromosome microarray analysis was obtained and was normal. Invitae Disorders of sex development (DSD) panel obtained for genetic sequencing of 53 genes including SOX-9, DHH, WNT4, WT1, was found to be non-diagnostic. Conclusion and Discussion SRY negative 46 XX male is a DSD and a rare genetic cause of male factor infertility, with a discrepancy between genotype and phenotypic sex. In the case presented, genetic work up for potential etiologies has been unrevealing. Further studies are needed to identify the genetic causes of the SRY negative 46 XX male phenotype. Physicians involved in care of these patients should orient with clinical management and prognosis. For Classical 46 XX Males seeking fertility, the current options include invitro-fertilization with donor sperm or adoption only. Testosterone replacement should be considered to correct hypogonadism for physical and sexual well-being. Genetic consultation should be sought in all these cases. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

Introduction Long term use of systemic glucocorticoids are a common cause of secondary adrenal insufficiency from 1.4-27.5% of cases. On the other hand, Budesonide, a non-halogenated steroid that is widely used for its low systemic absorption is rarely reported to cause secondary adrenal insufficiency. Case A 39-year-old female with significant medical history of anxiety, bipolar disorder, hypothyroidism, type 2 DM and lymphocytic colitis was admitted to the hospital with acute mental status change and lethargy. She reported a 3-week history of diffuse abdominal pain and diarrhea. She endorsed weight loss but denied any fever, vomiting, recent infection or any significant history of hepatitis. In ER, her vitals were notable for a BP of 105/68 mm Hg, Pulse 76 beats/min, temperature 97.5F, pulse oximetry 100% with 2 L nasal canula. On examination she appeared frail, alert but mildly confused. Admission labs showed sodium 143, potassium 4.3, bicarbonate 15, creatinine 1.2, GFR 57, blood glucose 67, Hemoglobin 6.3 and WBC 4.3, UA negative. During the ER course she became hypotensive with SBP in 80s. She was fluid resuscitated with a total of 4 L of normal saline and was eventually started on vasopressor support due to profound hypotension unresponsive to fluids. One unit of PRBC was transfused and she was transferred to MICU for further monitoring. Baseline cortisol level was drawn, and she was started on dexamethasone for presumed adrenal insufficiency, while awaiting the result of her labs. Her cortisol was subsequently confirmed to be 5.5mcg/dl. She was maintained on stress dose steroids and experienced dramatic improvements in her clinical status and BP. A review of her medical history revealed that she was diagnosed with microscopic colitis 5 months prior to the current admission and had been placed on budesonide 9mg/day, tapered slowly to the current dose of 3mg/day. She reported compliance with her budesonide up to the date of the admission. Discussion Iatrogenic adrenal insufficiency from Budesonide is rarely reported in the literature. Budesonide is a common choice for IBD, especially Crohn's disease and microscopic colitis. It has a high first pass metabolism (80-90%), thus limiting its systemic bioavailability to as low as 9-21%. Despite that, a few cases of chronic oral Budesonide use resulting in AI have been reported. As it is metabolized in the liver via CYP450 isoenzymes, concurrent use of CYP450 inhibitors or hepatic cirrhosis can also potentially interfere with its metabolism and increase its systemic bioavailability. According to literature there have been a few descriptions of patients developing AI without prior liver disease, similar to our patient. Caution should therefore be exercised in prescribing budesonide and physicians should have a high index of suspicion when patients on budesonide present with symptoms suggestive of adrenal insufficiency. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.