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Background: The presence of autoantibodies is a mutual ground for Systemic Lupus Erythematosus (SLE) and Autoimmune Hypothyroidism (AH). Pericardial effusion (PEEF) is a common manifestation for each disease condition however massive PEEF especially with tamponade is a rare occurrence. The coexistence of SLE and AH causing massive PEEF is even rarer and only few cases have been reported. This presents as a diagnostic dilemma whether the massive PEEF is primarily driven by SLE, AH or is it a synergistic effect of both. Clinical Case: A case of a 54-year-old female, hypertensive, non-diabetic diagnosed previously with primary hypothyroidism came in with progressive dyspnea. She has been non-compliant to levothyroxine therapy for 1 year. Upon presentation at the Emergency Department, she was noted to be overtly hypothyroid. Thyroid panel was consistent with primary AH: elevated TSH = 95.66 uIU/mL (NV=0.35-4.94), low FT3 = <1 pg/mL (NV=1.71-3.71), low FT4 = <0.4 ng/dL (NV=0.7-1.48) and elevated anti-TPO = 770.9 IU/mL (NV=<9.0). Ultrasound of the thyroid showed non-uniform echopattern. Pertinent physical findings were an elevated JVP and muffled heart sounds but with stable blood pressure. A 2-dimensional echocardiogram (2D-Echo) confirmed the presence of massive PEEF with doppler evidence of beginning tamponade. Other laboratory findings were anemia, leukopenia, albuminuria and high creatinine level. With this unusual clinical presentation, SLE as a secondary cause of PEEF was entertained. ANA at 1:320 with speckled pattern as well as anti-dsDNA at 516.25 IU/ml (NV=<0-200) were both positive with low complement factor 3 level (C3) = 0.89 g/L (NV=0.9-1.8) fulfilling the Systemic Lupus International Collaborating Clinics (SLICC) criteria for SLE. The patient was given levothyroxine and prednisone for primary hypothyroidism and SLE, respectively. There was then gradual improvement of symptoms with a decrease in the PEEF on repeat 2D-Echo. She was noted to be clinically stable on subsequent follow-ups with further resolution of the massive PEEF. Conclusion: This was a rare case of SLE and AH causing massive PEEF with beginning tamponade which was successfully managed medically. This gave us valuable insight that massive PEEF occurring in hypothyroidism may be secondarily caused by other co-existing disease entities. Although it remained to be a diagnostic dilemma whether the massive PEEF was primarily because of SLE or AH or an effect of both, this case offered another opportunity to further explore the relationship of AH and connective tissue diseases such as SLE.

Background: Von Hippel-Lindau Disease is an inherited disorder characterized as multi-organ system involvement of tumors or cysts occurring at different times from infancy to adulthood. It is a rare condition with a worldwide incidence of 1:50,000. There are only a few reported cases in the Philippines which reflects underdiagnosis of the disease apart from rarity. Clinical Case: A 24-year old female presented with left-sided numbness and weakness of one-month duration. There were no other co-morbidities except for an elevated blood sugar on admission. Family history was unremarkable. Dysmetria and difficulty performing tandem gait was noted on neurologic examination. Cranial MRI with contrast revealed an intensely enhancing solid nodule at the left cerebellar vermis and a non-enhancing cystic nodule at the left side of the dorsal medulla. On further review of history, a palpable epigastric mass was initially noted last 2013. Abdominal CT scan and endoscopic ultrasound biopsy demonstrated multiple benign pancreatic cysts. Due to progression of left-sided numbness and weakness, she underwent suboccipital craniotomy for excision of left cerebellar mass. Histopathology showed cerebellar hemangioblastoma. Initial impression was Von Hippel-Lindau syndrome because of the multisystem involvement of tumors and cysts. Funduscopic examination confirmed the presence of retinal hemangioblastoma. A 24-hour urine metanephrine to screen for pheochromocytoma was found to be negative. Genetic testing was advised to identify presence of specific gene mutation. She was sent home with an anti-hyperglycemic agent and advised to undergo regular monitoring for tumor or cyst progression. Conclusion: Due to its rarity and asynchronous onset of tumors and cysts in multiple organ systems, Von Hippel-Lindau disease poses a diagnostic challenge. In the present case, a good history and the high index of suspicion led to a single diagnosis which accounted for the multi-organ presentation. Hence, an early recognition translates to an early intervention reducing the associated morbidity and mortality.

Background: This study aimed to determine long-term effect of intensive insulin therapy on prevention, progression, and development of chronic diabetes complications, both micro- and macrovascular events. This study also aimed to evaluate long-term sustainability of glycemic control of patients on intensive insulin treatment. Methods: A retrospective review of adult Type 2 diabetes mellitus (T2DM) patients on intensive insulin therapy for ≥7 years. Demographic data, co-morbidities, body mass index (BMI), HbA1c, hospitalization were collated. Majority received intensive insulin therapy with combination of premixed 70/30 given two times a day and fast short acting analogue given premeals three times a day, with the addition of glargine or degludec once a day in some. Results: Among 76 patients, 62% were males and 38% were females. Mean age at diagnosis and last visit were 53 and 65 years, respectively. At time of diagnosis, patient had the following co-morbidities: hypertension (32%), dyslipidemia (13%), non-dialyzable chronic kidney disease (4%), thyroid disease (1%), pulmonary tuberculosis (1%). In terms of long-term complications, only one patient had an acute coronary event, 2 patients had CKD needing dialysis with only 9% recorded to have cerebro-vascular accident during follow-up. There were no blindness and amputation observed. There is a statistical difference between HbA1c levels at time of diagnosis (8.53 ± 1.86) and last follow up (7.83 ± 1.71) ( P = 0.00). After a median follow up of 12 years (7-22 years), glycemic control was sustained with an HbA1c of ≤ 7% and ≤ 8% in 32% and 45% of patients, respectively. Conclusion: With intensive insulin therapy, micro- and macrovascular complications can be prevented significantly. Long-term sustainability of glycemic control was also achieved.

Background: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. Mutations in the gene CYP21A2 encoding adrenal enzyme 21-hydroxylase (P450c21) leads to blockage of corticol synthesis and diversion of its precursors to sex hormone biosynthesis. Cardinal features among females include ambiguous genitalia and progressive virilization. Clinical Case: A 16 year-old female presented with ambiguous genitalia since birth. 46XX karyotype and an elevated 17-hydroxyprogesterone (17-OHP) were noted on initial work-up. Pelvic ultrasound showed remnants of the vagina. Family history was unremarkable. She was managed as a case of congenital adrenal hyperplasia, classic virilizing form, currently maintained on prednisone 5mg/tab, 1 tablet once a day. She underwent vaginoplasty via urogenital mobilization at 1 year of age. Menarche was at 15 years old with irregular menses and scanty in volume. On physical examination, patient had a masculine voice, prominent brow ridge and jaw line, with excess hair on upper lip, chin and lower extremities (Ferriman Gallwey score of 16). Breasts were underdeveloped (Tanner Stage 2) with pubic hair extending to medial thighs (Tanner Stage 5). Clitoris was enlarged at 2.5 cm, with normal vaginal opening and perineum. There were no features of Cushing syndrome. Patient has regular follow-up with her paediatrician, endocrinologist, urologist, and school psychologist. Annual counselling regarding genital reconstruction and monitoring of serum 17-OHP were done. Latest 17-OHP result at 14 years old was 10 nmol/L (NV = 0.82-8.78 nmol/L) via radioimmunoassay. Gender preference was that of a female. She then underwent neurovascular sparing clitoroplasty. Stress doses of hydrocortisone was administered peri-operatively. No urinary incontinence, urinary tract infection nor decrease in clitoral sensitivity was noted post operatively. Recent pelvic ultrasound showed normal-sized anteverted uterus with intact endometrium. Patient is satisfied with the surgical outcome, although sexual function cannot be fully evaluated as she is sexually inactive. Feelings of anxiety and self-consciousness were subdued by sharing her thoughts to her parents and closest friends. She is currently clinically stable with no signs or symptoms of glucocorticoid deficiency or excess. Conclusion: The present case emphasized that in managing congenital adrenal hyperplasia, long-term monitoring and evaluation of multiple clinical aspects including fertility and psychological issues are of great value. Despite genital reconstruction, gender identity problems may still arise. Addition of androgen inhibitors can be considered. Addressing psychosocial issues in such patients is also a continuous process and should not be overlooked.