Displaying publications 41 - 60 of 65 in total

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  1. Lee YL, Wu LL
    J ASEAN Fed Endocr Soc, 2019;34(1):22-28.
    PMID: 33442133 DOI: 10.15605/jafes.034.01.05
    Objectives: Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation.

    Methodology: This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records.

    Results: Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ≥2 years were short irrespective of karyotype.

    Conclusion: Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.

  2. Hussein Z, Bidin ML, Alias A, Thiagarajan M, Latif KA, Ratnasingam J, et al.
    J ASEAN Fed Endocr Soc, 2019;34(1):8-14.
    PMID: 33442131 DOI: 10.15605/jafes.034.01.03
    In Malaysia, acromegaly is under-recognised with only 10-15% of the expected number of cases from prevalence estimates, having been diagnosed and managed in established endocrine centres with access to multidisciplinary care. This is mainly due to lack of awareness and standardised approach in diagnosing this disease resulting in delay in diagnosis and management with suboptimal treatment outcomes. This first Malaysian consensus statement on the diagnosis and management of acromegaly addresses these issues and is based on current best practices and latest available evidence so as to reduce the disease burden on acromegaly patients managed in the Malaysian healthcare system.
  3. Krishnan GD, Yahaya N
    J ASEAN Fed Endocr Soc, 2018;33(2):199-201.
    PMID: 33442128 DOI: 10.15605/jafes.033.02.14
    An apparently well 27-year-old phenotypically male adult was seen at the endocrine clinic for gender assignment. Patient had been raised as a male and identifies as such. Abdominal CT scan showed a unilateral left adrenal mass and karyotyping revealed 46 XX female karyotype. She was diagnosed to have simple virilizing CAH and needed thorough counselling with subsequent management by a multidisciplinary team.
  4. Ooi CP, Kamarruddin NA, Mustafa N, Kew TY
    J ASEAN Fed Endocr Soc, 2018;33(1):69-73.
    PMID: 33442114 DOI: 10.15605/jafes.033.01.12
    A 58-year-old male presented with persistent severe headache, lethargy, decline libido and no neurological deficits. Besides quadruple anterior pituitary hormonal deficiencies, magnetic resonance imaging (MRI) demonstrated an enlarged ring-enhanced non-homogenous pituitary. Following hormonal replacement, these symptoms improved but empty sella evolved. The challenges of diagnosis and management were discussed. Awareness of the unclear etiology and uncertain clinical course of autoimmune hypophysitis in a man in this age group is essential for prompt and appropriate management.
  5. Lim KP, Kok WH, Kamaruddin NA
    J ASEAN Fed Endocr Soc, 2018;33(1):63-68.
    PMID: 33442113 DOI: 10.15605/jafes.033.01.11
    A 69-year-old female complained of intermittent left hip pain for the past 3 years. Biochemical tests revealed normal serum calcium and phosphorus with markedly raised alkaline phosphatase. MRI of the hip revealed extensive marrow signal abnormalities at the left pelvic bone, while CT of the thorax revealed a spiculated lung nodule at the left lower lung lobe. In order to diagnose either primary, metastatic bone tumour or Paget's disease of the bone (PDB), an open biopsy of the left iliac bone was performed. The histopathology of bone biopsy of the left iliac bone was consistent with PDB. A CT guided biopsy of the lung mass done later revealed adenocarcinoma of the lung. She had 18F-FDG PETCECT Scan for staging evaluation and result was suggestive of new bony metastases. Patient was started on IV Zoledronic acid for treatment of the PDB. In view of the stage 4 lung adenocarcinoma with bony metastases, patient was scheduled for palliative chemotherapy.
  6. Lee SP, Chai ST, Loh LT, Ali NM
    J ASEAN Fed Endocr Soc, 2020;35(2):220-223.
    PMID: 33442194 DOI: 10.15605/jafes.035.02.07
    Primary hyperparathyroidism in children and adolescents is rare and often symptomatic at presentation. A 15-year-old bo presented with bilateral genu valgum for two years. Biochemical results were consistent with primary hyperparathyroidism Calcium levels normalized two months after removal of a left inferior parathyroid adenoma.
  7. Krishnan GD, Zakaria MH, Yahaya N
    J ASEAN Fed Endocr Soc, 2020;35(2):163-168.
    PMID: 33442187 DOI: 10.15605/jafes.035.02.03
    Introduction: Vitamin B12 deficiency is more common among metformin-treated subjects although the prevalence is variable. Many factors have been associated with this. The aim of this study is to determine the prevalence of vitamin B12 deficiency and its associated factors among patients with type 2 diabetes mellitus (DM) who are on metformin.

    Methodology: A total of 205 patients who fit eligibility criteria were included in the study. A questionnaire was completed, and blood was drawn to study vitamin B12 levels. Vitamin B12 deficiency was defined as serum B12 level of ≤300 pg/mL (221 pmol/L).

    Results: The prevalence of vitamin B12 deficiency among metformin-treated patients with type 2 DM patients was 28.3% (n=58). The median vitamin B12 level was 419 (±257) pg/mL. The non-Malay population was at a higher risk for metformin-associated vitamin B12 deficiency [adjusted odds ratio (OR) 3.86, 95% CI: 1.836 to 8.104, p<0.001]. Duration of metformin use of more than five years showed increased risk for metformin-associated vitamin B12 deficiency (adjusted OR 2.06, 95% CI: 1.003 to 4.227, p=0.049).

    Conclusion: Our study suggests that the prevalence of vitamin B12 deficiency among patients with type 2 diabetes mellitus on metformin in our population is substantial. This is more frequent among the non-Malay population and those who have been on metformin for more than five years.

  8. Rajakumar R, Rahmatullah IH, Rahim AA
    J ASEAN Fed Endocr Soc, 2020;35(1):133-136.
    PMID: 33442183 DOI: 10.15605/jafes.035.01.24
    Metastasis to the pituitary gland is an unusual situation in clinical practice and is typically observed in those with underlying malignancy with breast and lung being the commonest primary site. However, we report a case of an apparently well 49-year-old female with metastatic lung adenocarcinoma who presented with visual disturbance and diabetes insipidus related to pituitary metastasis as an initial presentation.
  9. Helmi MAM, Hussain S
    J ASEAN Fed Endocr Soc, 2020;35(1):125-128.
    PMID: 33442181 DOI: 10.15605/jafes.035.01.22
    Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is the most severe form of Permanent Neonatal Diabetes with KCNJ11 gene mutation which accounts for most of the cases. We report the first DEND syndrome in Malaysia with heterozygous missense mutation Q52R at KCNJ11 (Kir6.2) gene with delayed presentation beyond 6 months of age and failure to transition to glibenclamide. This report signifies the phenotypical variability among patients with the same genetic mutation and the different response to treatment.
  10. Lee YL, Toh L, Yap F
    J ASEAN Fed Endocr Soc, 2020;35(1):122-124.
    PMID: 33442180 DOI: 10.15605/jafes.035.01.21
    A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys) detected in the CHD7 gene. Detailed assessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.
  11. Lau EYC, Fung YK
    J ASEAN Fed Endocr Soc, 2020;35(1):114-117.
    PMID: 33442178 DOI: 10.15605/jafes.035.01.19
    45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.
  12. Tai YT, Tong CV
    J ASEAN Fed Endocr Soc, 2020;35(1):109-113.
    PMID: 33442177 DOI: 10.15605/jafes.035.01.18
    Proton pump inhibitors (PPIs) are the mainstay of therapy for all gastric acid related diseases and are commonly used in current clinical practice. Although widely regarded as safe, PPIs have been associated with a variety of adverse effects, including hypomagnesaemia. The postulated mechanism of PPI-related hypomagnesaemia involves inhibition of intestinal magnesium absorption via transient receptor potential melastin (TRPM) 6 and 7 cation channels. PPIinduced hypomagnesaemia (PPIH) has become a well recognized phenomenon since it was first reported in 2006. Clinical concerns arise from growing number of case reports presenting PPIH as a consequence of long-term PPI use, with more than 30 cases published to date. In this article, we report 2 cases of PPIH associated with the use of pantoprazole. Both patients presented with severe hypomagnesaemia and hypocalcaemia. One of them had associated hypokalemia and cardiac arrhythmia. A casual relation with PPIs postulated and supported by resolution of electrolyte abnormalities after discontinuation of PPIs.
  13. Nagaratnam S, Karupiah M, Mustafa N
    J ASEAN Fed Endocr Soc, 2020;35(1):105-108.
    PMID: 33442176 DOI: 10.15605/jafes.035.01.17
    Hypophosphatemic osteomalacia is a rare form of metabolic bone disorder in neurofibromatosis type 1 (NF1). The exact disease mechanism of this disorder in NF1 is yet to be established. We present a 44-year-old female known to have NF1, who presents with debilitating bone pain, weakness and multiple fractures. Laboratory investigations showed persistent hypophosphatemia with renal phosphate wasting suggestive of hypophosphatemic osteomalacia. She also had concomitant vitamin D deficiency which contributed to the disease severity. Medical therapy with oral phosphate and vitamin D improved her symptoms without significant changes in fracture healing or phosphate levels.
  14. Kang WH, Wahab NA, Kamaruddin NA
    J ASEAN Fed Endocr Soc, 2020;35(1):102-104.
    PMID: 33442175 DOI: 10.15605/jafes.035.01.16
    Goblet cell carcinoid (GCC) is a rare neoplasm of the vermiform appendix and can be mistaken as a typical neuroendocrine tumour (TNET). The natural history of this disease is more aggressive compared to TNETs and requires a more aggressive approach. We report a case of a 37-year-old male who was initially diagnosed with TNET, but subsequently revised as Tang's A GCC. He underwent appendectomy and right hemicolectomy. Aside from a persistently elevated carcinoembyrogenic antigen (CEA) result, his 18F-fluorodeoxyglucose (FDG) PET/CT and a 68-Gallium DOTATATE PET/CT scan showed no FDG or DOTATATE avid lesions.
  15. Khan AHKY, Zakaria NF, Abidin MAZ, Lim CTS, Kamaruddin NA
    J ASEAN Fed Endocr Soc, 2020;35(1):68-76.
    PMID: 33442172 DOI: 10.15605/jafes.035.01.12
    Introduction: Chronic and post-prandial hyperglycemia are independent risk factors for diabetic complications. Glycemic patterns among hemodialysis end-stage-renal-disease (ESRD) differ as glucose metabolism changes with declining kidney function with more pronounced glycemic fluctuations. The objectives of this study are to determine glycemic patterns on hemodialysis days, the magnitude of post-hemodialysis rebound hyperglycemia (PHH) and their associated factors.

    Methodology: 148 patients on hemodialysis were analysed, 91 patients had end-stage-diabetic-renal disease (DM-ESRD), and 57 patients had end-stage-non-diabetic renal disease (NDM-ESRD). Glycemic patterns and PHH data were obtained from 11-point and 7-point self-monitoring blood glucose (SMBG) profiles on hemodialysis and non-hemodialysis days. PHH and its associated factors were analysed with logistic regression.

    Results: Mean blood glucose on hemodialysis days was 9.33 [SD 2.7] mmol/L in DM-ESRD patients compared to 6.07 [SD 0.85] mmol/L in those with NDM-ESRD (p<0.001). PHH occurred in 70% of patients and was more pronounced in DM-ESRD compared to NDM-ESRD patients (72.5% vs 27.5%; OR 4.5). Asymptomatic hypoglycemia was observed in 18% of patients. DM-ESRD, older age, previous IHD, obesity, high HbA1c, elevated highly-sensitive CRP and low albumin were associated with PHH.

    Conclusion: DM-ESRD patients experienced significant PHH in our cohort. Other associated factors include older age, previous IHD, obesity, high HbA1c, elevated hs-CRP and low albumin.

  16. Mirasol R, Nicodemus N, Jain A, Gadekar AV, Yu-Gan S
    J ASEAN Fed Endocr Soc, 2018;33(1):12-21.
    PMID: 33442106 DOI: 10.15605/jafes.033.01.03
    Objective: To determine the frequency of hypoglycemia in insulin-treated patients with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) in the non-interventional International Operations Hypoglycemia Assessment Tool (IO HAT) study.

    Methodology: This sub-analysis included Filipino patients with T1DM or T2DM, aged 18 years and older, treated with insulin for more than 12 months, who completed the two-part self-assessment questionnaires (SAQ1 and SAQ2) and patient diaries that recorded hypoglycemia during retrospective (6 months/4 weeks before baseline) and prospective period (4 weeks after baseline) (ClinicalTrials.gov number: NCT02306681).

    Results: A total of 671 patients were enrolled and completed the SAQ1 (62 patients with T1DM and 609 patients with T2DM). Almost all patients (100% in T1DM and 99.3% in T2DM) experienced at least 1 hypoglycemic event prospectively. The incidence of any hypoglycemia was also high in the prospective period compared to retrospective period (72.6 [95% CI: 64.8, 80.9] events PPY and 43.6 [95% CI: 37.8, 49.9] events PPY; p=0.001, respectively) in T1DM patients.

    Conclusion: Among insulin-treated patients, higher rates of hypoglycemia were reported prospectively than retrospectively. This indicates that the patients in real-life setting often under-report hypoglycemia. Patient education can help in accurate reporting and appropriate management of hypoglycemia and diabetes.

  17. Dharan SS, Kamaruddin NA
    J ASEAN Fed Endocr Soc, 2017;32(2):169-172.
    PMID: 33442102 DOI: 10.15605/jafes.032.02.12
    Acromegaly is a rare disease with an annual incidence of 3 to 4 cases in a million.1 Diagnosis is often delayed due to the slow progression of the disease. Persistent elevation of growth hormone (GH) in acromegaly causes a reduction in life expectancy by 10 years. Aside from multiple cardiovascular, respiratory and metabolic co-morbidities, it has also been proven to cause an increased incidence of cancer. The main treatment of acromegaly is surgical excision of the functioning pituitary adenoma. Multiple comorbidities, including obstructive sleep apnea (OSA), left ventricular hypertrophy (LVH) and soft tissue swelling, make surgery complicated, if not impossible. Medical therapy to reduce comorbidities may be indicated in certain situations. Somatostatin receptor ligands (SRL) are able to reduce, and possibly normalize, IGF-1 levels.2 Reduction of insulin-like growth factor-1 (IGF-1), the main mediator of GH, is able to resolve headache, sweating, fatigue and soft tissue swelling, and also reduce ventricular hypertrophy. This case report illustrates the successful use of the SRL octreotide LAR in treating acromegaly. It also confirms the observation from several case series that thyroid cancer is the most common malignancy in acromegaly.
  18. Hussain S, Men KK, Majid NA
    J ASEAN Fed Endocr Soc, 2017;32(2):132-138.
    PMID: 33442096 DOI: 10.15605/jafes.032.02.06
    Objectives: We aim to compare the clinical and biochemical profile of metabolic syndrome between obese children below and above 10 years attending Paediatric clinic Hospital Universiti Sains Malaysia (HUSM) from 2006 to 2015. This is to determine if age, particularly the transition to puberty, modifies the prevalence of components of metabolic syndrome in obese children.

    Methodology: The medical records of 84 obese children under 18 years of age seen at Paediatric clinic HUSM from 2006 to 2015 were reviewed. Demographic (age, gender, ethnicity), anthropometric (weight and height), clinical [body mass index (BMI), systolic blood pressure (SBP) and diastolic blood pressure (DBP)] and biochemical [serum total cholesterol (TC), triglyceride (TG), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), fasting plasma glucose (FPG)] parameters were recorded, analyzed and compared.

    Results: Majority of subjects in both age groups were boys, with 68.2% <10 years old. Mean age was 9.69 years (±3.36). The clinical and biochemical parameters of metabolic syndrome were similar between those <10 years old and >10 years, with the exception of BMI, waist circumference, SBP and TG level. Multivariate regression analysis showed that the parameters of metabolic syndrome significantly associated with age ≥10 years were systolic hypertension (adjusted OR 7.17, 95% CI, 1.48 to 34.8) and BMI >30 kg/m2 (adjusted OR 3.02, 95% CI, 1.16 to 7.86).

    Conclusion: There were similar clinical and biochemical parameters of metabolic syndrome in both age groups. The proportions of children with metabolic syndrome were similar regardless of age group. The overall prevalence rate of metabolic syndrome was 27.3%. In view of the alarming presence of components of metabolic syndrome even in children less than 10 years of age, efforts aimed at the prevention of childhood obesity in the community should be intensified.

  19. Loh LT, Lim V
    J ASEAN Fed Endocr Soc, 2017;32(1):57-59.
    PMID: 33442087 DOI: 10.15605/jafes.032.01.11
    Thyroid function is usually normal in differentiated thyroid carcinoma. We describe a case of a female patient who had metastatic follicular thyroid carcinoma (FTC) to the spine and lungs, who was clinically euthyroid but had very low free tetraiodothyronine (fT4) and normal thyroid stimulating hormone (TSH). Free triiodothyronine (fT3) and total T3 (TT3) were normal. Levothyroxine treatment increased fT4 marginally but caused a two- to three-fold rise in fT3 and TT3 along with suppressed TSH. This is likely due to hyperconversion of T4 to T3 from elevation in D2 deiodinase activity in the tumor. This phenomenon has been reported to occur in about 20% of metastatic FTC.
  20. Tong CV, Hussein Z
    J ASEAN Fed Endocr Soc, 2017;32(1):54-56.
    PMID: 33442086 DOI: 10.15605/jafes.032.01.10
    For ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS), when surgery is not feasible, or in cases of severe biochemical disturbances, immunosuppression or mental instability, medical therapy with agents such as etomidate is indicated. We present our experience in using etomidate for a 41-year old female with EAS secondary to a malignant mediastinal paraganglioma. We were able to demonstrate that etomidate can be used effectively to control severe hypercortisolism in a lower dose than previously described.
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