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Fulltext Burkitt's lymphoma presenting with hypopituitarism: a case report and review of literature

Foo SH, Sobah SA

Endocrinol Diabetes Metab Case Rep, 2014;2014:140029.
PMID: 25045522 DOI: 10.1530/EDM-14-0029

Hypopituitarism is a rare presentation of Burkitt's lymphoma (BL). The purpose of this report is to present a case of BL presenting with panhypopituitarism and to review other case reports of lymphoma presenting with pituitary dysfunction to highlight the distinguishing features of these cases from other benign aetiologies of pituitary dysfunction such as non-functioning pituitary adenomas. We reviewed a total of 11 cases of lymphoma presenting with pituitary dysfunction published from 1998 to 2013 including the present case. The demographics, clinical presentations, laboratory features, radiological findings, histological diagnosis, treatment administered and outcomes were described. Of the total number of patients, 45.5% of the cases had diffuse large B-cell lymphoma while 27.3% had BL. Anterior pituitary dysfunction was more common than posterior pituitary dysfunction at presentation. The other common associated presenting symptoms were painful ophthalmoplegia, cranial nerve palsies and constitutional symptoms. Hypothalamic-pituitary abnormalities were often demonstrated radiologically to be associated with cavernous sinus and/or stalk involvement. All patients who completed immunochemotherapy responded haematologically. Pituitary dysfunction also improved in most cases although the recovery tended to be partial. In conclusion, a high index of suspicion of underlying malignancy, such as lymphoma, should be present in patients presenting with acute pituitary dysfunction associated with painful ophthalmoplegia, rapidly evolving neurological features, radiological features atypical of a pituitary adenoma and constitutional symptoms. An early diagnosis is essential as prompt initiation of definitive therapy will induce disease remission and recovery of pituitary dysfunction.
Fulltext Dopamine-secreting phaeochromocytomas and paragangliomas: clinical features and management

Foo SH, Chan SP, Ananda V, Rajasingam V

Singapore Med J, 2010 May;51(5):e89-93.
PMID: 20593136

Most functional phaeochromocytomas/paragangliomas produce noradrenaline and/or adrenaline. Those that produce dopamine are rare. We describe the distinguishing clinical features of dopamine-secreting phaeochromocytomas and paragangliomas from those that secrete noradrenaline/adrenaline and the impact on their management. We present a case of a dopamine-secreting paraganglioma from our institution and review 14 case reports of dopamine-secreting phaeochromocytomas/paragangliomas published between 1984 and 2008. As observed in the literature, 80% of the tumours were extra-adrenal. Most patients presented with non-specific symptoms or mass effect without the classical presentation of catecholamine excess. The majority were diagnosed with urinary or plasma dopamine. Five patients had malignant tumours and 12 patients underwent surgical resection of the primary tumours. Unlike noradrenaline/adrenaline-secreting phaeochromocytomas/paragangliomas, dopamine-secreting tumours lack a classical presentation, are extra-adrenal and have a higher malignant potential. A routine inclusion of urinary or plasma dopamine as part of catecholamine screening in all suspected phaeochromocytomas and paragangliomas is recommended.
Fulltext Weathering the Crisis: A Case of Thyroid Crisis with Propranolol-Induced Circulatory Collapse Successfully Treated with Therapeutic Plasma Exchange

Cheah JM, Ng D, Low MY, Foo SH

J ASEAN Fed Endocr Soc, 2019;34(2):206-209.
PMID: 33442157 DOI: 10.15605/jafes.034.02.12

Thyroid crisis is a life-threatening form of thyrotoxicosis characterized by multi-system dysfunction. Therapeutic plasma exchange has been reported to be effective in removing excessive circulating thyroid hormones. We present a 46-year-old female with recently diagnosed Graves' disease associated with thyrotoxic cardiomyopathy admitted for thyroid crisis complicated by propranolol-induced circulatory collapse, acute kidney injury and ischemic hepatitis. The tachyarrhythmia was refractory to conventional therapy. Initiation of TPE resulted in rapid clinical and biochemical stabilization.
Fulltext A Cross-sectional Study to Assess Beta-Cell Function in Individuals with Recently Diagnosed Young-Onset Type 2 Diabetes Mellitus and Its' Complications

Nagaratnam S, Rajoo S, Bidin MBL, Rahim NSC, Tharmathurai S, Arip M, et al.

J ASEAN Fed Endocr Soc, 2023;38(2):20-27.
PMID: 38045672 DOI: 10.15605/jafes.038.02.13

OBJECTIVE: The primary objective was to assess beta-cell function of recently-diagnosed young-onset type 2 diabetes mellitus (T2DM) individuals using basal and stimulated C-peptide levels. The secondary objective was to examine the association between C-peptide with metabolic factors and diabetes complications.
METHODOLOGY: A cross-sectional study was conducted for young-onset T2DM individuals aged 18-35 years with a disease duration of not more than 5 years. Plasma C-peptide was measured before and after intravenous glucagon injection. Demographic data, medical history and complications were obtained from medical records and clinical assessment. Continuous data were expressed as median and interquartile range (IQR). Categorical variables were described as frequency or percentage. Multivariable linear regression analysis was used to determine factors associated with C-peptide levels.
RESULTS: 113 participants with young-onset T2DM with a median (IQR) age of 29.0 (9.5) years and 24 (36) months were included in this study. The median (IQR) basal and stimulated C-peptide was 619 (655) pmol/L and 1231 (1024) pmol/L. Adequate beta-cell function was present in 78-86% of the participants based on the basal and stimulated C-peptide levels. We found hypertension, obesity and diabetic kidney disease (DKD) to be independently associated with higher C-peptide levels. In contrast, females, smokers, those on insulin therapy and with longer duration of disease had lower C-peptide levels.
CONCLUSION: Most recently diagnosed young-onset T2DM have adequate beta-cell function. Elevated C-peptide levels associated with obesity, hypertension and diabetic kidney disease suggest insulin resistance as the key driving factor for complications.
Fulltext Management of prediabetes in Malaysian population: An experts' opinion

Mafauzy M, Khoo EM, Hussein Z, Yusoff Azmi NS, Siah GJ, Mustapha FI, et al.

Med J Malaysia, 2020 07;75(4):419-427.
PMID: 32724007

INTRODUCTION: Prediabetes, typically defined as blood glucose levels above normal but below diabetes thresholds, denotes a risk state that confers a high chance of developing diabetes. Asians, particularly the Southeast Asian population, may have a higher genetic predisposition to diabetes and increased exposure to environmental and social risk factors. Malaysia alone was home to 3.4 million people with diabetes in 2017; the figure is estimated to reach 6.1 million by 2045. Developing strategies for early interventions to treat prediabetes and preventing the development of overt diabetes and subsequent cardiovascular and microvascular complications are therefore important.

METHODS: An expert panel comprising regional experts was convened in Kuala Lumpur, for a one-day meeting, to develop a document on prediabetes management in Malaysia. The expert panel comprised renowned subject-matter experts and specialists in diabetes and endocrinology, primary-care physicians, as well as academicians with relevant expertise.

RESULTS: Fifteen key clinical statements were proposed. The expert panel reached agreements on several important issues related to the management of prediabetes providing recommendations on the screening, diagnosis, lifestyle and pharmacological management of prediabetes. The expert panel also proposed changes in forthcoming clinical practice guidelines and suggested that the government should advocate early screening, detection, and intensive management of prediabetes.

CONCLUSION: This document provides a comprehensive approach to the management of prediabetes in Malaysia in their daily activities and offer help in improving government policies and the decision-making process.
Vitamin D status and clinical implications in the adult population of Malaysia: a position paper by the Malaysian Vitamin D Special Interest Group

Lee JK, Chee WS, Foo SH, Lee VK, Sallehuddin H, Khor HM, et al.

Osteoporos Int, 2023 Nov;34(11):1837-1850.
PMID: 37430004 DOI: 10.1007/s00198-023-06841-4

PURPOSE: Vitamin D deficiency and insufficiency is common among populations globally, and in Asia and Malaysia. The purpose of this Position Paper is to propose recommendations for both clinicians and non-clinicians to promote vitamin D sufficiency in Malaysian adults. Formation of a national multisector, multidisciplinary alliance is also proposed to progress initiatives relating to safe sun exposure, adequate vitamin D intake through food fortification, and vitamin D supplementation for high-risk groups.
METHODS: Literature reviews were undertaken to inform summaries of the following: vitamin D status globally and in Asian and Malaysian populations, vitamin D status among individuals with common medical conditions, and current recommendations to achieve vitamin D sufficiency through sun exposure, food intake and supplementation. Recommendations were based on the findings of the literature reviews, recent European guidance on vitamin D supplementation, the 2018 road map for action on vitamin D in low- and middle-income countries, and research recommendations proposed by the Malaysian Ministry of Health in 2017.
RESULTS: Recommendations on assessment of vitamin D in the adult Malaysian population include using serum or plasma 25-hydroxyvitamin D concentration as a biomarker, widespread participation by Malaysian laboratories in the Vitamin D Standardization Program, adoption of the US Endocrine Society definitions of vitamin D deficiency and insufficiency, and development of a comprehensive nationwide vitamin D status study. Specific high-risk groups are identified for vitamin D assessment and recommendations relating to loading doses and ongoing management are also made.
CONCLUSION: This Position Paper provides individual clinicians and national stakeholder organisations with clear recommendations to achieve vitamin D sufficiency in the adult population of Malaysia.
Correction: Vitamin D status and clinical implications in the adult population of Malaysia: a position paper by the Malaysian Vitamin D Special Interest Group

Lee JK, Chee WSS, Foo SH, Lee VKM, Sallehuddin H, Khor HM, et al.

Osteoporos Int, 2023 Nov;34(11):1851-1852.
PMID: 37505306 DOI: 10.1007/s00198-023-06865-w
Fulltext Real-world evaluation of care for type 2 diabetes in Malaysia: A cross-sectional analysis of the treatment adherence to guideline evaluation in type 2 diabetes (TARGET-T2D) study

Lim LL, Hussein Z, Noor NM, Raof ASA, Mustafa N, Bidin MBL, et al.

PLoS One, 2024;19(1):e0296298.
PMID: 38166049 DOI: 10.1371/journal.pone.0296298

AIM: Given a lack of data on diabetes care performance in Malaysia, we conducted a cross-sectional study to understand the clinical characteristics, control of cardiometabolic risk factors, and patterns of use of guideline-directed medical therapy (GDMT) among patients with type 2 diabetes (T2D), who were managed at publicly-funded hospitals between December 2021 and June 2022.
METHODS: Patients aged ≥18 years with T2D from eight publicly-funded hospitals in the Greater Kuala Lumpur region, who had ≥2 outpatient visits within the preceding year and irrespective of treatment regimen, were eligible. The primary outcome was ≥2 treatment target attainment (defined as either HbA1c <7.0%, blood pressure [BP] <130/80 mmHg, or low-density lipoprotein cholesterol [LDL-C] <1.8 mmol/L). The secondary outcomes were the individual treatment target, a combination of all three treatment targets, and patterns of GDMT use. To assess for potential heterogeneity of study findings, all outcomes were stratified according to prespecified baseline characteristics namely 1) history of atherosclerotic cardiovascular disease (ASCVD; yes/no) and 2) clinic type (Diabetes specialist versus General medicine).
RESULTS: Among 5094 patients (mean±SD age 59.0±13.2 years; T2D duration 14.8±9.2 years; HbA1c 8.2±1.9% (66±21 mmol/mol); BMI 29.6±6.2 kg/m2; 45.6% men), 99% were at high/very high cardiorenal risk. Attainment of ≥2 treatment targets was at 18%, being higher in General medicine than in Diabetes specialist clinics (20.8% versus 17.5%; p = 0.039). The overall statin coverage was 90%. More patients with prior ASCVD attained LDL-C <1.4 mmol/L than those without (13.5% versus 8.4%; p<0.001). Use of sodium-glucose cotransporter-2 (SGLT2) inhibitors (13.2% versus 43.2%), glucagon-like peptide-1 receptor agonists (GLP1-RAs) (1.0% versus 6.2%), and insulin (27.7% versus 58.1%) were lower in General medicine than in Diabetes specialist clinics.
CONCLUSIONS: Among high-risk patients with T2D, treatment target attainment and use of GDMT were suboptimal.
Fulltext Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, et al.

Eur J Hum Genet, 2023 Dec;31(12):1421-1429.
PMID: 37704779 DOI: 10.1038/s41431-023-01447-0

Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants (11 males and 8 females). One family had previously been reported. Six variants were novel. We analysed the clinical and genetic findings in our series and compared them with reported BFLS patients. Affected males had classic features of BFLS including intellectual disability, distinctive facies, large ears, gynaecomastia, hypogonadism and truncal obesity. Carrier female relatives of affected males were unaffected or had only mild symptoms. The phenotype of affected females with de novo variants overlapped with the males but included linear skin hyperpigmentation and a higher frequency of dental, retinal and cortical brain anomalies. Complications observed in our series included keloid scarring, digital fibromas, absent vaginal orifice, neuropathy, umbilical hernias, and talipes. Our analysis highlighted sex-specific differences in PHF6 variant types and locations. Affected males often have missense variants or small in-frame deletions while affected females tend to have truncating variants or large deletions/duplications. Missense variants were found in a minority of affected females and clustered in the highly constrained PHD2 domain of PHF6. We propose recommendations for the evaluation and management of BFLS patients. These results further delineate and extend the genetic and phenotypic spectrum of BFLS.