Clinico-pathologic profile and outcomes of pediatric endocrine patients managed by endocrine surgeons: Experience over three decades in a tertiary center in India.

BACKGROUND: Pediatric endocrine disorders requiring surgical intervention are rare and so are experienced surgeons dealing with these. The aim of the current study was to investigate disease profile and perioperative outcome of pediatric patients with surgical endocrine disorders in an endocrine surgery unit. METHODS: This retrospective study (Sep 1989-Aug 2019) consisted of pediatric endocrine surgery patients (<18 years) who were managed by a team of pediatric endocrinologists and endocrine surgeons at our center. Patients were divided into three cohorts consisting of a decade each. Clinico-pathologic variables, perioperative events operative and follow-up details were recorded. RESULTS: A total of 332 children were included and their mean age was 14.6 ± 3.9 years (M:F = 1:1.6). Thyroid disorders were most prevalent (59.8%), followed by adrenal (28.2%), parathyroid (10.4%), and pancreas (1.5%). Incidence of benign, malignant, and congenital/developmental disorders were 65.4, 28.1 and 8.3, respectively. Familial association was observed in 8.9% children, which is highest among pheochromocytoma patients. Overall, 201 thyroidectomies + associated procedures, 35 parathyroidectomies, 96 adrenal and paraganglioma resections, and 5 pancreatic procedures were performed. Median hospital stay was 5.6 ± 4.1 days. The number of cases increased significantly over 3 decades. Clinical profile and outcome did not vary except for significant decrease in incidence of malignant pathology (p = 0.04) and increase in VHL cases (p = 0.04) in the last decade though overall increase in familial cases was nonsignificant (p = 0.11). No perioperative mortality was observed except for 3% after adrenalectomy. CONCLUSION: A team of dedicated endocrine surgeons and pediatric endocrinologists is effective in management of pediatric endocrine surgery.

Prevalence of polycystic ovary syndrome and its clinical and hormonal profile in young females with type 1 diabetes mellitus: experience from a teaching institution of India.

OBJECTIVE: To investigate the prevalence of polycystic ovary syndrome and its clinical and hormonal profile in females with type 1 diabetes. MATERIALS AND METHODS: 65 T1DM females were evaluated for presence of PCOS by Rotterdam ESHRE/ASRM consensus criteria and compared with age and BMI matched females with PCOS without diabetes and females with T1DM without PCOS. RESULTS: According to Rotterdam criteria 18/65 (27%) had PCOS. Prevalence of androgen excess, hirsutism, menstrual dysfunction and PCOM was 26%, 3%, 21% and 52%, respectively. Females with T1DM who had PCOS did not differ from females with T1DM without PCOS. When the group of T1DM with PCOS was compared with PCOS females without diabetes, they had significantly lower hirsutism score (median, IQR; 1.5, 0-3 vs. 11.5, 0-16.5, p = 0.04), significantly higher waist hip ratio (0.91, 0.89-0.99 vs. 0.86, 0.80-0.89, p = 0.004) and SHBG (in nmol, 54.4, 38-86.2 vs. 28.3, 20.4-37.4, p = 0.004). CONCLUSION: Females with T1DM have a high prevalence of menstrual abnormalities, hyperandrogenism and PCOS which is not related to metabolic control, age of onset of diabetes or insulin dose. Polycystic ovary syndrome, hyperandrogenism, type 1 diabetes, menstrual irregularity, hirsutism.

Bronchial Carcinoid Tumor in an Adolescent Female: Diagnosis and Management by a Multi-Disciplinary Team.

Bronchial carcinoid is the most common primary malignant lung tumor in children; however, it remains a very rare diagnosis due to the overall low incidence of childhood lung malignancies. We report a case of a 17-year-old girl with respiratory symptoms who was initially misdiagnosed as a case of COVID pneumonia. She was later detected to have a right mainstem bronchial carcinoid which was managed successfully by a multi-disciplinary team.

Long-Term Outcomes of Paediatric-Onset Craniopharyngioma: A Retrospective Analysis from a Tertiary Care Centre in North India.

Background: Craniopharyngiomas are associated with long-term morbidity in the form of hormone deficiencies, visual deficits, and hypothalamic obesity. Objective: To study the long-term outcomes, including cure rates, endocrine dysfunction, visual dysfunction, hypothalamic obesity, and mortality in pediatric-onset craniopharyngiomas. Methods: A retrospective data analysis of pediatric (onset <18 years) craniopharyngioma diagnosed between 2003 and 2018. Data were collected from electronic hospital records, case files, and direct patient interviews. Results: The mean age at presentation was 10.4 ± 4.5 years (n = 62). The median duration of symptoms at diagnosis was 6 months (3-13 months). At presentation, central diabetes insipidus was present in four (6.5%), central hypothyroidism in 27 (43.5%), secondary adrenal insufficiency in 20 (32%) and delayed puberty in 15 (24%) patients. Hypothalamus was involved in 59/60 patients (98%). At last visit, 22.6% were obese in comparison to 4.6% at presentation, and anterior pituitary deficiency was present in 90% of the patients. Sixty-one percent patients (n = 62) had delayed puberty and 67% (n = 53) had short-stature. Out of 35 short children, nine (14%) children who received growth hormone had significant increase in height SD score (-3.8 (1.4) at start vs. -2.9 (1.2) at last follow-up; P = 0.008). Tumor progression was significantly less in the group that received RT compared to those who did not (8% vs. 39%; P = 0.002). Conclusion: Childhood-onset craniopharyngioma results in significant morbidity. The prevalence of pituitary hormones deficiency, visual deficits, and obesity are high at long-term follow-up. Incomplete tumor removal is also frequent. Thus, long-term monitoring is necessary for the timely management of the morbidities associated with craniopharyngioma.

Prevalence and epidemiological profile of celiac disease in children with type 1 diabetes mellitus: Experience from a tertiary care center of India.

BACKGROUND: The HLA associations of celiac disease (CD) in north Indians differ from that in Europeans. Our dietary gluten is among the highest in the world. Data on CD in people with diabetes (PWD) in north India is scant. OBJECTIVE: To estimate the prevalence and clinical profile of CD in children with type 1 diabetes (T1D). RESEARCH DESIGN AND METHODS: Retrospective review of case records of PWD with onset ≤18 years of age, registered between 2009 and 2020, having at least one anti tissue-transglutaminase (anti-tTG) serology report. RESULTS: Of 583 registered PWD, 398 (68.2%) had celiac serology screening. A positive report was obtained in 66 (16.6%). Of 51 biopsied people, 22 (5.5%) were diagnosed to have CD, 12 in the first 2 years of diabetes onset. Symptomatic CD at diagnosis was seen in 63% (14/22). Age at diabetes onset (median [IQR] age 5.5 years, [2-12]) was lower in PWD and CD compared to PWD alone (10 years, [7-14], p < 0.016). Of 36 biopsied children with anti-tTG >100 au/ml, 20 (55.5%) had CD, while 2 out of 15 (13.3%) of those with lower anti-tTG titer had histopathology suggestive of CD. Of 23 seropositive children not diagnosed with CD, 5 of 8 with anti tTG >100 au/ml, and all 15 with lower anti-tTG, had normalization of titers over the 24 (10-41) months. CONCLUSIONS: Our prevalence of CD is comparable to international data. Celiac disease was common with younger age at onset of T1D and higher titer of celiac serology. A high proportion was symptomatic of CD at diagnosis.

Cushing's Disease in Children: A Review.

Cushing's disease is rare in the paediatric age group. The disease manifestations are similar to that seen in adults. Most of the management protocols have, therefore, been adopted from experience in adults and the therapeutic strategies employed in the latter group. Management of paediatric Cushing's disease poses significant challenges with regard to achieving an optimal growth, a proper body composition, an adequate bone health and reproductive capability as well as a good quality of life. This article reviews the special clinical, biochemical, radiological, surgical, and adjunctive therapeutic considerations in paediatric Cushing's disease.

Adolescent polycystic ovary syndrome according to the international evidence-based guideline.

BACKGROUND: Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging because features of normal pubertal development overlap with adult diagnostic criteria. The international evidence-based PCOS Guideline aimed to promote accurate and timely diagnosis, to optimise consistent care, and to improve health outcomes for adolescents and women with PCOS. METHODS: International healthcare professionals, evidence synthesis teams and consumers informed the priorities, reviewed published data and synthesised the recommendations for the Guideline. The Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) framework was applied to appraise the evidence quality and the feasibility, acceptability, cost, implementation and strength of the recommendations. RESULTS: This paper focuses on the specific adolescent PCOS Guideline recommendations. Specific criteria to improve diagnostic accuracy and avoid over diagnosis include: (1) irregular menstrual cycles defined according to years post-menarche; > 90 days for any one cycle (> 1 year post-menarche), cycles< 21 or > 45 days (> 1 to < 3 years post-menarche); cycles < 21 or > 35 days (> 3 years post-menarche) and primary amenorrhea by age 15 or > 3 years post-thelarche. Irregular menstrual cycles (< 1 year post-menarche) represent normal pubertal transition. (2) Hyperandrogenism defined as hirsutism, severe acne and/or biochemical hyperandrogenaemia confirmed using validated high-quality assays. (3) Pelvic ultrasound not recommended for diagnosis of PCOS within 8 years post menarche. (4) Anti-Müllerian hormone levels not recommended for PCOS diagnosis; and (5) exclusion of other disorders that mimic PCOS. For adolescents who have features of PCOS but do not meet diagnostic criteria an 'at risk' label can be considered with appropriate symptomatic treatment and regular re-evaluations. Menstrual cycle re-evaluation can occur over 3 years post menarche and where only menstrual irregularity or hyperandrogenism are present initially, evaluation with ultrasound can occur after 8 years post menarche. Screening for anxiety and depression is required and assessment of eating disorders warrants consideration. Available data endorse the benefits of healthy lifestyle interventions to prevent excess weight gain and should be recommended. For symptom management, the combined oral contraceptive pill and/or metformin may be beneficial. CONCLUSIONS: Extensive international engagement accompanied by rigorous processes honed both diagnostic criteria and treatment recommendations for PCOS during adolescence.

Cardiovascular disease risk in the siblings of women with polycystic ovary syndrome.

STUDY QUESTION: Do the siblings of Asian Indian women with polycystic ovary syndrome (PCOS) manifest increased cardiovascular disease (CVD) risk by carotid intima-media thickness (CIMT) and brachial artery flow-mediated dilatation (FMD)? SUMMARY ANSWER: Siblings had functional endothelial dysfunction (FMD was reduced) when compared to age and BMI-matched controls while sisters but not brothers had structural endothelial dysfunction (CIMT was increased). WHAT IS KNOWN ALREADY: Siblings of women with PCOS have increased metabolic risk but it varies with ethnicity. Among Asian Indians the only previous study has shown reduced FMD in brothers. STUDY DESIGN, SIZE, DURATION: This study was a tertiary care hospital-based cross-sectional case control study in the outpatient department of the endocrine clinic over 18 months. In total, 41 brothers and 35 sisters of women with PCOS (diagnosed by 2003 Rotterdam criteria) were recruited. PARTICIPANTS/MATERIALS, SETTING, METHODS: Age (±2 years), sex and BMI- (±1 kg/m2) matched controls were selected. Cases and controls underwent clinical and biochemical investigations. Cardiologists performed doppler ultrasonogram to determine CIMT and FMD in a blinded fashion. MAIN RESULTS AND THE ROLE OF CHANCE: FMD was decreased in brothers [median 12.3% interquartile range (5.1, 19) versus 18.4% (12.6, 21.5), P = 0.002] and in sisters [10.8% (5.8, 17.2) versus 14.7% (11.4, 18.2), P = 0.027] when compared to controls. CIMT was higher in sisters [median 0.4 mm (0.35, 0.5) versus 0.3 mm (0.3, 0.4), P= 0.002] when compared to controls but not in brothers. Metabolic syndrome was more common in brothers (27% versus 5% in controls, P = 0.007) even after matching for age and BMI. Insulin resistance (homeostatic model assessment for insulin resistance and acanthosis) was higher in brothers as compared to controls. Dehydroepiandrosterone sulphate was significantly elevated in brothers. LIMITATIONS, REASONS FOR CAUTION: There may have been referral bias of patients with PCOS in a tertiary care institute, and the radiological assessment was performed by two cardiologists serially on different time frames over the study duration. Power was only 50% in CIMT for brothers. WIDER IMPLICATIONS OF THE FINDINGS: Siblings of women with PCOS had higher CVD risk over and above the already pre-existing higher metabolic risk associated with Asian Indian ethnicity and therefore the siblings require vigilant management. Endothelial dysfunction and insulin resistance seems to be a heritable trait of PCOS independent of obesity, which if confirmed in other ethnicities would have important implications. STUDY FUNDING/COMPETING INTEREST(S): Funded by Intramural Research Grant (PGI/DIR/RC/943/2013) from the Sanjay Gandhi Postgraduate Institute of Medical Sciences. No competing interests.

Anti-Müllerian Hormone in PCOS: A Review Informing International Guidelines.

Polycystic ovary syndrome (PCOS) affects 8-13% of women. The Rotterdam diagnostic criteria include polycystic ovarian morphology (PCOM) on ultrasound, but given recognized challenges, serum anti-Müllerian hormone (AMH) is proposed as an alternative. To inform international PCOS guidelines, a systematic review was completed. Key identified gaps include large international studies in well-defined populations across the lifespan, clustering of AMH with PCOS features, relationships to long-term health outcomes, and improved quality, assay standardization, and sample handling, all needed to determine cut offs. Here we identify research priorities to address these gaps and enhance AMH utility in PCOS. Once issues are addressed, AMH levels could replace more costly and less accessible ultrasound in PCOS diagnosis.

Polycystic ovary syndrome in adolescents.

Menstrual irregularity and evidence of hyperandrogenism are characteristic features of polycystic ovary syndrome (PCOS) in adolescents. Diagnosis of PCOS is challenging as clinical features cannot be differentiated from the events of normal development. The specific aetiology of PCOS is not known but it is a complex disease resulting from interplay of genetic susceptibility, intrauterine, extra-uterine and environmental factors. Obesity and insulin resistance are common associations, because of which patients are at high risk for metabolic and cardiovascular diseases. Lifestyle modifications are recommended in all patients with pharmacological agents to control features of hyperandrogenism and menstrual disturbances. This chapter discusses the pathogenesis of PCOS and diagnosis of PCOS in adolescents and the difficulties in diagnosis. In brief the associated co-morbidities and management are discussed.

Familial clustering of metabolic phenotype in brothers of women with polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a complex polygenic endocrine disorder. Familial clustering of phenotype has been known and it endorses the heritability of the disease. Among brothers of women with PCOS, we found significantly higher waist circumference, elevated blood pressure and insulin resistance when compared with age and BMI matched controls. Serum DHEAS level (6.2 vs. 4.5 µmol/L) was also significantly elevated among brothers. These findings in Indian ethnicity are concordant with previous studies and emphasize the need for counseling the first-degree family members of women with PCOS for lifestyle modification to reduce future risk of metabolic syndrome. We reiterate that insulin resistance (independent of obesity) and DHEAS may represent a PCOS phenotype. Funding agency - intramural grant Sanjay Gandhi Post Graduate Institute of Medical Sciences. CTRI registration number CTRI/2017/02/007891.

An International Consortium Update: Pathophysiology, Diagnosis, and Treatment of Polycystic Ovarian Syndrome in Adolescence.

This paper represents an international collaboration of paediatric endocrine and other societies (listed in the Appendix) under the International Consortium of Paediatric Endocrinology (ICPE) aiming to improve worldwide care of adolescent girls with polycystic ovary syndrome (PCOS)1. The manuscript examines pathophysiology and guidelines for the diagnosis and management of PCOS during adolescence. The complex pathophysiology of PCOS involves the interaction of genetic and epigenetic changes, primary ovarian abnormalities, neuroendocrine alterations, and endocrine and metabolic modifiers such as anti-Müllerian hormone, hyperinsulinemia, insulin resistance, adiposity, and adiponectin levels. Appropriate diagnosis of adolescent PCOS should include adequate and careful evaluation of symptoms, such as hirsutism, severe acne, and menstrual irregularities 2 years beyond menarche, and elevated androgen levels. Polycystic ovarian morphology on ultrasound without hyperandrogenism or menstrual irregularities should not be used to diagnose adolescent PCOS. Hyperinsulinemia, insulin resistance, and obesity may be present in adolescents with PCOS, but are not considered to be diagnostic criteria. Treatment of adolescent PCOS should include lifestyle intervention, local therapies, and medications. Insulin sensitizers like metformin and oral contraceptive pills provide short-term benefits on PCOS symptoms. There are limited data on anti-androgens and combined therapies showing additive/synergistic actions for adolescents. Reproductive aspects and transition should be taken into account when managing adolescents.

ß cell function and insulin resistance in lean cases with polycystic ovary syndrome.

Obesity is a major factor in development of insulin resistance (IR) and metabolic features in polycystic ovary syndrome (PCOS) patients. Nearly two-thirds patients with PCOS (30 of 37 confirmed cases of PCOS) in our previous community based study were lean, in contrast to Caucasians. Metabolic parameters including IR and ß cell function have not been characterized well in this group of lean PCOS. To study the metabolic features including IR and ß cell function in lean PCOS patients, 53 patients with BMI, <23 kg/m2 were compared with 71 obese PCOS and 45 age and body mass index matched controls. Lean patients had similar ß cell function and IR as compared to controls and obese patients, though the latter group had more metabolic abnormality. Fasting c-peptide and its ratio to glucose were significantly higher in lean patients compared to controls. In subset of subjects with five point OGTT, disposition index and Matsuda index (MI) showed significant negative correlation with BMI and blood pressure. MI also negatively correlated with waist, WHR, and HOMAB. High fasting C-peptide is probably a class effect as is seen in both lean and obese PCOS.

Oncogenic osteomalacia: role of Ga-68 DOTANOC PET/CT scan in identifying the culprit lesion and its management.

OBJECTIVE: The aim of this study was to evaluate the role of 68Ga-DOTANOC positron emission tomography (PET)/CT scan in localization of culprit lesion for biopsy and required intervention [surgical excision/radiofrequency ablation (RFA)] in patients with long-standing oncogenic osteomalacia (OOM)/tumour-induced osteomalacia. METHODS: 17 patients (8 males and 9 females) underwent 68Ga-DOTANOC PET/CT scan. The patients referred with clinical and biochemical evidence of hypophosphatemia and raised fibroblast growth factor-23. Qualitative and semi-quantitative parameters were used to identify culprit lesions. RESULTS: 68Ga-DOTANOC PET/CT scan revealed 52 lesions in 17 patients, and 37/52 of these lesions were tracer avid. 26/37 lesions were non-specific focal tracer-avid skeletal lesions (fractures or degenerative changes). 11/37 tracer-avid skeletal lesions present in 9 patients (3 lesions in 1 patient and 1 each in rest of the 8 patients) were highly suspicious for culprit lesions in view of high maximum standardized uptake value (SUVmax) (range 1.5-15.4; mean 7.0 ± 4.6), lesion size (0.9-5.0 cm; mean 3.3 ± 1.5) and associated soft-tissue component. During subsequent imaging with CT/MRI, 7/9 patients showed concordant lesions which were excised or biopsied and histopathologically verified as phosphaturic mesenchymal tumours. Surgical excision was resorted to in most of the detected lesions, and RFA was performed in one patient. CONCLUSION: There is some overlap in SUVmax between fracture-/bone-associated lesions and culprit lesions with a tendency of most non-culprit lesions to have lower SUVmax and no associated soft-tissue component. In such scenario, intensely tracer-avid, larger non-fracture lesions with soft-tissue component may lead to identification of culprit lesion among multiple lesions. Following detection of culprit lesion, surgical removal is the best treatment. RFA is alternative to surgery in cases where surgery is not possible owing to osteopenia/poor bone health. Advances in knowledge: The main challenge in patients of long-standing OOM is the presence of multiple skeletal lesions (both tumour- or tracer-avid fractures), and it is confusing to identify culprit lesion. This was noted in our study with 68Ga-DOTANOC and has not been mentioned in studies performed with 68Ga-DOTATATE/TOC PET/CT. In such scenario, 68Ga-DOTANOC PET/CT needs to be reviewed and read thoroughly to localize the culprit lesion out of the multiple tracer-avid lesions.

Prevalence of celiac disease in Indian children with type 1 diabetes.

BACKGROUND: Type 1 diabetes (T1D) patients are at an increased risk of having celiac disease (CD). We evaluated the prevalence and clinical profile of CD in children and adolescents with T1D and reviewed the Indian literature to determine prevalence and reasons for variability. METHODS: In this cross-sectional study, subjects with T1D were prospectively evaluated with a demographic and gastrointestinal (GI) questionnaire, human IgA-tissue transglutaminase (IgA-tTGA), and endoscopic duodenal biopsy in serology positive patients. Studies evaluating prevalence of CD in T1D from India were reviewed. RESULTS: Fourteen (13.6 %) of the 103 (52 boys, 13 years [2-20]) T1D patients were IgA-tTGA (182 U [47-300]) positive and 3.8 % (4/103) had villous atrophy on histology. Subjects with T1D and CD (n = 4) were younger at onset of T1D (32.5 ± 12.6 vs. 110.5 ± 53.8 months; p < 0.005) and more often had GI symptoms (pain abdomen [2/4 vs. 6/89; p = 0.01], stool frequency of 2-3/day [3/4 vs. 38/89; p = 0.004]) than screen negative T1D (n = 89). Growth and glycemic control were not different between the groups. In the 7 Indian studies involving 915 children and adults, 13.8 % (8 % to 17.8 %) T1D were serology positive. Prevalence of CD was reported as 6.9 % (2.3 % to 11.1 %), but only 3.1 % (2.3 % to 4.2 %) had villous atrophy on histology. CONCLUSIONS: Potential CD and CD were present in 13.6 % and 3.8 % children with T1D respectively. T1D with CD have onset of diabetes at younger age and were more often symptomatic than screen negative T1D.

Cardiovascular disease risk in first-degree relatives of women with polycystic ovary syndrome.

OBJECTIVE: To assess the risk of cardiovascular disease (CVD) in the parents of polycystic ovary syndrome (PCOS) patients using carotid intima medial thickness (CIMT) and brachial artery flow-mediated dilatation (FMD). DESIGN: Hospital-based case-control study. SETTING: Endocrine clinic of a medical institute in India. PATIENT(S): Case group of 41 fathers and 45 mothers of PCOS patients (confirmed by Rotterdam's criteria) compared with 42 men and 44 women matched by age, sex and body mass index (BMI) as controls. INTERVENTION(S): CVD risk in parents of PCOS patients assessed via CIMT and FMD then correlated with various clinical and metabolic parameters. MAIN OUTCOME MEASURE(S): Differences in CIMT and FMD between parents and controls. RESULT(S): The CIMT was higher [0.6 (0.54-0.8) vs. 0.5 (0.45-0.55) mm] and brachial artery FMD was lower [11.9% (6.9%-16.2%) vs. 16.7% (13.5%-22.6%)] in the parents of PCOS patients as compared with the controls. Systolic blood pressure, diastolic blood pressure, low-density lipoprotein cholesterol, and fasting and 2-hour plasma glucose were higher in the parents of the PCOS patients. The prevalence of CVD risk factors such as systemic hypertension, diabetes mellitus, abdominal obesity, the metabolic syndrome, and a family history of coronary artery disease in first-degree relatives was also higher in the parents of PCOS patients. The prevalence of diabetes was higher in the fathers of PCOS women, but other cardiovascular disease risk factors, CIMT, and FMD were comparable among the mothers. CONCLUSION(S): The parents of PCOS patients have an increased CVD risk as evidenced by increased CIMT and low FMD.

Juvenile granulosa cell tumor presenting as isosexual precocious puberty: A case report and review of literature.

The differential diagnosis for precocious puberty in a young female includes peripheral causes. This case report documents a rare cause of isosexual precocious puberty, a juvenile granulosa cell tumor of the ovary-and a brief literature review. A 7-year-old girl presented with rapid onset of pubertal development and elevated estradiol levels. Abdominal ultrasound revealed a mass in the right adnexa. Other causes of precocious puberty were excluded. Elective surgery was planned, but the patient presented to the emergency room with torsion of ovary. She underwent an exploratory laparotomy for tumor resection and right salpingo oophorectomy. Pathology reported a juvenile granulosa cell tumor of the ovary. Postoperatively, she experienced a cessation of vaginal bleeding and estradiol levels normalized. Early stage disease has good prognosis. Adjuvant chemotherapy is not indicated in this setting.

Kocher-Debre-Semelaigne syndrome with arrhythmogenic right ventricular cardiomyopathy: A hitherto unrecognized association.

Kocher-Debre-Semelaigne (KDS) syndrome is a rare form of hypothyroid myopathy, with associated hypertrophy of muscles. Although cardiac manifestations of hypothyroidism are well known, reports of cardiac involvement in KDS have only described the occurrence of pericardial effusion as an association. This report describes an adolescent male presenting with typical features of this rare syndrome along with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), an association not yet described in the literature.