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Abstract Background Parathyroid carcinoma is an uncommon cause of PTH-dependent hypercalcemia. Only a handful of cases have been reported of parathyroid carcinoma during pregnancy. Case presentation Twenty-four – Year – old female presented with proximal myopathy was found to have hypercalcemia. Her serum corrected total calcium was – 15 mg/dl (8.5 – 10.3), serum phosphate – 2.3 mg/dl (2.5 – 4.5), intact PTH – 118 pg/ml (20 – 80), Vitamin D – 15 ng/ml and Urine Ca/Cr ratio – 2.1 (0.1 – 0.2). Her CECT–neck revealed a well-defined mass lesion posterior to the right lobe of the thyroid – 2.6 cm × 2.5 cm × 2.9 cm in size. She was started on vitamin D supplementation, and she underwent right lower focal parathyroidectomy. Her PTH levels normalized following surgery. Her histology revealed an atypical parathyroid adenoma. She was treated with calcium and vitamin D. Her follow up was uneventful. One year following initial surgery the patient became pregnant and at 16 weeks of POA, the patient presented with a rapidly enhancing neck mass for one week duration. Her biochemical investigations were suggestive of a recurrence of primary hyperparathyroidism. Her ultrasound scan of the neck revealed a well-defined discreate hypoechoic nodule, superior to the thyroid isthmus which was confirmed by a non-contrast MRI scan of the neck. She underwent an uncomplicated second trimester parathyroid tumour excision with normalization of post op PTH. Her histology revealed a parathyroid carcinoma with vascular and capsular invasion. Her genetic studies revealed a novel frameshift mutation of the CDC73 gene. She was treated with calcium and vitamin D supplementation and closely followed up with ionized calcium and PTH levels which were normal throughout the pregnancy. She had an uncomplicated caesarean section at a POA of 37 weeks. Currently she is twelve weeks post-partum, in remission of disease. Conclusion This case shows the importance of stringent follow up of atypical parathyroid adenoma patients, the benefit of second trimester surgery in management of hypercalcemia due to parathyroid carcinoma during pregnancy and the importance of identifying the novel CDC73 gene mutation.

Introduction: Cushing disease is a rare entity, and among them, giant pituitary adenomas causing Cushing disease is rarer. Here we present a case of Cushing disease secondary to a giant pituitary macroadenoma.Case report: A 41-year-old female with poorly controlled diabetes mellitus and hypertension diagnosed for six months presented with a history of unintentional weight loss, polyuria and polydipsia for the same duration. There was change in her facial appearance with increased pigmentation, frontal balding and she also noted increase in the size of her abdomen. There were features of proximal muscle weakness. Symptoms of hypothyroidism, hypoadrenalism or hyperprolactinemia were absent, and she was amenorrhoeic following hysterectomy done a year back. Visual impairment, headache, abdominal pain, features suggestive of internal malignancy, especially lung and renal, including features of pheochromocytoma were absent. She denied a family history of similar illness.Her BMI was 20.44 kg/m–2. She had a prominent abdomen, round facies, hirsutism, male pattern hair loss, facial plethora and generalized pigmentation and thinning of skin. She also had hypertension and proximal muscle weakness. Rest of the examination was normal. Investigations revealed hypokalaemia, poorly controlled hyperglycaemia and, non-suppressed overnight dexamethasone suppression test. She had a elevated ACTH level, and a high dose dexamethasone suppression test showed suppression. Pituitary imaging with MRI revealed a 51x 62x 41 mm size sellar and a para sellar mass with heterogeneous echogenicity extending to the right temporal lobe. Further imaging for ectopic ACTH secretion was negative.She underwent transcranial surgery which was unsuccessful due to intraoperative bleeding, and radiotherapy was given postoperatively. Conclusion: Cushing disease due to giant pituitary macroadenomas are rare and may require secondary therapeutic measures in controlling the disease in case of failed surgery.

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Background. Postmenopausal hirsutism could be due to a myriad of causes, including ovarian and adrenal tumours, ovarian hyperthecosis, exogenous androgens, and Cushing’s syndrome. We report a patient who was found to have a rare cause of postmenopausal hirsutism. Case Presentation. A 64-year-old postmenopausal woman with a history of hypertension, thyrotoxicosis, and poorly controlled diabetes on multiple oral hypoglycaemic agents presented with gradual onset progressive excessive hair growth without any virilizing features. On examination, she did not have Cushingnoid features or clitoromegaly. Her hirsutism was quantified with Ferriman–Gallwey score which was 9. Her biochemical evaluation showed elevated testosterone levels with normal DHEAS, ODST, 17-OHP, and prolactin. Low-dose dexamethasone suppression test did not suppress testosterone more than 40%. Contrast-enhanced CT of the adrenal and pelvis did not show any adrenal or ovarian mass lesions. Transvaginal ultrasound scan showed bilateral prominent ovaries only. Combined adrenal and ovarian venous sampling was carried out to localize the source of excess androgen, but only the left adrenal vein was successfully cannulated which showed suppressed testosterone level compared to periphery. The patient underwent total abdominal hysterectomy and bilateral salphingo oophorectomy, and her testosterone level normalized postoperatively. Her glycaemic control improved. Histology showed evidence of bilateral diffuse ovarian Leydig cell hyperplasia. Conclusion. Evaluation of postmenopausal hirsutism needs careful history and examination followed by biochemical evaluation and imaging. While adrenal and ovarian venous sampling can help to arrive at a diagnosis, it is a technically demanding procedure with low success rates even at centers of excellence. Therefore, in such situations, bilateral oophorectomy may be the best course of action which will give the histological confirmation of the diagnosis. Successful treatment of hyperandrogenism can result in improvement of glycaemic control. Bilateral diffuse Leydig cell hyperplasia is a rare but important cause of postmenopausal hirsutism.

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Background. Polycystic ovary syndrome (PCOS) is a common endocrine disorder with heterogeneous etiology. Typical features consist of oligo/anovulation, polycystic ovaries, and features of hyperandrogenism. Pathogenesis is multifactorial, and positive family history may have a predisposition for disease development. The syndrome is associated with multiple metabolic and nonmetabolic entities. As the disease is involved with multiple adverse outcomes, the successful treatment is pivotal. Among the more advanced options, the unilateral oophorectomy is considered as a last resort to alleviate the symptoms. Case Presentation. A 29-year-old female presented to us with oligomenorrhea, severe hirsutism, androgenic pattern hair loss, acne, increased skin pigmentation, and secondary subfertility. On examination, she was obese with a body mass index (BMI) of 29.6 kg/m2. She had evidence of acanthosis nigricans, androgenic pattern balding, acne, dorsal, supraclavicular fat deposition, and moderate-severe hirsutism. Investigations confirmed excess right ovarian testosterone secretion which led to the ultimate management with right oophorectomy with successful alleviation of clinical features. Conclusions. The multifaceted medical treatment comprises the first-line therapy in PCOS. Surgery is considered as a second-line option in resistant PCOS following failure of initial therapeutic options. We report a case of resistant polycystic ovary syndrome with secondary subfertility and moderate-to-severe hirsutism who was successfully treated with unilateral oophorectomy with favorable results.

Background: Patients with acromegaly are reported to have a higher prevalence of colorectal adenoma, which is a pre-malignant condition. It has been recommended that patients with acromegaly should undergo colonoscopic surveillance to detect these lesions early. Aims and Objectives: Our objective was to evaluate the prevalence of colonic polyps in patients with acromegaly. Materials: This was a descriptive cross-sectional study conducted in the Endocrinology and Pituitary clinics at National Hospital of Sri Lanka between January 2012 and June 2013. From a total of 72 patients with acromegaly, 33 patients (13 males and 20 females), who underwent colonoscopy were enrolled for analysis. Age group of this sample was 29 to 71 years. None of these patients had previous or family history of colonic neoplasm or colonic surgery. Results: The mean age of the patients at diagnosis was 40.12 (SD±11.9) years and average lag time between symptomatology and diagnosis of acromegaly in these patients were 3.5 (SD ± 2.8) years. The basal mean plasma Growth hormone was 57.91 mU/L (SD±53.74) and on imaging 28 (84.84%) had tumour of grade II or above. Colonoscopic examination was complete up to the cecum in 23 patients (69.69%), to the splenic flexure in eight patients (24.24%) and to hepatic flexure in the remaining two patients (6.06%). Five patients (15%) with acromegaly had polyps in their colonoscopy in which two of them had tubular adenoma with low grade dysplasia. The group of acromegalic patients with and without polyps did not differ significantly in age 39.8±13.3 years vs 39.71 ±11.34 years, (p= 0.326), in duration of disease 2.8 ±2.0 years vs 3.6±3.0 years, (p=0.544) or in circulating basal GH levels (77.13 ±64.91mU/L vs 42.61±42.70 mU/L, p= 0.134). Diabetes did not influence the prevalence of colonic polyps in acromegaly (Chi-Squared test; p=0.478). Having polyps was statistically significantly higher among male sex than female sex (p Conclusion: Despite lower prevalence of colonic polyps (15%) compared to studies from the west, we still found premalignant lesions in 2 patients (6.06%). Therefore, we suggest that acromegalic patients should undergo screening colonoscopy.

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Multiple endocrine neoplasia (MEN) type 1 syndrome is an autosomal dominant disorder caused by germline mutations in MEN1 gene, characterized by tumours in endocrine and nonendocrine organs. Giant prolactinoma is defined as tumours larger than 40mm with very high prolactin secretion. We report two unrelated Sri Lankan patients (8-year-old boy and a 20-year-old female) who presented with giant prolactinomas with mass effects of the tumours. The female patient showed complete response to medical therapy, while the boy developed recurrent resistant prolactinoma needing surgery and radiotherapy. During follow-up, both developed pancreatic neuroendocrine tumours. Genetic analysis revealed that one was heterozygous for a nonsense mutation and other for missense mutation in MEN1 gene. Screening confirmed familial MEN-1 syndrome in their families. High clinical suspicion upon unusual clinical presentation prompted genetic evaluation in these patients and detection of MEN1 gene mutation. Pituitary adenomas in children with MEN-1 syndrome are larger tumours with higher rates of treatment resistance. This report emphasizes importance of screening young patients with giant prolactinoma for MEN-1 syndrome and arranging long-term follow-up for them expecting variable treatment outcomes. Sri Lanka requires further studies to describe the genotypic-phenotypic variability of MEN-1 syndrome in this population.

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Introduction: Pituitary surgery, radiotherapy and medical therapy with dopamine agonists (DA), somatostatin analogues (SA) and growth hormone receptor agonists (GHRA) are the main treatment modalities that are recommended for treating acromegaly. Most of these treatment modalities are too expensive or not available in most of the resource settings like ours. The objectives of this study were to describe the demographic factors, presentation and comorbidities in acromegaly patients and to analyze the outcome of the treatment modalities used in our clinical setting, which include remission, recurrence and mortality among patients with acromegaly. Materials and methods: This was a descriptive cross sectional study conducted among 72 acromegaly patients attending endocrinology and pituitary clinics at national hospital of Sri Lanka between January 2012 and June 2013. Pituitary adenomas were classified based on Hardy’s classification. A remission criteria of nadir growth hormone level Results: 54.1% of the patients were females. The mean age of the patients at the time of presentation was 39.52 (SD± 12.8) years and the mean duration of symptoms on presentation was 3.28 years (SD±2.7). The commonest presentations were the changes in facial appearances and the increase in shoes and ring sizes (88%). 81.8% had tumour grade II and above. 14.2% had prolactin co-secretion with GH. 86.1% underwent transsphe noidal surgery (TSS). 37.5% of patients with grade I tumour and 33.3% of patients with grade II tumour achieved remission following TSS. None of the patients with tumour grade III or above achieved remission following (TSS). In our series, overall remission was 22.5%. External beam radiotherapy (EBRT) was effective in 20% in achieving remission. Medical therapy (either cabergoline or bromocriptine) as bridging /primary therapy achieved remission in only 20.8%. Irrespective of the mode of treatment, no recurrence was noted in the patients who achieved remission. The mortality in this case series was 2.7%. Conclusions: Although the grade III and IV tumours has limited success, TSS remains the treatment of choice in acromegaly. EBRT and medical therapy with dopamine agonist have limited efficacy. Most of the other recommended options are very costly or unavailable in Sri Lanka. This study further highlights the importance of establishing specialist pituitary surgery services and introducing modern medical therapy to improve patient outcome.

Introduction: Use of growth hormone therapy (GHT) in adolescents is not common in Sri Lanka. In this study we aimed to assess the response to GHT in adolescents in our setting presenting with short stature.Materials and methods: This was an observational study carried out at the University Medical Clinic, National Hospital of Sri Lanka. GHT was used for those with growth hormone deficiency (n=15), Turner syndrome (n=5) and Prader Willi syndrome (n=1). All were monitored with anthropometric measurements, IGF-1 and observed for side effects.Results: Among the 21 adolescents, 15 were males (71.4%). Mean age, height, weight at presentation were 15.0 (10.4-19.1) years, 138.6 (± 7.6) cm and 38.4 (±13.0) kg respectively. Low IGF-1 was found in 16 (76.1%). IGF1 was normal in Turner patients. Impaired response for ITT was seen in 13 (81.3%; n=16). In one patient it was discontinued due to lack of patient cooperation. Follow up period and mean growth velocity were 2.7 – 35.6 months and 7.1 (+3.7) cm/year respectively. In the group with isolated GHD (n=13) significant negative correlation between initial bone age and growth velocity was found but that of initial chronological age and height was not significant. Girls with Turner syndrome showed a mean height velocity of 5.9cm/year with therapy. Side effects were detected in 3 (14.9%) patients which were diabetes mellitus (n=2) and carpal tunnel syndrome (n=1).Conclusion: Growth hormone replacement therapy is useful in achieving satisfactory height gain in adolescents with short stature due to GHD, Turner syndrome and Prader Willi syndrome and is usually a safe treatment.DOI: http://dx.doi.org/10.4038/sjdem.v4i1.7255Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2014; 4: 49-55

Precocious puberty is a rare condition characterized by the development of secondary sexual characteristics before the median age for the sex. We report a 5 year and 7 month old girl who presented to us with precocious puberty who had a large anterior pituitary for the age.DOI: http://dx.doi.org/10.4038/sjdem.v4i1.7251Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2014; 4: 35-39

The hemoglobin A1C (HbA1C) assay has become the gold-standard measurement of chronic glycaemia for over two decades. It provides an average blood glucose level during the preceding 10 - 12 weeks. Its close association with risk for long-term complications, established in epidemiologic studies and clinical trials, has resulted in clinicians using HbA1C test results to guide their treatment decisions, and thus the assay has become the cornerstone of clinical practice. This brief review describes some important facts about HbA1C and its relevance and usefulness in clinical practice. DOI: http://dx.doi.org/10.4038/sjdem.v3i2.6379 Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2013; 3: 104-107

DOI: http://dx.doi.org/10.4038/sjdem.v3i2.6382 Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2013; 3: 114-122

Many factors can compromise results of thyroid function tests, leading to possible misinterpretation and misdiagnosis. Presence of antibodies in the human serum can react with the immunoglobulins included in the assay components and cause anomalous results. We describe below three cases where spurious hormone results were obtained due to interfering antibodies.Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2015; 5: 20-22

DOI: http://dx.doi.org/10.4038/sjdem.v3i1.5505 Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2013; 3: 45-37

Primary hyperparathyroidism (PHPT) is characterized by the autonomous production of parathyroid hormone (PTH), in which there is hypercalcemia or normal-high serum calcium levels, in the presence of elevated or inappropriately normal serum PTH concentrations. Diagnosis of PHPT is biochemical. Advances in imaging technology, intraoperative parathyroid hormone measurement, and surgical technique now allow parathyroidectomy to be performed using a focused approach without the absolute need of a fourgland exploration. This brief review summarizes the various diagnostic modalities available for successful preoperative localization and management of the modern day PHPT patient. Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2012; 2: 101-105 DOI: http://dx.doi.org/10.4038/sjdem.v2i2.4780

Rapid onset of virilization in a post-menopausal woman is usually the result of androgen secretion from a tumour of adrenal or ovarian origin. Androgen secreting neoplasms of the ovary are rare and usually show autonomous secretion. We describe the case of a 61-year-old woman with high serum testosterone and inappropriate normal estrogen despite menopause. Localization of the tumour was not possible by conventional ultrasound or computerized tomography scanning, and was achieved by venous sampling. Complete cure was achieved by oophorectomy. Histopathological examination confirmed the diagnosis. Postoperatively her testosterone returned to normal. Two months after surgery she showed regression of features of hyperandrogenism.DOI: http://dx.doi.org/10.4038/sjdem.v1i1.4189 Sri Lanka Journal of Diabetes Endocrinology and Metabolism 2011; 1: 37-40

A 27-year-old woman who remained undiagnosed regarding the source of hypercortisolism for four years was referred for further investigations. Initial laboratory results confirmed endogenous hypercortisolism, (elevated 9 a.m cortisol and non suppressible low dose dexa-methasone suppression test) suggesting Cushing’s syndrome. High dose dexamethasone suppression test did not suppress and serum adrenocorticotropic hormone (ACTH) level was elevated. MRI pituitary and CT abdomen, pelvis and chest also did not reveal any clue regarding the source of ACTH. Therefore venous sampling of Inferior-petrosalsinus and mediastinal vessels was arranged. In the unstimulated inferior- petrosal- sinus- sampling (IPSS), there was a central-to-peripheral ACTH gradient, of 2.6 times (higher in centre) and right to left gradient of 2.1 times (higher on right) were noted suggesting the right pituitary as source of excess ACTH. Repeat MRI pituitary revealed a 0.5cm x 0.3cm poorly enhanced area in the right lobe of suggesting a microadenoma. She underwent Trans Sphenoidal Surgery (TSS) and the histology appearances were compatible with a pituitary adenoma. Thisi case illustrates the feasibility of venous sampling in localizing the source of ACTH secretion where imagings were inconclusive.DOI: http://dx.doi.org/10.4038/sjdem.v1i1.4190 Sri Lanka Journal of Diabetes Endocrinology and Metabolism 2011; 1: 41-44

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DOI: http://dx.doi.org/10.4038/sjdem.v1i1.4184Sri Lanka Journal of Diabetes Endocrinology and Metabolism 2011; 1: 22-24

Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2012; 2: S1-S20 DOI: http://dx.doi.org/10.4038/sjdem.v2i2.4786

DOI: http://dx.doi.org/10.4038/sjdem.v1i1.4207 Sri Lanka Journal of Diabetes Endocrinology and Metabolism 2011; 1: 54