The spectrum of manifestations of primary hyperparathyroidism in children and adolescents.

INTRODUCTION: Primary hyperparathyroidism (PHPT) is a rare disease in children and adolescents. Early recognition of this disease is important to prevent significant morbidity and mortality. MATERIAL AND METHODS: We included 10 consecutive patients with PHPT aged 14 to 19 years of age and followed-up prospectively upto one year after parathyroidectomy. RESULTS: Our cohort included 6 females and 4 males. The mean age of the patients was 16.7 ±1.8 years. The symptoms at presentation were musculoskeletal pain (90%), bone deformity (50%), fracture (30%), proximal myopathy (40%), renal stones (50%), reflux symptoms (40%), and pancreatitis (30%). The mean serum calcium was 3.1 ±0.5 mmol/l, mean serum inorganic phosphorus was 0.9 ±0.3 mmol/l and median serum alkaline phosphatase (ALP) was 1911.5 IU/l (IQR: 522.7-5702.3). The median serum intact parathyroid hormone was 133.5 pmol/l (IQR: 69.5 -178.7) while serum 25(OH)D was 47.7 nmol/l (IQR: 23.7-72.7). Hypercalciuria was observed in 7 patients. Hungry bone syndrome was observed in 4 (40%) patients after surgery. Typical parathyroid adenoma was found in 9 (90%) patients while one patient had atypical adenoma with high mitotic index. After one year of surgery, all patients had significant improvement in clinical and biochemical parameters with persistence of residual bone deformities. CONCLUSIONS: Our study showed the spectrum of manifestations of PHPT in children and adolescents and outcomes of parathyroidectomy till one year. Long-term follow-up studies with bigger cohorts are required to understand the true nature of the disease in children and adolescents.

Adrenocortical adenoma manifesting as Cushing's syndrome and pseudo-precocious puberty in a toddler.

Cushing's syndrome is a rare disease in the paediatric age group. Adrenocortical carcinomas (ACC) constitute the most common cause of Cushing's syndrome between 1 and 5 years of age. Often, adrenocortical carcinomas co-secrete other hormones such as androgens (testosterone), deoxy-corticosterone (DOCA), or 17-hydroxy-progesterone [17(OH)P] in addition to cortisol. This may manifest with symptoms and signs of precocious puberty along with Cushing's syndrome. It is rare for a benign adrenocortical adenoma to co-secrete androgens and other hormones in addition to cortisol. Differentiation between adenoma and carcinoma is difficult in all aspects: clinical, radiological, and histopathological. Here, we describe the case of a 2.5-year-old male child who presented with Cushing's syndrome and virilization. Although we suspected ACC clinically, the radiological and histopathological findings were suggestive of benign adrenocortical adenoma. Our case represents the diagnostic challenge that exists in paediatric adrenocortical tumours.

Atypical parathyroid adenoma: Severe manifestations in an adolescent girl.

INTRODUCTION: Primary hyperparathyroidism (PHPT) is a disease that is usually diagnosed in an asymptomatic state during routine biochemical screening. It generally manifests as a sporadic disease in post-menopausal women. However, in India and developing countries, we continue to see severe skeletal and renal manifestations of the disease. CASE REPORT: Herein, we describe the case of a 16-year-old adolescent girl who presented with severe manifestations of primary hyperparathyroidism. Biochemically, she had severe parathyroid hormone (PTH)-dependent hypercalcaemia with hypophosphataemia and vitamin D deficiency (serum total Ca - 18.5 mg/dl [8.5-10.5 mg/dl], serum PO4 - 1.9 mg/dl [2.5-4.5 mg/dl], serum ALP - 2015 IU/l [80-240 IU/l], serum 25[OH]D - 19.1 ng/ml [30-100 ng/ml] and serum iPTH > 5000 pg/ml [15-65 pg/ml]). Pre-operatively, she required management with saline diuresis, bisphosphonate, and calcitonin. After surgery, the patient had severe hungry bone syndrome (serum Ca - 4.1 mg/dl, serum PO4 - 2.1 mg/dl, serum ALP > 10,000 IU/l) that required treatment with calcium infusions for almost 3 months. Although the clinical and biochemical picture was suggestive of parathyroid carcinoma, histopathology revealed atypical parathyroid adenoma with low proliferative index. Atypical parathyroid adenoma is a term applied to a neoplasm with 'worrisome' features but not fulfilling the 'absolute histopathological criteria of malignancy'. CONCLUSIONS: Atypical parathyroid adenoma, a rare cause of PHPT, may be associated with severe manifestations. Although malignancy was not discerned in the immediate post-operative period, we plan to continue long-term follow-up of the patient to look for any signs of recurrence or development of parathyroid carcinoma.

Spontaneous Remission of Acromegaly After Pituitary Apoplexy in a Middle-Aged Male.

Background: Pituitary apoplexy results from hemorrhage, infarction, or hemorrhagic infarction within a pituitary tumor. Subclinical or clinical apoplexy is not uncommon in acromegaly, owing to the large size of the tumor at initial detection. Growth hormone excess in acromegaly often persists following surgery. However, in rare instances, pituitary apoplexy may present a spontaneous cure to growth hormone excess. Case Report: A 40-year-old male presented with holocranial headache for the past 16 years that had worsened in severity during the prior year. Two months before presentation, he experienced a severe headache that he described as the worst headache of his life. The patient had prominent acromegaloid features that he ignored, as they seemed to cause no harm. The patient had no signs of clinically active disease. Magnetic resonance imaging of the brain revealed a pituitary macroadenoma with evidence of hemorrhage. Serum insulin-like growth factor 1 and oral glucose-suppressed serum growth hormone levels were normal, suggestive of inactive or silent disease. Pituitary apoplexy causing spontaneous remission of acromegaly was diagnosed, and close follow-up was planned for the evolution of hypopituitarism. Conclusion: This case highlights a rare presentation of acromegaly in which an episode of symptomatic pituitary apoplexy revealed the diagnosis of pituitary adenoma and led to the cure of growth hormone hypersecretion.

Endocrine causes of heart failure: A clinical primer for cardiologists.

Heart failure (HF) may be a presenting manifestation of a few endocrine disorders and should be considered in evaluation of heart failure causes. This clinically oriented review is an attempt to highlight the protean manifestations of heart failure in endocrine diseases which could present either as acute or chronic heart failure. Acute heart failure manifests as hypertensive crisis, Takotsubo syndrome, or as tachy/brady cardiomyopathies. Chronic heart failure could masquerade with features of hyperdynamic heart failure, or hypertrophic, restrictive or dilated cardiomyopathy. Rarely constrictive features or resistant heart failure could be the presenting feature. Isolated presentation as pulmonary hypertension and right heart failure are also documented. Good history-taking and physical examination with targeted investigations will help in the timely management for reversing the pathophysiology to a significant extent by appropriated management.

Renal Tubular Acidosis Manifesting as Severe Metabolic Bone Disease.

Renal tubular acidosis (RTA) is a condition characterized by normal anion gap metabolic acidosis. Type 1 and type 2 RTA are the most common, and are caused by defective secretion of hydrogen ions and impaired absorption of bicarbonate, respectively. Long-standing uncorrected acidosis can lead to metabolic bone disease (MBD). Rickets and osteomalacia remain the commonest manifestations of uncorrected RTA. In addition, there can be a myriad of other skeletal manifestations like fractures, pseudofractures, secondary osteoporosis and even sclerotic bone disease. The postulated mechanism for bone involvement includes acidosis-mediated exaggerated osteoclastic bone resorption. Other contributory factors include abnormal renal handling of phosphate leading to hypophosphataemia in proximal RTA, and impaired vitamin D metabolism and action. In distal RTA, hypercalciuria and secondary hyperparathyroidism may play a key role for bone involvement. Recognizing the disease in its early course is important to prevent permanent sequelae of skeletal involvement. Most of these patients may, in fact, undergo orthopaedic interventions without primary correction of acidosis. We describe five cases who presented with MBD in varied forms. While evaluating the aetiology of MBD, they were diagnosed with RTA. Subsequently, we attempted to analyse the causes of RTA. Although the common causes were ruled out, genetic aetiology could not be ascertained due to resource constraints. RTA remains an important differential diagnosis of MBD. More awareness is required to diagnose the disease early and to treat it adequately. Our case series is an attempt to provide the clinical, biochemical and skeletal spectrum of RTA. In addition, we have attempted to provide algorithms for the approach and evaluation of RTA along with their varied causes.

46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma.

Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.

Performance of High School Students in a Laparoscopic Training Program.

BACKGROUND AND OBJECTIVES: We hypothesized that high school students can be subjected to the same laparoscopic surgical training curriculum used by surgeons and successfully complete it. The goal of this study was to evaluate the appropriateness of early training in minimally invasive surgical techniques. METHODS: Thirteen high school students, ages 15-18, participated in the validated Top Gun Surgeon Laparoscopic Skills and Suturing program. The students performed 3 preparatory drills 10 times each. The students' scores were then compared to a database of 393 surgeons. Performance graphs were prepared to allow comparison of skills acquisition between the 2 training groups. RESULTS: All 13 students successfully completed the tasks. The Students' performance (expressed as time/percentile range/average percentile) for each task were as follows: rope pass 101.8 seconds/3.8-47.1/11.8; bean drop 149.5 seconds/18.7-96.0/59.4; triangle transfer 303.2 seconds/1.3-16.0/5.8. The students started each drill with slower times, but their average improvement (decreased time to complete tasks) was more rapid than that of the surgeons between the first and second trials for each drill (-83 seconds vs -25 seconds, -120 seconds vs -53 seconds, -100 seconds vs -60 seconds). Average student times compared to average surgeon times during the last trials measured were not significantly different in the triangle transfer and rope pass drills (P = .40 and .18, respectively). Students' times were significantly faster than surgeons' in the last measured trial of the bean drop (P = .039). CONCLUSIONS: Despite the small sample size, this investigation suggests that high school students can successfully complete skill-building programs in minimally invasive surgery. Further study is needed to evaluate the appropriateness of starting surgical training of future residents at an earlier stage of their careers.