Delayed diagnosis in Vitamin D-dependent rickets type II results in severe skeletal deformities.

Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. We aimed to investigate two cases of VDDR-II. Case 1 was of a 14-year old male, presenting with bone pains, bowing of legs, multiple bone deformities, and fractures since childhood. On examination, Chvostek's and Trousseau's signs were positive, and there was no alopecia. Case 2 was a 15-year old male who presented with pain in both legs since childhood and difficulty in walking lately. Upon investigation, it was found that bowing of legs, and Chvostek's and Trousseau's signs were positive. Both cases had severe hypocalcaemia, normal/low phosphate levels, and high alkaline phosphatase (ALP). Vitamin D levels were normal, and 1,25(OH) Vitamin D was very high, thus confirming the diagnosis of VDDR II. Both of the cases highlight a tremendous delay in diagnosis, resulting in severe adverse skeletal outcomes.

Endoscopic Trans-Sphenoidal surgery; Efficacy and response in Pituitary Adenoma.

OBJECTIVES: The purpose of the study was to access the efficacy and response of the endoscopic transsphenoidal surgery in pituitary adenomas. METHODS: It was descriptive case study, conducted at Neurosurgery Department in collaboration with the Endocrine Unit (Medical Unit-II) Of Jinnah Post Graduate Medical Center Karachi from January 2015 to July 2017. Patients with sellar, supra sellar and para sellar tumors were enrolled in the study. Patients with prolactinoma and recurrent pituitary tumors were excluded. Data was analyzed using SPPS 17. RESULTS: Sixty three patients were included in the study with mean age of 42±8.34 years. There were 40(63.5%) male patients and 23(36.5%) female patients with pituitary adenoma. Headache and visual impairment were the main presentation 55(87.3%) and 56 (88.8%) respectively. Out of all these patients the pituitary adenomas, 51(81%) patients had non secretory and 12 (19%) patients had secretory tumor. Out of these pituitary adenomas 53(84.1%) were macroadenomas and 10(15.9%) were microadenoma. Post operatively marked improvement in the headache was in all 100% patients and vision improved in 54 (96.4%). The most common post operative complication was cerebrospinal fluid (CSF) leak in 10 (15.9%) with 44 (69.8%) having no post complications at all. Mortality was reported to be just 1.6% i-e one patient. CONCLUSION: The endoscopic transsphenoidal approach for pituitary adenoma is the safest procedure with marked improvement in complications and reduction in patient's hospital stay.

Subclinical Hypothyroidism: Frequency, clinical presentations and treatment indications.

OBJECTIVE: To determine the frequency, modes of clinical presentation and indications for replacement therapy in a cohort of patients with subclinical hypothyroidism (SCH). METHODS: This study was conducted at the Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre from September 2007 - October 2015. This was a retrospective chart analysis of prospectively collected data in whichthe medical records of 4448 patients who had presented to the Endocrine Clinic from 2007 to 2015 were reviewed. A total of 2760 (62.05%) patients were diagnosed withthyroid disorders, whereas 260 (9.42%) patients had SCH. The SCH patients were between the age of 12 to 70 years; TSH was> 4mIU/l with normal levels of FT3 and FT4. Patients were enrolled using a predesigned structured proforma. Those having chronic systemic diseases were excluded from this study. SPSS 13 was used to evaluate the data. RESULTS: Femalepatients comprised93.8% (244 patients) of those with SCH, whereas only 6.2% (16 patients) were male. Common presenting symptoms were, lethargy in 146 patients (56.2%); increase in weight in 102 patients (39.2%) and menstrual irregularities in 90 patients (34.6%). TSH level of < 10mIU/l (4 - 10) was seen in 177 patients (68.1%) and 83 patients (31.9%) had TSH ≥ 10mU/l. Thyroxine was given to 183 (70.4%) of these patients. Common treatment indications were TSH of ≥ 10, which was seen in 83 patients (31.9%), subfertility in 32 patients (12.3%), troublesome symptoms suggestive of hypothyroidism in 31 patients (11.9%) and high titers of antibodies in 23 patients (8.8%). CONCLUSION: SCH is frequently seen in our population, with most patients complaining of lethargy. The most common treatment indications were a TSH ≥ 10mIU/l, whereas troublesome symptoms of hypothyroidism and subfertility were the common treatment indications in patients who had a TSH of < 10mIU/l.

The many guises of primary hyperparathyroidism: An unchanged scenario.

OBJECTIVE: To study the causes, characteristics and outcome of treatment of patients with primary hyperparathyroidism. METHODS: This retrospective cohort analysis was conducted at the Jinnah Postgraduate Medical Centre, Karachi, and comprised data of patients with primary hyperparathyroidism between 2004 and 2014. .SPSS 17 was used for data analysis. RESULTS: Of the 25 patients,1(4%)was male and 24(96%) were female. The overall mean age was 41.72±15.9 years, with a mean duration of symptoms of 4.1±3.3 years. The mean pre-operative parathyroid hormone level was 879.48±793.51 pg/ml. Skeletal manifestations were reported in 17(68%) patients, whereas 4(16%) patients had renal stone disease. Besides, 2(8.0%) patients presented with severe abdominal pain, 1(4%) had asymptomatic hypercalcaemia and 1(4%) patient presented with headache and was diagnosed as parathyroid adenoma in the context of multiple endocrine neoplasia type 2A. All patients underwent parathyroidectomy. A solitary adenoma was reported in 23(92%) patients, carcinoma in 1(4%) and an adenoma with hyperplasia of other glands in 1(4%) patient. CONCLUSIONS: A high index of suspicion is required for early diagnosis of primary hyperparathyroidism.

Ankylosing Spondylitis: A rheumatology clinic experience.

OBJECTIVE: To determine the frequency, demographics, laboratory and radiological features in patients with Ankylosing Spondylitis. METHODS: This is a retrospective analysis of prospectively collected data of patients with a diagnosis of Ankylosing Spondylitis (AS), based on Modified New York criteria. The study was conducted at the Rheumatology Clinic of Jinnah Postgraduate Medical Centre (JPMC), from February 2004 to February 2014. Detailed history, examination and laboratory investigations were recorded in a pre-designed structured proforma. The frequency, demographic characteristics, extra-articular features and associated co-morbidities were studied. RESULTS: A total of 603 patients were registered in our Rheumatology Clinic during this period, with a definitive diagnosis of inflammatory rheumatological disorders. Out of these, Ankylosing Spondylitis (AS) was diagnosed in 32 (5.3%) patients. 24 were male and 8 patients were female. The commonest affected age group was between 21-40 years. Majority of the patients belonged to Pathan ethnicity. CONCLUSION: The demographic features of AS are same as reported in earlier studies from other parts of the world. The predominance of AS in specific ethnic groups is a fact that needs to be studied. Larger studies are required for clarifying the triggers of this disease. It often leads to severe disability, hence an early diagnosis and prompt treatment is required for better disease control and quality of life.

Burden of rheumatological disorders in a tertiary care hospital.

OBJECTIVE: T To evaluate the frequency of different rheumatological disorders in patients visiting a tertiary care centre. METHODS: The retrospective analysis was conducted at the Rheumatology Clinic of Jinnah Postgraduate Medical Centre, Karachi, and comprised prospectively collected data of patients with different musculoskeletal disorders from February 2004 to February 2014. Detailed history, examination and laboratory investigations were recorded in a pre-designed structured proforma. The frequency, demographic characteristics and associated co-morbidities were studied. SPSS 17 was used for statistical analysis. RESULTS: Of the 603 patients whose data was analysed, 460(76.3%) were women and 143(23.7%) were men. Overall mean age of the patients was 35.2±12 years. Rheumatoid arthritis was diagnosed in 458(76%) patients, systemic lupus erythematosus in 42(7%) ankylosing spondylitis in 32(5.3%), mixed connective tissue disease in 22(3.6%) and scleroderma in 12(2%) patients. CONCLUSIONS: Rheumatological disorders constitute a major disease burden in a relatively young population of patients. RA was the most common disorder seen in our clinic, as seen elsewhere also, followed by SLE, AS, MCTD, etc.

Clinical Spectrum of Disorders of Sexual Differentiation.

OBJECTIVE: To describe the mode of presentation and causes of the disorders of sexual differentiation in patients presenting in the Endocrine Clinic. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: The Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from July 2012 to July 2014. METHODOLOGY: Patients with phenotypic, psychosocial gender confusion or absence of gender appropriate secondary sexual maturation were enrolled in the study. Patients having chronic systemic disease, as cause of delayed puberty, were excluded from the study. SPSS 13 was used to evaluate the data. RESULTS: A total of 48 patients registered in the study with mean age of 19.9 ±8 years. Female gender was assigned to 28 (58.3%) of which 8 (28.57%) had genital ambiguity. Male gender was assigned to 20 (41.66%) patients at the time of birth and 7 (35%) of them had ambiguous genitalia. Karyotyping could be done in 36 (75%) patients of which 17 (47.2%) were females and 19 (52.7%) were males. Karyotypic gender of the 19 (48.57%) male patients was 46 XX, 46 XY and 47 XXY; in 4 (21.05%), 5 (26.3%) and 10 (52.6%) patients, respectively with 9 Klinfelter syndrome. Karyotypic gender of 17 (47.42%) female patients were 46 XX, 46 XY and 45 X0; in 5 (29.4%), 3 (17.64%) and 9 (52.9%) patients, respectively. CONCLUSION: Disorder of sexual development constitutes a small but difficult area of endocrinology with disastrous consequences, especially if assigned wrong sex at birth. Mode of presentation of these cases was diverse ranging from delayed puberty, to gender confusion, to pregnancy in a male. Eventually in an adult patient assignment or reassignment of gender identity was primarily the patient's prerogative.

Clinical spectrum and various forms of thyrotoxcosis in endocrine clinic of Jinnah Postgraduate Medical Centre.

OBJECTIVE: To evaluate clinical symptoms, signs and various forms of thyrotoxicosis, and to assess the thyroid function status at the first 6-week follow-up. METHODS: The retrospective chart review involved thyrotoxic patients presenting at the Endocrine Clinic of Jinnah Postgraduate Medical Centre, Karachi, between April 2007 and January 2011. All hyperthyroid patients were included with the exception of those with suspected or proven malignancy. The records were maintained on a structured proforma and analysed statistically to work out frequencies and percentages. RESULTS: A total of 507 patients were included. Most common form of thyrotoxicosis was Graves' disease, with diffuse toxic goiter affecting 269 (53%) patients; followed by toxic multinodular goiter in 102 (20.1%); solitary toxic nodule in 56 (11%); thyrotoxicosis without goiter in 44 (8.7%); subclinical hyperthyroidism in 22 (4.3.%); thyroiditis in 9 (1.8%); and thyrotoxicosis with solitary cold nodule in 4 (0.9%). The common presenting symptoms and signs were goiter (n=415; 85.7%), with eye signs present in 137 (27.7%) patients and heart failure in 20 (4.8%) patients. Of the 321 patients who attended the first six-week follow-up, 309 (94.4%) had their FT4 levels checked. Out of them, 130(42.1%) had euthyroid levels; 113 (36.6%) had lower but still toxic level; 36 (11.7%) had no change; and 30 (9.7%) became hypothyroid. TSH levels at first follow-up remained suppressed in 211 (73%) patients; normal in 47 (16.3%); and increased in 31 (10.7%). CONCLUSIONS: Graves' disease was found to be the most common cause of hyperthyroidism. At first follow-up 10.4% of patients had become hypothyroid. Therefore the starting dose of antithyroid drugs was reduced in the clinic. Thyroid stimulating hormone assay was of little help in adjusting treatment at the 6-week follow-up, as almost all cases of hypothyroidism could have been picked up on FT4 assay alone.

Virilization with adrenal myelolipoma, adrenal hyperplasia, and fibroadenoma of breast.

Adrenal myelolipoma is a rare, benign and usually hormonally inactive tumour. We report a case of a young female who presented with hormonally active tumour causing virilization and associated type-2 Diabetes mellitus. Laparoscopic adrenalectomy was done after CT finding of a large left adrenal mass that was producing large amounts of androgens. Adrenal myelolipoma with cortical hyperplasia was diagnosed on histopathological examination. Her diabetes progressively regressed after the removal of tumour and glucose tolerance remained normal up to 1 year of follow-up after surgery and there was no recurrence of tumour. She also had a lump in her breast which proved to be a fibroadenoma. We report this case due to its rarity, multiplicity of tumours and adrenal cortical hyperplasia-presenting as an unusual cause of severe virilization.