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.

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.

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.

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. .

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.

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.

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.

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.

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.