OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE.

Objective: Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India.

The performance and reproducibility of late-night salivary cortisol estimation by enzyme immunoassay for screening Cushing disease.

Objective: Our study aimed to establish a local reference range for late-night salivary cortisol (LNSC) using enzyme immunoassay (EIA) and to study the intra-individual reproducibility of LNSC.

Methods: Prospective study involving 30 healthy subjects (HS) with body mass index (BMI) <25 kg/m2, 37 obese/overweight subjects (OS) with BMI >25 kg/m2 and 28 patients with Cushing disease (CD). Salivary sampling was performed on 2 consecutive nights and assayed by EIA.

Clinical, biochemical and imaging characteristics of Cushing's macroadenomas and their long-term treatment outcome.

Objective: Cushing's macroadenoma as a cause of Cushing's disease is less common than microadenoma. The data on nature and behaviour of Cushing's macroadenoma are limited to a few case series. We studied clinical, biochemical and imaging characteristics of macroadenoma and their long-term treatment outcomes.

Pheochromocytoma and tetralogy of Fallot: a rare but potentially dangerous combination.

Objective: To describe a case of pheochromocytoma (PHEO) with tetralogy of Fallot (TOF) and discuss the difficulties encountered during the management of this patient, with a review of the literature.

Methods: We report the clinical course, imaging, and management issues of our patient and review relevant literature.

Results: A 14-year-old female who was known to have TOF presented with classical paroxysmal symptoms and worsening dyspnea.

Primary (autoimmune) hypophysitis: a single centre experience.

Background: Autoimmune hypophysitis (AH) is a rare autoimmune inflammatory disorder of pituitary gland.

Objective: To analyse clinical, hormonal, radiological features and management outcomes of AH.

Design: Retrospective analysis of patients with primary hypophysitis (where secondary causes of hypophysitis were ruled out) was carried out from 2006 to 2012.

Ectopic ACTH-secreting syndrome: a single-center experience.

Objective: Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare cause of ACTH-dependent endogenous hypercortisolism. The objective of this study was to analyze clinical, biochemical, and imaging characteristics; management strategies; and outcomes of EAS patients.

Method: We screened the records (1993-2012) of ACTH-dependent endogenous hypercortisolism cases managed at a tertiary care center.

Are Indian parents of children with Down syndrome engaged in the blame game?

Objectives: To study blame ascription among parents of children with Down syndrome and to study its correlation with sociodemographic factors, parental perception of dysmorphisms and parents' knowledge about Down syndrome. This is a prospective, observational, non-interventional case control study.

Methods: Interview of biological parents of children with Down syndrome less than 12 y of age was taken.

Volume interpolated 3D-spoiled gradient echo sequence is better than dynamic contrast spin echo sequence for MRI detection of corticotropin secreting pituitary microadenomas.

Background: Various techniques have been attempted to increase the yield of magnetic resonance imaging (MRI) for localization of pituitary microadenomas in corticotropin (ACTH)-dependent Cushing's syndrome (CS).

Objective: To compare the performance of dynamic contrast spin echo (DC-SE) and volume interpolated 3D-spoiled gradient echo (VI-SGE) MR sequences in the diagnostic evaluation of ACTH-dependent CS.

Design: Data was analysed retrospectively from a series of ACTH-dependent CS patients treated over 2-year period at a tertiary care referral centre (2009-2011).

Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency.

Certain pituitary imaging abnormalities are a specific indicator of hypopituitarism. The objective of this study is to compare phenotypical features with radiological findings in patients with congenital growth hormone deficiency (GHD). Magnetic Resonance imaging (MRI) was performed in 103 patients [72 with Isolated GHD (IGHD) and 31 with Combined Pituitary Hormone Deficiency (CPHD)].