Minifascicular neuropathy (MN) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with MN with 46XY gonadal dysgenesis (GD) was found to carry a mutation affecting the start codon in desert hedgehog (DHH). We identified an identical novel rearrangement mutation of DHH in two consanguineous families with MN, confirmin...

Methodology This study was conducted in National Institute of Child Health at Department of Pediatrics, Division of Endocrinology from January 2008 to December 2010. A Total of 127 Patient under age of 14 years with ambiguity, micropenis, hypospadias, cryptorchism and delayed puberty were selected and studied.USG Pelvis, HCG Stimulation test and Chromosomal analysis were carried out in all pati...

Genital ambiguity, is defined as a group of congenital conditions in which development chromosomal, gonadal, or anatomic sex atypical. It constitutes major social emergency and the decision making relation to assignment has been perceived an extremely disturbing difficult both families health care professionals. can also be medical it may lead life-threatening adrenal crisis. Each patient shoul...

OBJECTIVE To study the clinical profile and the management of patients with disorders of sex development (DSD). DESIGN AND SETTING Retrospective study from a tertiary care hospital of North India. METHODS AND PATIENTS One hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were in...

BACKGROUND Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Tha...

Disorders of sex development (DSD), previously referred to as intersex disorders, comprise a variety of congenital diseases with anomalies of the sex chromosome, the gonads, the reproductive ducts and the genitalia. DSD is loosely classified into four groups on the basis of histological features of the gonadal tissue: XX-DSD with two ovaries (female pseudohermaphroditism), XY-DSD with two testi...

Modern deep neural networks have a large number of parameters, making them very hard to train. We propose DSD, a dense-sparse-dense training flow, for regularizing deep neural networks and achieving better optimization performance. In the first D (Dense) step, we train a dense network to learn connection weights and importance. In the S (Sparse) step, we regularize the network by pruning the un...

OBJECTIVE The knowledge about health status in adults with disorder of sex development (DSD) is scarce. DESIGN AND METHODS A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) with DSD. Mean age was 32.4 ± 13.6 year (range 16-75). The cohort was divided into: Turner (n = 301), Klinefelter (n = 224), XY-DSD (n = 2...

DSD-1-PG is a chondroitin sulfate proteoglycan (CSPG) expressed by glial cells that can promote neurite outgrowth from rat embryonic mesencephalic (E14) and hippocampal (E18) neurons, an activity that is associated with the CS glycosaminoglycans (GAGs). Further characterization of DSD-1-PG has included sequencing of peptides from the core protein and the cloning of the corresponding cDNA using ...