Endocrinology Research

Pediatric endocrinology faculty are involved in both basic and clinical research. The Division of Pediatric Endocrinology works with laboratories in other departments and institutions, providing fellows an opportunity to expand their research interests and learning opportunities.

Dr. Perrin White has studied several genetic diseases of steroid hormone biosynthesis and metabolism, including the most common forms of congenital adrenal hyperplasia. He is currently the lead investigator on an NIH-funded multicenter clinical trial of an androgen biosynthesis inhibitor, abiraterone acetate, to ameliorate problems of androgen excess in prepubertal children with congenital adrenal hyperplasia. He is also the site lead investigator for several multicenter studies of type 1 diabetes. These include TrialNet , for which UT Southwestern is one of 13 members of a consortium to conduct trials of disease-modifying treatments in type 1 diabetes; a trial of a “bionic pancreas” advanced insulin pump; and a sponsored study of teplizumab, a humanized anti-CD3 monoclonal antibody, to prolong the honeymoon in children with newly diagnosed type 1 diabetes.

Dr. Soumya Adhikari aspires to leverage the electronic medical record to yield data driven process changes and to better understand clinical outcomes. He maintains a robust database of clinical outcomes for more than 2,500 children with diabetes and his work contributed to the development of a risk model for hospital admission with diabetic ketoacidosis which can apply an automated risk score to individual patients based on data discreetly available in the electronic record. He is also developing protocols and processes to introduce continuous glucose monitoring to the care of inpatients with diabetes.

Dr. Nivedita Patni’s academic and clinical interests are pediatric endocrine and lipid disorders; including genetic dyslipidemias like type 1 hyperlipoproteinemia (T1HLP) and rare lipodystrophy and progeria syndromes. She has studied the prevalence, clinical features and various etiologies of extreme hypertriglyceridemia in children, and is working on determining the genetic bases of lipid disorders in children, and the genotype-phenotype relationships in these patients. Patients with T1HLP are a challenge to treat. She recently completed a pilot randomized, open label, cross over clinical trial of the gastric and pancreatic lipase inhibitor, orlistat, in these patients, obtaining promising results. She has described a novel syndrome of generalized lipodystrophy associated with pilocytic astrocytoma and a novel finding of juvenile-onset generalized lipodystrophy in two patients with a new mutation in the lamin A (LMNA) gene. She has also studied and published detailed clinical and metabolic parameters of children with familial partial lipodystrophy (FPLD-2) caused by LMNA mutations and continues her research work at the Center for Human Nutrition at UT Southwestern Medical Center to understand the natural history and physiology of rare lipodystrophy syndromes. Her other recent work has included description of a novel autosomal recessive familial generalized lipodystrophy syndrome due to a homozygous LMNA variant, collaborative work identifying a novel generalized lipodystrophy-associated progeroid syndrome (GLPS) due to a different specific mutation in LMNA, and autosomal recessive Wiedemann-Rautenstrauch syndrome (WRS) or neonatal progeroid syndrome due to a novel locus involving the POL3RA gene, which encodes a subunit of the RNA polymerase III enzyme.