Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country.

Objectives: To review the data of infants and children with suspected monogenic diabetes who underwent genetic testing.

Methods: Monogenic diabetes is a rare form of diabetes resulting from mutations in a single gene. It can be caused by dominant as well as recessive modes of inheritance.

Van Wyk Grumbach Syndrome.

Van Wyk Grumbach syndrome is well known for protracted hypothyroidism, characterised by multicystic ovaries (normal size ovaries contain many follicles of various sizes), isosexual precocious puberty and delayed skeletal growth. A series of ten children with Van Wyk Grumbach syndrome is been presented with their clinical features, biochemical and radiological profile and management. Patients showed a noteworthy improvement upon thyroxine therapy.

Spectrum of Addison's Disease in Children.

Objective: To determine the clinical presentation of Addison's disease in order to increase the awareness of presentation in Pakistani children.

Study Design: Observational study.

Place And Duration Of Study: Department of Diabetes and Endocrinology, National Institute of Child Health, Karachi, Pakistan, from 2015 to 2019.

Comparison of Classical and Non-Classical Turner Syndrome at NICH Karachi.

Objective: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients.

Study Design: Descriptive study.

Place And Duration Of Study: Department of Pediatric Endocrinology and Diabetes Unit-II, National Institute of Child Health, Karachi, from January 2011 to June 2016.

Precocious puberty in children.

Objective: To determine the etiology of precocious puberty in children and to compare the clinical and laboratory parameters of central and peripheral precocious puberty.

Study Design: Cross-sectional study.

Place And Duration Of Study: Endocrine Clinic at National Institute of Child Health, Karachi, from January 2009 to December 2011.