Pediatric Endocrinologist
https://www.magicfoundation.org/ The MAGIC Foundation is a nonprofit, national organization created to provide support and educational services for the families of children who have a wide variety of chronic and/or clinical disorders, syndromes and diseases that affect growth. http://hgfound.org/ The Human Growth Foundation (HGF) is a national, nonprofit organization dedicated to helping individuals with growth-related disorders […]
http://www.saizenus.com/ Saizen® is used for growth hormone therapy to replace the hormone that the body fails to produce on its own. It works to stimulate skeletal growth, increase the number and size of skeletal muscle cells, influence the size and function of internal organs, and has important effects on metabolism. http://www.zomacton.com/ ZOMACTON™ [somatropin (rDNA origin)] for […]
Introduction Vitamin D is labeled as the “sunshine vitamin,” as it is produced in the skin on sun exposure. Vitamin D is required to maintain serum calcium concentration within the normal physiologic range for musculoskeletal health. The Endocrine Society, National and International Osteoporosis Foundation, and American Geriatric Society define vitamin D deficiency as the level […]
Introduction Turner syndrome (TS), also known as congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China. Timely diagnosis is crucial, and non-invasive prenatal DNA testing can identify […]
Introduction Small for gestational age (SGA) is a term used to describe babies who are smaller than usual for the number of weeks of pregnancy. These babies have birth weight below the 10th percentile. This means they are smaller than many other babies of the same gestational age. Many babies normally weigh more than 5 […]
Introduction Delayed puberty is defined clinically by the absence or incomplete development of secondary sexual characteristics bounded by an age at which 95 percent of children of that sex and culture have initiated sexual maturation. However, there are wide ranges within and across populations as to the order and temporal sequences that occur during puberty, […]
Introduction Precocious puberty refers to the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal. For many years, puberty was considered precocious in girls younger than 8 years; however, recent studies indicate that signs of early puberty (breasts and pubic hair) are often present in girls (particularly black […]
Introduction Women with polycystic ovarian syndrome (PCOS) have abnormalities in the metabolism of androgens and estrogen and in the control of androgen production. PCOS can result from abnormal function of the hypothalamic-pituitary-ovarian (HPO) axis. A woman is diagnosed with polycystic ovaries (as opposed to PCOS) if she has 20 or more follicles in at least […]
Introduction Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. The clinical phenotype of KS was first described in males with tall stature, small testes, gynecomastia, and azoospermia with the genetic etiology of supernumerary X chromosomes identified in 1959. Extra X chromosomes lead to testicular hyalinization, fibrosis and testicular hypofunction which may result […]
Summary Hypopituitarism is a dysfunction of the pituitary gland, during which it fails to produce a sufficient amount of one or more hormones. The pituitary gland is part of the endocrine system and is responsible for producing hormones. The pituitary gland is small bean sized gland, located at the base of the brain. It regulates […]
Introduction Hashimoto’s disease or Hashimoto’s thyroiditis or chronic lymphocytic thyroiditis is an autoimmune disease where the body’s own antibodies attack the cells of the thyroid. Hashimoto’s thyroiditis was first described by Hashimoto Hakaru in 1912. He named it struma lymphomatosa which was renamed as Hashimoto’s thyroiditis in 1931. Hashimoto’s thyroiditis can be classified as primary […]
Introduction Gynecomastia is a benign enlargement of the male breast (usually bilateral but sometimes unilateral) resulting from a proliferation of the glandular component of the breast. It is defined clinically by the presence of a rubbery or firm mass extending concentrically from the nipples. Gynecomastia can develop in males of any age or weight, but […]
Introduction Growth hormone deficiency (GHD) is a medical condition due to not enough growth hormone (GH). Generally, the most noticeable symptom is a short height. In newborns there may be low blood sugar or a small penis. In adults there may be decreased muscle mass, high cholesterol levels, or poor bone density. There are three […]
Introduction Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female genitalia. Later in life, […]
Introduction Adrenal insufficiency is caused by failure of the adrenal glands to produce sufficient (or any) amounts of cortisol and aldosterone. Prolonged lack of cortisol leads to severe fatigue, chronic exhaustion, depression, loss of appetite and weight loss. Lack of aldosterone leads to a drop in blood pressure, particularly when standing up quickly, and to […]
Summary Congenital Adrenal Hyperplasia (CAH) is a term combining several rare, genetic autosomal recessive disorders that are inherited by children when both of the parents are carriers of a mutated gene. The carriers of the mutated gene typically do not show any symptoms of the disorder. CAH affects the genes that are responsible for enzyme […]
Introduction Hyperthyroidism is a set of disorders that involve excess synthesis and secretion of thyroid hormones by the thyroid gland, which leads to the hypermetabolic condition of thyrotoxicosis. Hyperthyroidism can accelerate body’s metabolism, causing unintentional weight loss and a rapid or irregular heartbeat. Several treatments are available for hyperthyroidism. Anti-thyroid medications and radioactive iodine may […]
Introduction Idiopathic short stature (ISS) refers to extreme short stature that does not have a diagnostic explanation (idiopathic designates a condition that is unexplained or not understood) after an ordinary growth evaluation. The term has been in use since at least 1975 without a precise percentile or statistical definition of “extreme”. Associated Anatomy After GH […]
The objective is to examine the metabolic alterations secondary to growth hormone therapy (GHT) in growth hormone deficient and non-growth hormone deficient children.
The objective of this study is to evaluate the efficacy and acceptance of the DiAs closed loop artificial pancreas system. NIH UC4DK108483-01
– Diabetes Registry Study designed to learn more about the medical care of people with type 1 diabetes
The objective of this study is to evaluate an artificial pancreas system with no exercise or meal announcements using the DiAs platform. (Mount Sinai is an additional site to an existing cohort of 3 NIH funded sites studying this system)