Rx Endocrinology, Enzymes and Hormonal Diseases (A – Z)
Hormones and enzymes are distinct biological substances with different functions: hormones are chemical messengers released by endocrine glands to regulate various bodily processes by traveling through the bloodstream, while enzymes are protein catalysts produced by glands to speed up specific chemical reactions, often working at their site of production or within a duct system. The term “endocrine enzymes” is a misnomer; enzymes are catalysts, and hormones are chemical messengers, although some endocrine glands, like the pancreas, also produce exocrine enzymes for digestion in addition to endocrine hormones like insulin and glucagon.
Bangstad syndrome is a very rare inherited disorder. It affects growth, movement, hormones, and several body systems from birth. Babies are usually small before birth and remain small after birth. ...
Ataxia–diabetes–goiter–gonadal insufficiency syndrome—better known as Bangstad syndrome—is an extremely rare, inherited disorder first described in 1989. It combines problems with movement and ...
Hypothyroidism and cleft palate syndrome is a rare genetic condition in which a baby is born with an under-active or missing thyroid gland (congenital hypothyroidism) and a cleft in the roof of the ...
This condition is a genetic syndrome. Babies are born without a thyroid gland or with a very tiny thyroid (so they have congenital hypothyroidism). They also have a cleft palate (a split or opening ...
Familial infantile hypercalcemia (FIH) is a rare, inherited problem where a baby or young child has too much calcium in the blood (hypercalcemia) even though the parathyroid hormone (PTH) level is ...
Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition that starts at birth or soon after. The pancreas makes too much insulin even when blood sugar is low. Insulin ...
ABCC8-related congenital hyperinsulinism is a genetic condition where the pancreas makes too much insulin even when blood sugar is low. The extra insulin pushes sugar from the blood into body cells ...
Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic condition in which the pancreas makes too much insulin even when blood sugar is already low. “Autosomal recessive” means a ...
Autosomal-recessive hyperinsulinemic hypoglycemia from Kir6.2 (KCNJ11) deficiency is a rare genetic disorder where the beta-cells of the pancreas release too much insulin even when blood sugar is ...
KCNJ11-related congenital hyperinsulinism is a rare condition where a baby’s pancreas releases too much insulin. Insulin lowers blood sugar. When insulin is released in excess, a baby’s blood sugar ...
Pseudohypoaldosteronism (PHA) is a group of rare conditions where the body makes aldosterone normally (often in high amounts) but kidney or other tissues do not respond to it. Because the signal is ...
IGHD-II is a rare, inherited form of growth hormone (GH) deficiency. “Autosomal dominant” means a child can have the condition if they inherit a single changed copy of the responsible gene from ...
Autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency (IGHD type II) is a genetic condition where the pituitary gland does not make enough growth hormone (GH) even though ...
Autosomal dominant isolated somatotropin deficiency—often called isolated growth hormone deficiency type II (IGHD-II)—is a genetic condition where the pituitary gland makes too little growth hormone ...
Autosomal dominant hyperinsulinism from KCNJ11 (Kir6.2) loss-of-function means the potassium channels (called KATP channels) on the beta cells in the pancreas do not open normally. When these ...
Autoimmune Addison’s disease happens when your immune system mistakenly attacks the outer layer of your adrenal glands. The damaged glands can’t make enough cortisol (the stress and energy hormone) ...
