Klinefelter syndrome, also known as 47,XXY or XXY syndrome, is a genetic disorder that affects males. It results from an extra X chromosome, leading to a chromosomal pattern of 47 chromosomes instead of the typical 46 (45 autosomes and 1 sex chromosome XY). This additional X chromosome can lead to a range of physical, developmental,…
Turner syndrome is a genetic disorder that affects females and is typically characterized by the absence or partial absence of one of the X chromosomes (monosomy X). This condition can lead to a range of physical and developmental features. It is usually diagnosed in childhood, but its severity can vary among individuals. Here are key…
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands, leading to an imbalance of certain hormones, particularly cortisol and aldosterone. These conditions are present from birth (congenital) and are usually caused by mutations in specific genes that are involved in the production of adrenal hormones. The most common form…
Hypothyroidism in children is a medical condition characterized by an underactive thyroid gland, which does not produce enough thyroid hormones to support normal growth and development. Thyroid hormones play a crucial role in regulating various bodily functions, including metabolism, energy production, and the growth and maturation of tissues and organs. When thyroid hormone levels are…
Precocious puberty is a medical condition in which a child’s body starts to undergo the physical and hormonal changes of puberty at an abnormally early age, typically before the age of 8 in girls and before the age of 9 in boys. Precocious puberty is considered abnormal because it occurs well before the usual age…
Growth hormone deficiency (GHD) in children is a medical condition characterized by insufficient production or secretion of growth hormone (GH) by the pituitary gland, which is located at the base of the brain. GH plays a crucial role in a child’s growth and development, so a deficiency can lead to various growth-related issues. Here are…