Skip to main content

Posts

17 alpha-hydroxylase/17,20-lyase deficiency

17 alpha-hydroxylase/17,20-lyase deficiency Overview 17 alpha-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. It disrupts cortisol and sex steroid synthesis, leading to excess mineralocorticoids. This causes high blood pressure (hypertension), low potassium (hypokalemia), and abnormal sexual development Symptoms 1. High Blood Pressure and Electrolyte Imbalance Because sex hormone and cortisol production is impaired, the body overproduces precursor hormones (like corticosterone) that act as strong mineralocorticoids. Hypertension (High Blood Pressure) : Often develops in childhood or adolescence and is frequently severe. Hypokalemia (Low Potassium): The excess mineralocorticoid activity causes the kidneys to excrete too much potassium, leading to symptoms like muscle weakness or fatigue. 2. Genetic Males (46,XY) Because androgens are required for the development of male sex organs, a deficiency in these hormone...
Post a Comment
Read more
Recent posts

X-linked Adrenal Hypoplasia Congenita (X-AHC)

  X-linked Adrenal Hypoplasia Congenita (X-AHC) Overview       X-linked Adrenal Hypoplasia Congenita (X-AHC) is a rare genetic disorder caused by mutations or deletions in the NR0B1 gene (which encodes the DAX-1 protein). It primarily affects males and is characterized by underdevelopment of the adrenal glands (leading to adrenal insufficiency) and delayed puberty (hypogonadotropic hypogonadism). Symptoms 1. Infancy and Early Childhood (Adrenal Insufficiency) In the first few weeks of life, infants typically experience life-threatening salt-wasting and hormonal imbalances. Symptoms include: Severe dehydration and failure to thrive Persistent vomiting, diarrhea, and poor feeding Extremely low blood sugar (hypoglycemia)Low blood pressure and shock Darkened skin (hyperpigmentation) in certain areas, particularly on gums, nipples, and creases Electrolyte imbalances (low sodium, high potassium), which can cause heart rhythm issues 2. Adolescence and Adulthood (Hyp...
Post a Comment
Read more

Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis Overview              Adolescent idiopathic scoliosis (AIS) is a structural, side-to-side curvature of the spine exceeding 10 degrees, developing in children aged 10 to 18 without a known cause. It primarily affects adolescents during their rapid growth spurts and is more common and severe in females. Symptoms Uneven Shoulders: One shoulder is higher than the other or appears to droop. Scapular (Shoulder Blade) Prominence: One shoulder blade may stick out more or appear tilted compared to the other. Rib Hump: A visible prominence on the back or an arch in the rib cage, usually most noticeable when the child bends forward. Hip and Waist Asymmetry: One hip appears higher than the other, or the waistline looks uneven, causing a torso "lean". Uneven Arm Gap: The space between the arms and the torso may differ from side to side. Crooked Head Position : The head may not be perfectly centered with the rest of the body. Fati...
Post a Comment
Read more

Optic Atrophy

Optic Atrophy Overview What is optic atrophy? Optic atrophy is a condition that affects the cells of your optic nerve, which carries impulses from your eye to your brain. “Atrophy” means to waste away or deteriorate. Optic nerve atrophy is another name for optic atrophy, and it’s a serious condition. Atrophy of the optic nerve is a condition that happens because of long-term damage to optic nerve fibers from many different causes. Optic atrophy can cause irreversible issues with vision, including blindness. Symptoms Optic atrophy symptoms relate to changes in vision, including: Blurred vision or a reduction in sharpness of vision. Difficulties with peripheral vision. Difficulties with color vision. Causes Nerve fibers that transmit impulses to your brain make up your optic nerve. In the case of optic atrophy, something is interfering with your optic nerve’s ability to transmit these impulses. Many factors can cause this interference, including: Lack of proper blood flow (vascular/ische...
Post a Comment
Read more

Adenylosuccinate Lyase Deficiency

  Adenylosuccinate Lyase Deficiency Overview Adenylosuccinate lyase deficiency (ADSL deficiency) is a rare inherited metabolic disorder characterized by developmental delay, seizures, learning/intellectual disability and autism related behaviors. Based on the age of onset and the severity of the symptoms it can be classified in three forms: Fatal neonatal form, a very severe form that is present before or at birth Childhood form or severe form (type I) which begins in infancy or early childhood Slowly progressive form or mild form (type II), a milder form that worsens more gradually over time Signs and symptoms across these forms vary greatly from person to person and may include slowing of thought and physical movement (psychomotor impairment), autism related traits such as repetitive behaviors and failure to make eye contact, seizures, progressive loss of muscle tissue (muscle wasting), difficulty eating and drinking due to the psychomotor problems (secondary feeding problems) an...
Post a Comment
Read more

Autosomal dominant epilepsy with auditory features (ADEAF)

Autosomal dominant epilepsy with auditory features (ADEAF) Overview Autosomal dominant epilepsy with auditory features (ADEAF) is a genetic focal epilepsy. It is characterized by seizures that typically start in adolescence or early adulthood, producing sudden auditory hallucinations (e.g., buzzing, ringing, or music) or a temporary inability to understand language (receptive aphasia). Symptoms A detailed look at the symptoms : 1. Auditory Hallucinations & Sensations Before or during a seizure, individuals often experience distinct auditory phenomena, which include: Simple Sounds: Humming, buzzing, or ringing sounds. Complex Sounds: Hearing specific voices, songs, or synthesizer-like noises. Distortions : Sudden changes in the volume or intensity of ambient sounds. Negative Symptoms: A sudden decrease or complete disappearance of surrounding background noise. 2. Receptive Aphasia (Language Difficulties) A hallmark symptom of ADEAF is a sudden, temporary inability to understand sp...
Post a Comment
Read more

Adenine phosphoribosyltransferase (APRT)

Adenine phosphoribosyl transferase (APRT) Overview Adenine phosphoribosyl transferase (APRT) deficiency is a rare, inherited metabolic disorder where the body cannot properly process adenine. This leads to the build-up of insoluble 2,8-dihydroxyadenine (2,8-DHA) crystals, which form kidney stones and can cause severe, progressive kidney damage. Symptoms Symptoms vary widely, and roughly half of all affected individuals remain completely asymptomatic until adulthood. When symptoms do occur, they typically involve the genitourinary system: Reddish-Brown Diaper Stains: Often the very first sign in infants, caused by the excretion of DHA crystals. Nephrolithiasis (Kidney Stones ): Recurrent stones that cause flank pain, abdominal cramps, nausea, and vomiting. Urinary Issues : Blood in the urine (hematuria), pain or difficulty during urination, and frequent urinary tract infections (UTIs). Kidney Damage: Crystalline nephropathy can cause sudden acute kidney injury (AKI) or progressive chr...
Post a Comment
Read more