Primary Insulin-Like Growth Factor-1 Deficiency

Primary Insulin-Like Growth Factor-1 Deficiency (PIGFD), also known as Laron syndrome or growth hormone insensitivity syndrome, is a rare congenital disorder characterized by the body’s inability to produce or respond to insulin-like growth factor-1 (IGF-1), despite normal or elevated levels of growth hormone (GH). IGF-1 plays a pivotal role in childhood growth and development, and

Primary Immune Deficiency Disorder

Primary Immune Deficiency Disorder (PIDD) refers to a group of over 400 rare, chronic disorders in which part of the body’s immune system is either missing or functions improperly. These conditions are inherited genetic defects that compromise the immune system’s ability to defend against infections, malignancies, and autoimmune diseases. Individuals with PIDD are more susceptible

rimary Hypogonadism Due to Orchitis

Primary hypogonadism is defined as testicular failure that results in inadequate production of testosterone and impaired spermatogenesis. When the etiology is orchitis—an inflammatory condition of the testes—testicular tissue may be permanently damaged, leading to irreversible endocrine and reproductive dysfunction. The condition necessitates early recognition, targeted treatment, and long-term hormonal management to maintain quality of life

Primary Hypogonadism Due to Bilateral Torsion of Testes

Primary hypogonadism is a clinical condition characterized by impaired testicular function resulting in reduced testosterone production and/or impaired spermatogenesis. When this condition arises as a consequence of bilateral torsion of the testes, it becomes a urological and endocrinological emergency with long-term reproductive and hormonal implications. In primary hypogonadism due to bilateral testicular torsion, the underlying

Primary Hyperoxaluria Type I (PH1)

Primary Hyperoxaluria Type I (PH1) is a rare autosomal recessive genetic disorder characterized by the overproduction of oxalate, a metabolic end product that the body cannot degrade. The excess oxalate combines with calcium to form calcium oxalate crystals, leading to nephrolithiasis, nephrocalcinosis, and ultimately end-stage kidney disease (ESKD) if left untreated. PH1 results from a

Primary Genital Syphilis

Primary genital syphilis represents the first stage of syphilis infection, caused by the spirochete bacterium Treponema pallidum. Characterized by the appearance of a painless genital ulcer known as a chancre, this sexually transmitted infection (STI) marks the onset of a systemic disease that can progress through several distinct clinical stages if left untreated. Early diagnosis

Primary Focal Hyperhidrosis of Axilla

Primary focal hyperhidrosis of the axilla is a chronic condition characterized by excessive underarm sweating that occurs without identifiable medical cause. Unlike secondary hyperhidrosis, which is triggered by systemic conditions or medications, primary axillary hyperhidrosis typically begins in adolescence and persists throughout adulthood. The condition affects both genders equally and has a substantial impact on

Primary Dysbetalipoproteinemia

Primary dysbetalipoproteinemia, also known as type III hyperlipoproteinemia, is a rare genetic lipid metabolism disorder characterized by the improper clearance of remnant lipoproteins from the bloodstream. This leads to elevated plasma cholesterol and triglyceride levels, increasing the risk of premature atherosclerosis and cardiovascular diseases. The condition is closely associated with mutations in the apolipoprotein E

Primary Cutaneous Anaplastic Large Cell Lymphoma

Primary Cutaneous Anaplastic Large Cell Lymphoma (PC-ALCL) is a distinct subtype of CD30-positive T-cell lymphoproliferative disorders, predominantly manifesting in the skin without systemic involvement at the time of diagnosis. It is imperative to differentiate PC-ALCL from other forms of cutaneous or systemic lymphomas due to differences in clinical behavior, treatment, and prognosis. Pathophysiology and Molecular

Primary Biliary Cholangitis

Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is a chronic autoimmune liver disease that primarily affects the bile ducts within the liver. Over time, the condition leads to the progressive destruction of these ducts, impairing the liver’s ability to secrete bile. This impairment can result in the accumulation of bile salts, leading