December 2025 in “Archives of Current Research International” Congenital goitre in goats near Hyderabad is linked to iodine deficiency and can be treated effectively with medication.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
A woman with a rare hair loss condition developed skin cancer in the bald area.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
April 2025 in “Pediatric Dermatology” Scalp biopsies are essential for diagnosing congenital alopecia areata.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
July 2024 in “Dermatology Practical & Conceptual” LC-OCT helps accurately diagnose different types of infant hair loss without invasive methods.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.