Aspectos clínicos do pseudohipoparatireoidismo com diagnóstico tardio relato de caso

Abstract

Introduction: Pseudohypoparathyroidism (PHP) is a rare, heterogeneous condition with metabolic and genetic disorders characterized by resistance of target organs to the action of PTH. The most common cause is a mutation in the GNAS gene, responsible for the expression of GSA, leading to the cell's inability to produce cAMP from the activation of adenylate cyclase. PHP is typically classified as type 1 or 2, and type 1 is subdivided into 1a, 1b, and 1c. Of all PHP subtypes, type 1a is believed to be the most common. PHP1a's main manifestations are PTH resistance and Albright's hereditary osteodystrophy (AHO). OHA is characterized by skin calcifications, obesity, short stature, bradydactylism, mental retardation, dental abnormalities, a rounded face, and a short neck. In addition to PTH resistance, other hormonal imbalances such as hypothyroidism and hypogonadism may also be present. Objective: To report the case of a patient diagnosed with pseudohypoparathyroidism only in adulthood. Case presentation: A.J.D., 41 years old, male, with epilepsy since childhood, referred to endocrinology for hypocalcemia and calcifications in the basal ganglia on cranial computed tomography (CT) scan. Patient with intellectual disability. In the systematic interview, he reports constant muscle weakness, sporadic cramps, and asthenia. He also reports delayed tooth eruption, as well as premature tooth loss, requiring a prosthesis in early adulthood. He also has a diagnosis of cataracts. On general physical examination, he presents syndromic facies with macroglossia, thick lips, increased anteroposterior diameter of the skull, dental prosthesis, alopecia, mammary hypertelorism, brachydactyly, kyphoscoliosis, and cutaneous calcinosis. Laboratory tests showed severe hypocalcemia (serum calcium 5.95 mg/dL, ionized calcium 4.37 mg/dL), elevated PTH (181 pg/mL), phosphorus within normal limits (3.8 mg/dL), elevated alkaline phosphatase (877 U/L). TSH was also elevated (8.36). No abnormalities were found in vitamin D (39 ng/mL) and magnesium (2.3 mg/dL), and renal function was normal. Ultrasound of the kidneys showed bilateral micronephrolithiasis. Genetic testing is pending. Final considerations: PHP is a complex endocrine disease, with great clinical variability among affected individuals, which contributes to late diagnosis. Early diagnosis results in less morbidity for the patient, improving quality of life