Assuntos
Síndrome de Resistência a Andrógenos , Androgênios , Gônadas , Humanos , Masculino , Receptores AndrogênicosRESUMO
Chronic pain in youth with gender dysphoria (GD) is poorly understood. The aim of our study was to review the clinical presentation of 8 youth with GD in a multidisciplinary chronic pain clinic. A single center retrospective chart review was conducted to obtain information on demographics, clinical care, previous diagnoses, and validated clinical measures. We present the trajectory of pain in this population with treatment of GD. Recognition and treatment of GD in youth with pain may improve pain outcomes.
Assuntos
Dor Crônica/etiologia , Disforia de Gênero/complicações , Adolescente , Criança , Feminino , Disforia de Gênero/terapia , Cefaleia/etiologia , Humanos , Masculino , Estudos Retrospectivos , Espondilólise/complicações , Pessoas TransgêneroRESUMO
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis.
