Background: Pendreds syndrome (Pendreds disease) is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism. Cause of Pendreds syndrome is mutations in the SLC26A4 gene. The SLC26A4 gene provides instructions for making a protein called pendrin. The pendrin transports negatively charged ions (chloride, iodide, and bicarbonate) into and out of cells.
Objective and hypotheses: We describe a clinical case of Pendreds syndrome in girl, 16 years old. with breast and ovary cysts.
Method: Total examination (including mammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological USE.
Results: Physical development: height 157 sm, weight 59 kg, BMI 23.9 kg/m2. Sex development: Tanner V. Deafness (congenital bilateral sensorineural hearing loss). Thyroid examination: palpable and visible struma, USE (goiter and colloid cysts). Gynecological examination: dysmenorrhea I, USE (follicular cyst in left ovary). Mammological examination: cyclic mastalgia, breasts symmetry, skin and nipples normal, bilateral palpable lumps in areola areas, USE (bilateral cysts in areola area). Hormonal analysis (follicular phase) ?SH 1.9 mUI/l, Anti-TPO 530 U/l (normal 030), LH 6.6 UI/l, FSH 7.7 UI/l, prolactin 559 mUI/l, cortisol 733 nmol/l. Treatment: hearing-aid, L-thyroxine, cycling Vitamins.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology