Endocrine Abstracts

JOINT1894

Introduction: Pure gonadal dysgenesis is defined by the complete or nearly complete absence of ovarian tissue in phenotypic females. We report 2 cases of 2 young girls with a 46, XX karyotype associated with gonadal dysgenesis and no other associated organic abnormalities.

Case presentation: Case 2: 16-year-old girl with no significant medical history reffered for investigated of primary amenorrhea and delayed sexual development. Her height and BMI were within normal range, Tanner stage S1P1with external genitalia appearing normal for a child, without any sexual ambiguity or signs of hyperandrogenism. Hormonal tests showed a high follicle-stimulating hormone level (FSH: 52,58 mIU/ml), a low 17β-estradiol level (7 pg/ml) and normal levels of testosterone, prolactin, thyroid-stimulating hormone were reported, and bone age at 15 years. Her karyotype was 46, XX. At imaging (magnetic resonance imaging) the absence of individualisation of the 2 ovaries with major hypoplasia of the uterus measuring 20*8 mm were revealed. she had been commenced on hormone replacement therapy. Case 1: 17-year-old girl, without consanguinity, was admitted for primary amenorrhea with underdeveloped secondary sex characteristics Her height and BMI were normal, tanner stage S1P1, with normal childlike external genitalia, no sexual ambiguity, and no signs of hyperandrogenism. Hormonal testing revealed: FSH at 62 UI/ml, 17β-estradiol at 5 ng/ml, normal prolactin and thyroid-stimulating hormone, bone age were between 13 and 14 years. Pelvic MRI showed a hypoplastic uterus measuring 18.7 × 7.5 mm, with no individualization of the ovaries and no other malformations. A karyotype revealed two normal X chromosomes in all observed mitoses, and AMH < 0.015 ng/ml. The patient was started on 17-beta estradiol treatment.

Discussion/conclusion: 46, XX gonadal dysgenesis without the phenotype of Turner’s syndrome is described as "pure" and it’s an infrequent cause for primary amenorrhoea. Patients are born as phenotypic female. Pure gonadal dysgenesis (PGD) follows an autosomal recessive inheritance pattern, so genetic counseling is recommended. Management is based on hormone replacement therapy (HRT) to induce female pubertal development, promote uterine growth, and maintain bone health. Regarding fertility, the recommended option is the implantation of embryos fertilized with a donated oocyte.