IMPE Abstracts

Introduction: Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of secondary sexual characteristics or at age 13 years if no menses have occurred and there is absence of secondary sexual characteristics Around 14 percent of cases correspond to a physiological delay of puberty and it must be considered a diagnostic of exclusion.

Case report: A 15-year-old girl was referred for primary amenorrhea evaluation. She had previous diagnoses of Pringle-Bourneville Syndrome (brain hamartomas, cardiac rhabdomyomas, face angiofibromas, and epilepsy), idiopathic juvenile arthritis, systemic arterial hypertension, renal angiomyolipomas and hypothyroidism; she was under treatment with prednisone, methotrexate, among other drugs. Her maternal age at menarche was 12 years. She presented spontaneous thelarche and pubarche; she did not report alimentary problems, headaches, hirsutism, acne, galactorrhea, or visual alterations. Physical examination: Height 161cm (Zscore = -0.3), weight 40kg, BMI 15.4kg/m2 (Zscore = -2.5). Multiple facial fibroangiomas, and round-shaped achromic macules in thorax and upper limbs. Her breast and pubic hair development was at Tanner stage V. Basic laboratory tests and basic hormonal laboratory tests were normal: estradiol 39.1pg/mL. LH 6.1mU/mL, PRL 11.0ng/mL, BHCG negative, TSH 3.126mU/L. Karyotype 46 XX. Abdominal and pelvic ultrasound: multiples angiomyolipomas at the cortex of kidneys (right >8mm, left >4mm), anteverted uterus (57mm x 20mm), homogenous endometrium 5mm thick, right ovary 29mm x 19mm with a cyst of 16mm, left ovary 26mm x 20mm and presence of microcysts.

Discussion: Primary amenorrhea is usually the result of a dysfunction of the hypothalamic-pituitary-gonadal axis or anatomic abnormalities. We report a patient with primary amenorrhea with normal secondary sexual characteristics: normal growth, normal mammary development, normal Müllerian puberal structures, no dysmorphias, no genital structural anomalies, and normal laboratory hormonal values. The patient does not present hyperprolatinemia, hypothyroidism, Müllerian agenesis, androgen insensibility, or polycystic ovary syndrome. After those pathologies were excluded, we concluded this case of primary amenorrea was related to a physiological delay of puberty associated with chronic systemic disease, multiple pharmacologic treatment, stress and low weight. This diagnosis was confirmed as the patient underwent spontaneous menarche during follow up.

Conclusion: Evaluation of primary amenorrhea must be efficient and systematic, focusing on exclusion of many etiologies. If patients present systemic medical complaints, and hormonal and anatomic problems are excluded, a diagnosis of physiological delay of puberty can be established.