Introduction: The female genital developmental defects are not common in non-classical congenital adrenal hyperplasia (CAH). The causes of amenorrhea are multifactorial and are due to the incomplete control of hyperandrogenism as well as the increased progesterone, acting in various modes: blunted LH mid-cycle surge, lack of progestin withdrawal action and antagonise the estradiol action on the endometrium. The overtreatment with glucocorticoid results in the suppression of gonadotropins and iatrogenic Cushing syndrome.
Clinical case: We report a 33-year-old female patient with a history of delayed puberty and two menses in her lifetime. She stated she has secondary amenorrhea non-responsive to progestins and previous treatment with oral contraceptive for two years without menstrual bleeding. The diagnostic of 21 hydroxylase deficiency emerged from her clinical appearance and basal levels of 17-hydroxyprogesterone of 18.44 ng/dl. We obtained control of the disease with a maximum target for 17 OH progesterone level below the double of the upper limit of the reference range with dexamethasone at bedtime. Adding an oral contraceptive the menses doesnt resume, despite ultrasound evidence of an endometrium above 7 mm. We addressed her to extensive gynaecology evaluation. The hysteroscopy describes the bicornuate uterus and an incomplete intrauterine septum conformed by magnetic resonance of the pelvis.
Discussion: Congenital malformations of female genitalia appear in the classical CAH as part of virilisation of the external genitalia and sexual ambiguity. Abnormalities of genital development are not commonly described in non-classical CAH. The literature mentions a phenotype that included malformations of genitalia and CAH, apart of virilisation, due to an association between CAH due to 21 hydroxylase deficiency and Ehlers-Danlos Syndrome the two coding genes for CYP21A2 and tenascin gene (TNXB), respectively located within the HLA complex on Chromosome 6. In this report, we described the occurrence of the bicornuate uterus with an incomplete intrauterine septum in a patient with non-classical CAH, regarded as a middle line malformation because of the failure of fusion of the müllerian ducts.
18 - 21 May 2019
European Society of Endocrinology