Rare Causes of Primary Amenorrhea
Author: Tsvetanova, Tsvetelina A.1, Kaleva, Nartsis N.1,2, Grozdanova Liljana I.3, Andonova, Silvija I.4, Linev, Alexandar J.3, Pehlivanov, Blagovest K.5,6, Matev, Magdalen G.5, Dimitrova, Diana G.7
2. Department of Pediatrics and Medical Genetics, Medical University, Plovdiv
3. Medical Genetics Ward, University Hospital “Sv. Georgy”, Plovdiv
4. National Genetic Laboratory, University Hospital of Obstetrics and Gynecology “Maichin Dom”, Sofia
5. Selena – University Hospital Specialized in Obstetrics and Gynecology, Plovdiv
6. Department of Midwifery Care, Faculty of Public Health, Medical University, Plovdiv
7. Imaging Diagnostics Ward, University Hospital “Sv. Georgy”, Plovdiv
Abstract: Primary amenorrhea is defined as absence of menarche by the age of 15 years in the presence of pubertal development. In the absence, however, of pubertal signs, the condition can be diagnosed as early as 13 years of age. Behind primary amenorrhea there are often serious diseases the most common being gonadal dysgenesis in particular Turner syndrome. About 10% of girls with Turner syndrome have a karyotype with Y chromosome which changes their therapeutic behavior. The presence of Y-chromosomal material in standard cytogenetic analysis, combined with intra-abdominal gonads, whether functional or not, increases the risk of gonadal tumors. This risk varies in the different diseases, but gonadectomy is recommended in all of them, at different ages, depending on the endocrine role of gonads during puberty. A common cause of amenorrhea is Constitutional Delay of Growth and Puberty (CDGP). We should also bear in mind that this is a diagnosis of exclusion. Watchful waiting is often at the expense of quality of life later on. The two cases we discuss are rare causes of primary amenorrhea. Both are diagnosed late. While in the first case this is not associated with such a high risk, in the second the delayed diagnosis requires initiation of sex hormone therapy and does not allow for growth hormone therapy which is necessary for taller stature. As a result, the final stature will be extremely short.
Key words: Cushing‚s syndrome; subclinical hypercortisolism; adrenal incidentalomas
