Endocrine Abstracts

Background: In 1985, Mikati et al., described a new syndrome, which included microcephaly, hypergonadotropic hypogonadism, short stature, mental retardation and minor anomalies in four out of nine siblings of consanguineous parents. No genetic disorder was associated to the disease. No further references to this syndrome have been found in literature. The authors present a new possible case of Mikati-Naijjar and Sahli syndrome (MNJS).

Clinical case: Forty-two-year-old female referred to the Endocrinology Department due to secondary amenorrhea for 6 years. History of menarche at eighteen with regular menstrual cycles. No access to prenatal and neonatal history. Personal history of primary hypothyroidism medicated with levothyroxine 50 μg. She was able to help in some household duties, but lacked capabilities for satisfactory results at school. Parents are 1st degree relatives. Two healthy brothers and one other with microcephaly, not further investigated. Physical examination Microcephaly (46 cm), weight 50 kg, height 129 cm. Also, narrow forehead, synophrys and micrognathia. Tanner V. Unremarkable neurological exam. No relevant findings in biochemical study besides hypergonadotropic hypogonadism. She had normal prolactin, dehydroepiandrosterone sulphate, delta-4-androstenedione, sex hormone-binding globulin and total testosterone. Normal uterus and ovary ultrasound. Karyotype 46, XX.

Discussion: The patient presented with multiple congenital abnormalities, which do not occur in any known syndrome to our knowledge, besides MNJS. However, our patient presented with secondary amenorrhea unlike the female patient in MNJS kindred with primary amenorrhea and Tanner II. Like the genetic defect was not studied in MNJS it will be challenging to ascertain if it is the same syndrome.