Case: The case is a 19-year-old woman. Her chief complaint is primary amenorrhea. She was born at 40 weeks of gestational age. Birth weight was 2456 g and birth height was 47 cm and she was admitted to the hospital due to abnormality of facial formation, post-nasal cavity closure and respiratory disorders. Her motor development was delayed (standing at 3 years old, walking at 5 years old) and she underwent plastic surgery for 6 times. On admission her height was 151.6 cm (−1.2 SD), her weight was 36.9 kg, and her Body Mass Index (BMI) was 16.1. She had no sense of smell, had left and right facial differences, mild hirsutism, mild valgus elbow and high arched palate. Tanner stage was Breasts 1, Pubic hair 1. LH, FSH and LHRH stimulation tests showed pre-pubertal states. Karyotype was 46,XX. Abdominal ultrasonography showed small uterus but no ovaries. There was a renal cyst about 20 mm in the left lower Kidney. The bone mineral density of the lumbar was as low as 0.488 g/cm2 and her bone age was 11 years old. Head MRI showed pituitary gland hypoplasia, and the bone defect of the Turkish saddle. We also found hypoplasia of hard palate and nasal septum. Olfactory testing showed no sense of smell. Genetic testing showed missense mutation of c.1979 G> A, p.Arg 660 Gln (chr 3: 57131752 C> T) heterozygous in exon 12, IL17RD. The same mutation was found in her father.
Discussion: The gene mutation in this case is a novel mutation. According to the previous reports IL17RD mutation is a autosomal dominant mutation with low or no sense of smell, partial deafness, tooth abnormality and decreased bone mineral density. Many of the patients first aware the delay of puberty with gonadotropic hypogonadism. In this case, not only the teeth but also the facial dysplasia was recognized, as well as renal cysts and hypoplasia of the pituitary. Since her father showed no symptoms, this could be explained by phenotypic variation and we need to investigate further.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology