IMPE Abstracts

Case presentation: A 17-year-old female patient with non-consanguineous parents. She was born at 39 weeks, with normal weight and height for gestational age, with nasal agenesis and bilateral microphthalmia. She consulted pediatric endocrinology for delayed puberty, with adequate neurodevelopment. Laboratory tests revealed hypogonadotrophic hypogonadism and significant delay in bone age. Table 1. Brain resonance revealed arrhinic choanal atresia, absence of olfactory bulbs, without pituitary hypoplasia, and abdominal MRI with an atrophic uterus without ovaries. Therefore, Bosma syndrome was suspected and SMCHD1 gene sequencing was requested. A pathogenic variant was found: SMCHD1 c. 1043A>G, p.His348Arg, heterozygous, autosomal dominant, pathogenic with missense-like switch. She is in multidisciplinary management for ophthalmology, pediatric endocrinology and genetics. Currently, she is undergoing treatment for pubertal induction by pediatric endocrinology, with estrogen patches, with good response. In the last physical examination with a weight of 37.4 kg (-3.17z), height 166.6 cm (+1.35z), BMI 13.5 kg/m2 (-4.41z), female genitalia, tanner M IV, VP IV.

Discussion: Bosma syndrome is characterized by the association of congenital arhinia, hearing loss, microphthalmia, colobomas, and hypogonadotrophic hypogonadism. In 1981, Bosma described two men with severe hypoplastic non-patent nose, microphthalmia, coloboma, and cataracts, as well as anosmia, hypogeusia, hypogonadotropic hypogonadism, and normal intelligence. The patient of the case presents all the characteristics of the syndrome, she presents an adequate neurodevelopment. There are other reports of patients where they have shown other findings such as abnormal aorta, growth retardation and cryptorchidism in men. Adequate pubertal induction is important, to avoid complications such as osteoporosis reported in some articles.

Conclusions Case reports of Bosma syndrome are rare. They also require multidisciplinary follow-up by genetics, endocrinology, ophthalmology. The use of molecular tests is ideal for an accurate diagnosis. In addition, it is important to remember that in every newborn with midfacial malformation and arhinia, a risk of central hypogonadism should be suspected and it would be indicated to evaluate the gonadal axis during the period of minipuberty. In turn, pubertal induction should be performed at an appropriate age, at the same time as their peers, to avoid physical and psychological complications.