Endocrine Abstracts

Background: CHARGE Syndrome is a rare inherited congenital disorder [1]. The name reflects the initials of the clinical findings (Coloboma, Heart disease, Atresia of the choanae, Retarded growth and mental development, Genital anomalies, Ear malformations, and hearing loss). The disease has four major findings expressed as 4C; ocular coloboma, choanal atresia, cranial nerve abnormalities, and characteristic ear anomalies [2].

Objective: Here, a case of CHARGE syndrome, which had no ocular coloboma and choanal atresia findings but had other features and was diagnosed genetically at a late age, was discussed.

Case: The 20-year-old male patient who had no problems during delivery had recurrent pneumonias. He was operated because of vascular ring compression on his esophagus. Inner and outer ear anomalies and mixed hearing loss were present. His neurological development was retarded. Block appearance was detected in the cervical vertebrae. Orchiopexy was performed at 2-3 years because of his undescended testis. Hypogonadotropic hypogonadism was found with micro genitalia. In his family history, there were consanguinity and suspicious deaths in his siblings. In physical examination, his final height was 172 cm. He had a short neck, an atypical facial appearance, prominent auricles, abnormal ears, short philtrum, low nuchal hairline, mild kyphoscoliosis, gynecomastia, and micro genitalia. Pubic and axillary hair growth was insufficient. At the age of 18, a heterozygous mutation in the CHD7 gene (p. Gnl 171Ter) was detected in a genetic examination. Because of delayed puberty and hypogonadotropic hypogonadism, choriogonadotropin alfa was started.

Conclusion: In CHARGE syndrome, neural crest-derived organ anomalies develop due to mutations in the CHD7 gene [1, 3]. Some of the major findings such as coloboma and choanal atresia may not be present in some cases with a genetic mutation [4]. In our case, other features of the syndrome were observed. Genetic consultation should be requested for patients with characteristic CHARGE syndrome features, even if not all major features are present.

References: 1 Zentner, G.E., et al., Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American journal of medical genetics Part A, 2010. 152(3): p. 674-686. 2. Blake, K.D. and C. Prasad, CHARGE syndrome. Orphanet journal of rare diseases, 2006. 1(1): p. 1-8. 3. Pauli, S., R. Bajpai, and A. Borchers. CHARGEd with neural crest defects. in American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. Wiley Online Library. 4. Klingenberg, C. and W.H. Andersen, CHARGE-syndromet1401–5.