ESPE Abstracts

Objective: Treacher Collins syndrome (TCS) is rare autosomal dominant genetic condition characterized by the following features of the head and face: absence of the ears, down-slanting palpebral fissures, eyelid colobomas, microtia, bilateral choanal atresia and etc. Prevalence of TCS is from 1 per 25,000 to 1 in 50,000 live births. Most of TCS patients don’t have endocrine disorders that is why endocrinologists are not familiar with this condition. Anomalies of the reproductive system is very rare associated disorder in these patients (0,4-0,8%). We report a clinical case of Treacher Collins syndrome associated with micropenis and unilateral cryptorchidism in Russian patient for the first time.

Materials: We report the clinical case of a 3-year-old boy who admitted to Endocrinology Research center with the complaints of undescended testicle and small penile size. The boy was born full-term with normal birth weight (2950 g) and length (51 cm). Diagnosis was suspected just after birth due to distinctive facial appearance. At birth the boy had bilateral cryptorchidism but then one testicle has descended. The boy was not examined by endocrinologist during minipuberty. At his first appointment with the endocrinologist the boy had normal growth (93 cm, -1.9 SD) and weight (14.9 kg, -0.7 SD). He had permanent tracheostomy tube and permanent gastrostomy tube. Sonographically, one testicle was in the upper third of the inguinal canal. The corpora cavernosa were 1.5 cm in length so the micropenis was diagnosed. We treated the patient with 3 monthly intramuscular injections of testosterone in order to increase the penile size but with no effect unfortunately. A surgical consult was recommended due to cryptorchidism. Genetic tests revealed heterozygous likely pathogenic de novo variant c.3019_3024delinsCTTGACTCCTGGTGAGCTTGA (p.Ile1007_Pro1008delinsLeuAspSerTrp*) in gene TCOF1 (NM_001135243, OMIM #154500) associated with TCS.

Conclusion: This clinical case demonstrates very rare association TCS with micropenis and cryptorchidism. Moreover, it’s the first clinical report of micropenis associated with unilateral cryptorchidism in Russian TCS patient. Full clinical examination should be performed to detect anomalies of the reproductive system in these patients. Differential diagnosis of TCS includes CHARGE syndrome which may be also associated with choanal atresia, coloboma, ear anomalies and cryptorchidism or/and micropenis. We insist that TCS patients need multidisciplinary team approach, including endocrinologist.