Endocrine Abstracts

JOINT285

Background: Kabuki syndrome is a rare condition characterized by a spectrum of features, including distinctive facial dysmorphia, skeletal abnormalities, dermatoglyphic patterns, and intellectual disability. Endocrine disorders, such as hypothyroidism or growth hormone deficiency, may also be present within this spectrum.

Case Report: We present the case of a 28-year-old woman from a non-consanguineous marriage, with a normal psychomotor development, who has been monitored for hypothyroidism since the age of 11, alongside bilateral renal lithiasis. The patient was admitted to our department for the management of profound hypothyroidism, with a TSH level of 80 µU/mL, following discontinuation of her hormone replacement therapy. Clinical examination revealed short stature (1.40 m), a weight of 52 kg, long palpebral fissures with eversion of the lateral lower third of the eyelids, prominent arched eyebrows with notched outer thirds, a short columella, and a flattened nasal tip. The patient also exhibited brachydactyly. Hormonal tests revealed a hypogonadotropic hypogonadism profile with FSH=3 IU/l, LH=0.3 IU/l, and estradiol=5 ng/l. Cardiac ultrasound showed non-obstructive hypertrophic cardiomyopathy. Given this clinical presentation, Kabuki syndrome was suspected. Genetic testing is currently underway to investigate mutations in the KMT2D or KDM6A genes.

Conclusion: The diagnosis of Kabuki syndrome remains primarily clinical, though it is marked by significant clinical and biological heterogeneity. Most reported cases of Kabuki syndrome are sporadic. Despite its variability, the prognosis is generally favorable, with many individuals leading relatively normal lives.