Endocrine Abstracts

JOINT3843

Introduction: Hypogonadotropic hypogonadism (HH) is a condition marked by deficient secretion of gonadotropin-releasing hormone (GnRH), resulting in impaired sexual development and reproductive function. Olfactory dysfunction, including anosmia and hyposmia, frequently accompanies HH due to the shared embryological development of the olfactory system and the hypothalamic-pituitary axis. Recognizing sensory impairments in smell and taste in boys with HH is critical for early diagnosis and treatment planning.

Aim of the Study: To conduct a standardized evaluation of olfactory and gustatory function in a group of boys with HH and to explore associations between clinical symptoms, sensory dysfunctions, and genetic findings.

Materials and Methods: patients aged 8-17 years with confirmed HH were assessed for olfactory and gustatory function using standardized smell identification tests "Sniffin Sticks KIDS Polska," "Screening 6-odor smell test," and taste recognition using "ODOFIN Sniffin Sticks." A control group consisted of individuals without pubertal disorders. Additional assessments included magnetic resonance imaging (MRI) of the hypothalamic-pituitary region and olfactory bulbs, as well as genetic testing for mutations linked to HH.

Results: Olfactory dysfunction was identified in seven out of eight patients, with one exhibiting normal olfactory function. One patient demonstrated complete taste impairment (hypogeusia), while another exhibited partial taste dysfunction with difficulty recognizing sour and salty flavors. Genetic testing for HH-related mutations revealed three cases of Kallmann syndrome (two patients with KAL1 gene mutations and one with a PROK2 mutation). All three had olfactory impairments, and one also exhibited hypogeusia.

Conclusions: Olfactory and gustatory assessments in patients with HH provide valuable diagnostic insights and can help guide genetic testing. These non-invasive tests offer a practical approach to identifying sensory dysfunctions and refining diagnostic strategies.