Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report

The process of olfaction, also known as the sense of smell, is a sophisticated chemical response system. The specialized sensory neurons that facilitate this process, known as olfactory receptor neurons, are situated in an upper segment of the nasal cavity, known as the olfactory epithelium. Olfactory sensory neurons are bipolar, with their dendrites extending from the epithelium's apex into the mucus that lines the nasal cavity. Airborne molecules, when inhaled, traverse the olfactory...

Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....

The sense of smell is achieved through the activities of the olfactory system. It starts when an airborne odorant enters the nasal cavity and reaches olfactory epithelium (OE). The OE is protected by a thin layer of mucus, which also serves the purpose of dissolving more complex compounds into simpler chemical odorants. The size of the OE and the density of sensory neurons varies among species; in humans, the OE is only about 9-10 cm2.
The olfactory receptors are embedded in the cilia of the...

Conduct disorder is a complex mental health diagnosis characterized by a repetitive and persistent pattern of behavior that violates societal norms, the rights of others, or age-appropriate rules. The diagnostic criteria for conduct disorder require the presence of at least three problematic behaviors within the past 12 months, with at least one occurring in the past six months. These behaviors are grouped into four categories: aggression toward people and animals; destruction of property;...

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...