Kallmann Syndrome (KS)
Artist: ent
Artwork Description:
The fading hues of adolescence symbolize the loss of hormonal awakening caused by deficient GnRH secretion. Olfactory motifs express the characteristic absence or reduction of smell.


Disease Introduction:
Kallmann Syndrome (KS)
Type: Genetic / Endocrine disorder
Affected Systems: Hypothalamic–pituitary–gonadal axis and olfactory system

Symptoms:
Delayed or absent puberty accompanied by reduced or absent sense of smell. In males, this often presents as small testes, lack of facial or body hair, voice remaining high-pitched, erectile dysfunction, and infertility. In females, primary amenorrhea and lack of breast development are common. Additional features can include cleft palate, hearing impairment, mirror movements (synkinesis), nystagmus, renal malformations, and color vision defects. Bone density loss due to long-term low sex hormone levels may lead to osteoporosis.

Cause / Risk Factors:
Kallmann syndrome results from mutations in genes such as KAL1 (ANOS1), FGFR1, PROKR2, PROK2, or CHD7 that regulate the migration of GnRH neurons and olfactory bulb formation. Inheritance may be X-linked, autosomal dominant, or autosomal recessive depending on the gene involved. The hormonal deficiency leads to impaired sexual maturation and reproductive function, while the same developmental defect explains the loss of smell.

Treatments:
Hormone replacement therapy induces and maintains secondary sexual characteristics Testosterone is used for males, and estrogen followed by progesterone for females.
For fertility, gonadotropin injections with human chorionic gonadotropin (hCG) and FSH, or pulsatile GnRH therapy, can stimulate sperm or egg production.
Bone health should be monitored with calcium and vitamin D supplementation if necessary.
Supportive treatments may address associated anomalies such as cleft palate repair, hearing correction, or renal abnormalities.