Kallmann syndrome is a condition that’s characterized by absent or delayed puberty and a lack or loss of sense of smell. Kallmann syndrome may be accompanied by other symptoms, including hearing loss and cleft palate. The condition is typically treated with hormone replacement therapy.
Causes of Kallmann Syndrome
Both Kallmann syndrome and nIHH are genetic conditions caused by gene mutations.
There are several different gene mutations, and most (but not all) have been linked to an inheritance pattern.
For example, some forms of the condition are inherited from either the mother or the father, while others are inherited by both parents.
Symptoms of Kallmann Syndrome
A lack of breast development and menstrual periods in females at puberty.
No development of sex characteristics in males at puberty, such as enlarged penis and testes, facial hair and deepening of their voice.
Short stature (in some cases).
Anosmia (in some cases).
Decreased energy or fatigue.
Decrease or loss of menstrual periods in females.
Low sex drive in males.
Diagnosis of Kallmann Syndrome
Parents usually notice a lack of sexual maturation during puberty which prompts them to make an appointment with their child’s healthcare provider. They’ll examine your child and ask questions about their symptoms. If Kallmann syndrome is suspected, their provider may order more tests, including:
A hormone evaluation.
Olfactory function testing to test your child’s sense of smell.
Imaging tests, such as magnetic resonance imaging (MRI) to assess the olfactory bulbs in their brain.
Treatment of Kallmann Syndrome
Testosterone injections, skin patches or gels for males.
Estrogen and progesterone pills or skin patches for females.
GnRH injections, which may be used to induce ovulation in females who don’t have regular ovulation or menstrual periods.
HCG injections, which can be used to increase sperm count in males and increase fertility in females.