What Are the Signs of CHH/KS?

In people with congenital hypogonadotropic hypogonadism (CHH) or Kallmann Syndrome (KS), signs of puberty disruption are most easily recognized in adolescence and young adulthood.
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Signs of puberty disruption in adolescence and young adulthood.
Female
  • Absent or limited breast development
  • Underdeveloped feminine figure
  • Scant pubic hair
  • No menstrual bleeding
Male
  • High-pitched voice
  • No beard growth
  • Lack of muscle mass
  • Little to no pubic hair
  • Underdeveloped genitals
For many people, there are no signs of CHH/KS before puberty. However, there are other, earlier signs that can occur.
Possible signs of CHH/KS
Red flags signs
  • KS Only: No sense of smell (anosmia)
  • In male infants:
  • Micropenis
  • Undescended testes (cryptochidism)
Outward signs
  • Deafness
  • Cleft lip/palate
  • Missing teeth
  • Curved spine
  • Mirror movements
  • Short or fused fingers
  • Underdeveloped testes/penis
  • Sleep disruption
Internal signs
  • Heart defects
  • Weak bones
  • Only 1 kidney
Recognizing the signs of CHH/KS can be a challenge. Although CHH and KS are present from birth (congenital), most people are not diagnosed until adolescence or early adulthood. People with CHH/KS may be mistakenly labeled as "late-bloomers" or as simply having delayed puberty, further delaying accurate diagnosis and targeted treatment.
How is CHH/KS Diagnosed?
The timing of puberty is different for everyone and can be delayed even in those who do not have CHH/KS. These factors make CHH/KS difficult to identify.
Doctors may not be able to tell if puberty is just delayed (but normal), or if the delay is caused by CHH/KS. You can help find CHH/KS early by following these steps:
The number 1
Raise suspicion of CHH/KS
  • See the doctor at least once each year to follow the progress of puberty
  • Discuss any lack in the sense of smell.
  • In females: suspect CHH/KS if there is no breast development by age 14 or 15 and no period bleeding (menstruation) by age 16 or 17.
  • In males: suspect CHH/KS if there are no signs of puberty, such as testicular enlargement, by age 16.
The number 2.
If CHH/KS is suspected, test for low hormone levels to help support a diagnosis
  • In females: Low estrogen, LH, and FSH can support a CHH/KS diagnosis.
  • In males: Low testosterone, LH, and FSH can support a CHH/KS diagnosis.
The number 3.
Confirm a diagnosis of CHH/KS by ruling out other causes
CHH/KS cannot be diagnosed through a blood test alone. Doctors should perform additional tests to rule out other causes of low hormone levels. These may include additional blood tests and imaging such as x-rays, ultrasound, and magnetic resonance imaging (MRI).
Early CHH/KS diagnosis is important to take full advantage of available treatments that can help support health and wellbeing.
Learn about treatment
Explore more details about diagnosis

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