Recognize

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:

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.

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.

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).

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What Are the Signs of CHH/KS?

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