A patient’s perspective:

 “Long term psychological effects of delayed diagnosis of Hypogonadotrophic Hypogonadism in patients with delayed puberty”.

"Puberty is considered to be clinically delayed if sexual maturation has not become apparent by the age of 14 years in boys or age 13 years in girls."

"Using these criteria, approximately 2.5% of healthy adolescents will be identified as having pubertal delay"

Delayed Puberty. Rosen, DS, Foster C. Pediatrics in Review 2001;22;309

While the majority of these individuals will go on to experience normal puberty, albeit a couple of years later than their peer group; there is a perhaps a need to evaluate all patients who appear to be delayed to eliminate other causes for their pubertal failure.

One possible cause of a delay or absence of puberty is Kallmann syndrome (KS) and other forms of hypogonadotrophic hypogonadism (HH). Most cases are not detected as adolescents, even if they display the anosmia seen in KS. Both KS and HH show variable physical symptoms even within family members, which in addition to the absence of a clear cut genetic test make diagnosis of KS and HH problematic at times.

Combined KS and HH have a probable incidence of approximately 1 in 4,000 males and 1 in 25,000 females. Without treatment patients will remain infertile with no or poorly defined secondary sexual characteristics and be at increased risk of developing osteoporosis.

From a patient’s point of view I feel there is a need to ensure that any adolescent with pubertal delay should be referred on for an endocrinology review. The benefits of early diagnosis and treatment of KS / HH both on a physical level and on a psychological level cannot be overestimated. An early endocrine review will be able separate a case of normal constitutional delay of puberty from a case which will require extra investigation.

From my own personal experience and from conversations with others in patient support groups the label of “late bloomer” or “late developer” can lead onto deeper psychological issues later in life as patients get left behind both physically and emotionally from their own peer group.

The social isolation some patients feel can be avoided by early diagnosis and treatment. It is clear from conversations within our support groups the earlier a diagnosis is made and the correct treatment started the more beneficial it is to the patient in later life. The ability to put a name to the condition would at least allow the patient to know there is a reason for the absence of puberty and they are not alone with the condition.

Neil Smith.

neilsmith38@hotmail.com
www.kallmanns.org