Kallmann's Syndrome Case Study

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Kallmann’s Syndrome : A Rare Case Report ABSTRACT : Background : KALLMANN SYNDRME (kal S), a Developmental Hypothalamic Dysfunction, resulting from defective Hypothalamic Gonadotropin-releasing Hormone (GnRH) synthesis and is seen in association with Hyposmia or Anosmia ( a deficiency of sense of smell ) due to olfactory bulb/tract hypoplasia or agenesis. Clinical Features of the syndrome are attributed to GnRH deficiency as well as underlying genetic defect. It is not unusual for congenital causes of hypogonadotropic hypogonadism , such as kallmann’s syndrome, to be diagnosed in young adults. The diagnosis of the syndrome is reliant on characteristic clinical features and magnetic resonance imaging revealing olfactory bulb/tract hypoplasia/agenesis. …show more content…

It is not unusual for congenital causes of hypogonadotropic hypogonadism , such as kallmann’s syndrome, to be diagnosed in young adults. Prevalence of the syndrome worldwide and in indian population Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females. The prevalence of Kallmann’s syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. Key Words : IHH- isolated hypogonadotropic hypogonadism Kal S- kallmann’s syndrome CASE REPORT : 19 year old male (DOB-19/7/1992), born of non-consanguineous marriage, presented as an outpatient case to surgical opd with chief complaints of absence of secondary sexual characters, unbroken voice, headache. Patient was referred to endocrine clinic at the same centre where further workup of the case was done with subsequent follow up. Birth history of the case revealed full term normal vaginal home delivery without any prenatal/perinatal/postnatal complications. He …show more content…

As per the genetics of the syndrome, a number of associated non-reproductive,