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This one is about: Kallmann Syndrome


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Kallmann Syndrome: clefts plus endocrine problems, 
  Often associated with median facial clefts 
  often includes sex organ problems (smaller, late puberty) 
  
The page just one & nothing more on it located at:

http://www.icondata.com/health/pedbase/files/KALLMANN.HTM

Discipline: END

Last Updated: 5/19/94

**** KALLMANN SYNDROME **** 

DEFINITION:

An x-linked disorder characterized by a GnRH deficiency with hypogonadotropic hypogonadism and delayed puberty, and smelling deficiencies.

EPIDEMIOLOGY:

    incidence: 1/10,000 (M); 1/50,000 (F) 
          1/25 in hyposmic or anosmic patients 
          1/30 in 46, XY patients with hypogonadism 
    age of onset: 
          adolescence (with delayed puberty) 
    risk factors: 
          familial - x-linked recessive (also autosomal recessive and 
          autosomal dominant forms) 
          chrom.#: Xp22.3 
          gene: ? 
    may be associated with other x-linked disorders 
          steroid sulfatase deficiency (x-linked ichthyosis) 
          Conradi Syndrome 
    M > F (5:1) 

PATHOGENESIS:

    1. Genetic Defect 

           genetic defect -> interference with the migration of   
           GnRH-secreting cells arising
           from the nasal placode (precursor of the nose) to the 
           hypothalamus during fetal life
           results in: 
           agenesis of the olfactory lobes -> smelling difficulties 
           GnRH deficiency -> decreased secretion of LH and FSH -> 
           failure to develop secondary sexual characteristics 
           GnRH deficiency may be complete or partial 
           this disorder is considered to be a defect of the hypothalamus 
           and not the pituitary (i.e., secondary hypogonadism) 
           genetic heterogeneity -> phenotypic heterogeneity 

CLINICAL FEATURES:

    1. Major

           highly variable 
           anosmia -> hyposmia -> euosmia 
           hypogonadism -> normal gonads 
           lack of -> delayed -> normal development of secondary sexual 
           characteristics 

    2. Others

           1. Facial

              choanal atresia 
              cleft palate +/- lip 
              hearing loss and deafness 
              hypotelorism 
              median facial clefts 

           2. Genitourinary

              renal anomalies (unilateral agenesis) 
              cryptorchidism in males 
              decreased spermatogenesis 
              increased risk of testicular tumors 

           3. Neurologic

              borderline to normal intelligence 

INVESTIGATIONS:

    1. Serum

       low levels of testosterone (androgens) 
       prepubertal levels of LH and FSH 
       positive response to GnRH stimulation 

    2. Imaging Studies

       1. MRI/CT

             absent olfactory bulbs - unilateral or bilateral 

MANAGEMENT:

    1. Medical

       1. Hormonal Replacement

              estrogen or testosterone 
              pulsatile GnRH or repeated hCG injections 

    2. Supportive

       psychological counselling 
       genetic counselling 

    3. Prognosis

       normal life span


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