Hereditary spherocytosis

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Hypogonadism

A decreased functionality of the gonad.


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PMID (PMCID)
1308359
 MALE Infant
Deletion of the proximal short arm of chromosome 8.
Stratton RF, Crudo DF, Varela M, Shapira E.
Am J Med Genet. 1992;42(1):15-8.
Four previous case reports with similar deletions (p11.1p21) were associated with hypogonadotropic hypogonadism [Beighle et al., Hum Genet 38:113-121, 1977] and hereditary spherocytosis (HS) [Chilcote et al., Blood 6:156-159, 1987; Kitatani et al., Hum Genet 78:94-95, 1988; Lux et al., Nature 345:736-739, 1990].