Open AccessA rare cause for primary amenorrhoea
Author(s) -
K H Noorul Ameen,
Rakesh Pinninti
Publication year - 2012
Publication title -
journal of human reproductive sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.484
H-Index - 31
eISSN - 0974-1208
pISSN - 1998-4766
DOI - 10.4103/0974-1208.101026
Subject(s) - gonadal dysgenesis , primary amenorrhea , karyotype , dysgenesis , medicine , amenorrhea , gynecology , pediatrics , endocrinology , biology , pregnancy , genetics , anatomy , chromosome , gene
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault's syndrome. Perrault syndrome is a rare autosomal recessive condition affecting both females and males; only females have gonadal dysgenesis associated with sensorineural deafness, which is present in both sexes. We present a case of sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features and normal karyotype. There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus. We report this case for its rarity and add to the spectrum of the disease that remains undetermined.