Primary amenorrhea as the initial presentation of Triple X syndrome: three case reports

SABRINE ABCHOUCHE; LEILA ROUIMI; MOHAMMED AMINE ESSAFI; ZINEB EL AZIME; HAYAT AYNAOU; HOUDA SALHI

doi:10.36948/ijfmr.2026.v08i04.81836

Primary amenorrhea as the initial presentation of Triple X syndrome: three case reports

Author(s)	Dr. SABRINE ABCHOUCHE, Dr. LEILA ROUIMI, Prof. MOHAMMED AMINE ESSAFI, Prof. ZINEB EL AZIME, Prof. HAYAT AYNAOU, Prof. HOUDA SALHI
Country	Morocco
Abstract	Trisomy X is characterized by a wide spectrum of clinical presentations and may remain underdiagnosed because of its often subtle expression. Clinical manifestations are variable and may include normal or increased stature, learning difficulties, menstrual disturbances, and, in certain cases, premature ovarian insufficiency. Mosaic forms involving 45,X or 46,XX may be associated with more severe phenotypes such as growth retardation and hypergonadotropic hypogonadism, and the diagnosis is established by karyotype analysis. We report three observations illustrating the clinical variability of triple X syndrome. The first case concerns a 17-year-old girl with a mild phenotype who presented with primary amenorrhea despite complete pubertal development; karyotyping demonstrated homogeneous trisomy X (47,XXX), and spontaneous menstruation subsequently occurred. The second case involves a 17-year-old patient with growth retardation, delayed puberty, and dysmorphic features; cytogenetic analysis revealed a complex mosaicism 45,X / 46,XX / 47,XXX associated with hypergonadotropic hypogonadism. The third case is a 21-year-old woman, tall and in good general condition, who presented with primary amenorrhea related to primary ovarian failure; investigations identified a 47,XXX karyotype associated with uterine hypoplasia. These observations highlight the marked clinical heterogeneity of trisomy X, ranging from a nearly normal phenotype to presentations resembling Turner syndrome, with diverse modes of presentation including primary amenorrhea with normal pubertal development, severe pubertal delay, and primary ovarian failure. The variability of clinical presentations supports the use of karyotype analysis in the evaluation of pubertal or reproductive disorders, including primary amenorrhea, growth delay, and hypergonadotropic hypogonadism.
Keywords	Triple x syndrome , primary ovarian failure , primary amenorrhea , karyotype analysis , fertility preservation , growth abnormalities
Field	Médical / Pharmacie
Published In	Volume 8, Issue 4, July-August 2026
Published On	2026-08-04
DOI	https://doi.org/10.36948/ijfmr.2026.v08i04.81836

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Primary amenorrhea as the initial presentation of Triple X syndrome: three case reports

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