Abstract

*Dr. Oussama Outaghyame, Alaa Bouchaib, Mohamed Liban Mahdi, Hajar Halim, Jihad Drissi, Moulay Abdellah Babahabib and Jaouad Kouach

ABSTRACT

An iso chromosome is an abnormal chromosome consisting of two long arms or two short arms of the same chromosome with loss of the other arm. The long arm iso chromosome of the X chromosome is a variant of Turner syndrome. We report the case of an 18 year old female patient, without any notable pathological history, who consulted us for primary amenorrhea with a delay in height and weight, in whom the clinical examination showed a female morphotype, with no disorders of sexual differentiation, and no signs of virilization. The karyotype showed a 46XX with isochromosome of the long arm of the X chromosome. The hormonal assessment showed a very high level of pituitary gonadotropins.