2016Ibnosina Journal of Medicine and Biomedical SciencesOpen access

Kallmann syndrome with short stature and pituitary hypoplasia

S. Baki, R. El Latifi, G. El Mghari, Nawal El Ansari

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Abstract

Kallmann syndrome (KS) is a rare disease in which hypogonadotropic hypogonadism and anosmia co-exist. In KS, the gonadotropic deficiency is isolated, the other pituitary hormones, especially the growth hormone, are preserved. We report the case of a 17 year old male having a sporadic case of KS associated with growth retardation. The diagnosis was based on hormonal workup and specific features on the MRI. The pituitary gland was hypoplastic. The patient was diagnosed to have Kallmann's syndrome with short stature associated to pituitary hypoplasia. To the best of our knowledge, this is the first case to be described in the literature combining KS, short stature and hypoplastic pituitary gland.

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What this paper is about

Kallmann syndrome (KS) is a rare disease in which hypogonadotropic hypogonadism and anosmia co-exist. In KS, the gonadotropic deficiency is isolated, the other pituitary hormones, especially the growth hormone, are preserved. We report the case of a 17 year old male having a sporadic case of KS associated with growth retardation. The diagnosis was based on hormonal workup and specific features on the MRI. The pituitary gland was hypoplastic. The patient was diagnosed to have Kallmann's syndrome with short stature associated to pituitary hypoplasia. To the best of our knowledge, this is the first case to be described in the literature combining KS, short stature and hypoplastic pituitary gland.

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Available abstract

Kallmann syndrome (KS) is a rare disease in which hypogonadotropic hypogonadism and anosmia co-exist. In KS, the gonadotropic deficiency is isolated, the other pituitary hormones, especially the growth hormone, are preserved. We report the case of a 17 year old male having a sporadic case of KS associated with growth retardation. The diagnosis was based on hormonal workup and specific features on the MRI. The pituitary gland was hypoplastic. The patient was diagnosed to have Kallmann's syndrome with short stature associated to pituitary hypoplasia. To the best of our knowledge, this is the first case to be described in the literature combining KS, short stature and hypoplastic pituitary gland.

Key concepts: Kallmann syndrome, Medicine, Anosmia, Hypogonadotropic hypogonadism, Short stature, Hypogonadotrophic hypogonadism, Hypoplasia, Delayed puberty

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