Abstract
Pituitary stalk interruption syndrome (PSIS) is an extremely rare cause of growth failure and delayed puberty. It can be diagnosed by magnetic resonance imaging (MRI) of the hypothalamus and pituitary gland, showing an ectopic or absent posterior pituitary, an absent or interrupted pituitary stalk, or small anterior pituitary, in combination with growth hormone or other pituitary hormone deficiencies. The exact etiology of PSIS is unknown. In this article, we describe two cases of PSIS in Syria which are, as far as we know, the first published cases.
Highlights
Growth failure is one of the most common reasons for referral to the endocrine clinic
Pituitary stalk interruption syndrome (PSIS, ORPHA 95496) is an extremely rare disorder, but its exact prevalence is still unknown [2]. is syndrome is a congenital anomaly of the pituitary gland characterized by growth hormone (GH) deficiency along with radiological features of a thin or interrupted pituitary stalk, an ectopic or absent posterior pituitary, or a hypoplastic or absent anterior pituitary [3, 4]
We describe two cases of PSIS that were diagnosed in boys at different ages from Syria
Summary
Growth failure is one of the most common reasons for referral to the endocrine clinic. The most frequent causes of short stature are constitutional and genetic, endocrine disorders, especially growth hormone (GH) deficiency, should always be considered [1]. Pituitary stalk interruption syndrome (PSIS, ORPHA 95496) is an extremely rare disorder, but its exact prevalence is still unknown [2]. Is syndrome is a congenital anomaly of the pituitary gland characterized by GH deficiency (with or without other pituitary hormone deficiencies) along with radiological features of a thin or interrupted pituitary stalk, an ectopic or absent posterior pituitary, or a hypoplastic or absent anterior pituitary [3, 4]. We describe two cases of PSIS that were diagnosed in boys at different ages from Syria
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