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      Pituitary stalk interruption syndrome: Case report of three cases with review of literature

      case-report

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          Abstract

          Pickardt syndrome (Pickardt-Fahlbusch syndrome) is a rare congenital syndrome characterized by tertiary hypothyroidism caused by the interruption of the portal veins between hypothalamus and adenohypophysis. Typical features of this syndrome are tertiary hypothyroidism with low thyroid stimulating hormone, hyperprolactinemia and other pituitary hormone deficiencies. Pituitary stalk interruption syndrome is characterized by a triad of thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary (EPP) seen on magnetic resonance imaging (MRI). It is a congenital anomaly of pituitary whose exact prevalence is unknown. In some cases, it is restricted to EPP or pituitary stalk interruption. We are presenting the case history along with MRI finding of three children's who presented with short stature and delayed puberty.

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          Most cited references12

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          Transection of the pituitary stalk: development of an ectopic posterior lobe assessed with MR imaging.

          Magnetic resonance (MR) imaging was performed in ten patients with pituitary stalk transection who had idiopathic pituitary dwarfism. Contiguous sagittal T1-weighted images were obtained in all cases, and, in some, axial or coronal images were taken for further evaluation. On MR images, normal anterior and posterior lobes of the pituitary gland can be clearly differentiated because the posterior lobe has a characteristic high intensity on T1-weighted images. In the ten patients, the high-intensity posterior lobe was not seen, but a similar high signal intensity was observed at the proximal stump in seven patients. This high-intensity area is the newly formed ectopic posterior lobe, which secretes antidiuretic hormone just as the posterior lobe would. When the ectopic lobe completely compensates for the impaired posterior lobe, endocrinologic data indicate normal posterior lobe function. However, MR imaging can reveal the transection of the pituitary stalk and formation of the ectopic lobe.
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            Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis.

            The detection of pituitary stalk interruption syndrome (PSIS) by magnetic resonance imaging is a diagnostic marker of permanent GH deficiency (GHD), but the pathogenesis of PSIS is unknown. Fifty-one patients (27 males) with GHD and PSIS were classified according to whether the GHD was isolated (group 1, 16 cases) or associated with other anterior pituitary abnormalities (group 2, 35 cases). The 2 groups had similar characteristics (frequencies of perinatal abnormalities, ages at occurrence of first signs and at diagnosis, height, GH peak response to stimuli other than GHRH), but associated malformations were less frequent in group 1 (12%) than in group 2 (54%; P < 0.01), hypoglycemia occurred in 25% of group 1 and 70% of group 2 (P < 0.01), and the GH peak response to GHRH was less than 10 micrograms/L in 0% of group 1 (4 cases evaluated) and 57% of group 2 (21 cases; P < 0.05). Thirty-one cases (61%; 25 from group 2) had features suggesting an antenatal origin: familial form (4 cases), microphallus (10 boys), and/or associated malformations (50%; 21 cases). Twenty-seven cases (53%, 22 from group 2) had features suggesting a hypothalamic origin. The three group 1 patients with a GH peak of 1 microgram/L or less had no large GH-N gene deletion. One familial form had no linkage between the GHD phenotype and abnormal GH-N locus, and the only mutation described to date in the GHRH receptor gene was absent. The two patients with low plasma PRL levels had no Pit-1 gene abnormality. Thus, most of the patients with GHD associated with multiple anterior pituitary abnormalities and PSIS have features suggesting an antenatal origin. The GH-N, GHRH receptor, and Pit-1 genes do not seem to be implicated in PSIS.
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              17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

              We report the case of a 26-month-old boy with mental retardation, facial dysmorphism, childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart defect. Endocrinal evaluation revealed complete growth hormone deficiency (GHD) and gonadotropic deficiency, and pituitary magnetic resonance imaging showed partial pituitary stalk interruption syndrome (PSIS). A de novo 493 kb microdeletion on chromosome 17q21.31 was identified using array comparative genomic hybridization (array-CGH) analysis. This is the first report of PSIS in the phenotypical spectrum of 17q21.31 microdeletion syndrome, although other midline abnormalities have previously been described. Our report suggests that GHD should be investigated in patients with 17q21.31 microdeletion syndrome and short stature, defined by a body height below - 2 standard deviation scores (SDS) for age and sex. This finding also opens new avenues of research on the etiopathogenesis of PSIS, for which the genetic mechanisms remain unknown.
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                Author and article information

                Journal
                J Pediatr Neurosci
                J Pediatr Neurosci
                JPN
                Journal of Pediatric Neurosciences
                Medknow Publications & Media Pvt Ltd (India )
                1817-1745
                1998-3948
                May-Aug 2014
                : 9
                : 2
                : 188-191
                Affiliations
                [1]Department of Endocrinology, LLRM Medical College, Meerut, India
                [1 ]Department of Radiodiagnosis, SGPGI, Lucknow, Uttar Pradesh, India
                Author notes
                Address for correspondence: Dr. Manish Gutch, D-15, LLRM Medical College, Meerut - 250 004, Uttar Pradesh, India. E-mail: manish07gutch@ 123456gmail.com
                Article
                JPN-9-188
                10.4103/1817-1745.139363
                4166852
                25250085
                2ba018dd-fbd1-4bdb-bca5-5013dc0202dd
                Copyright: © Journal of Pediatric Neurosciences

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Case Report

                Neurosciences
                delayed puberty,ectopic posterior pituitary,multiple pituitary hormones deficiency,pituitary stalk interruption syndrome

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