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      Interrupción del tallo hipofisario como causa poco frecuente de amenorrea primaria Translated title: Pituitary stalk disruption as a rare cause of primary amenorrhea

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          Abstract

          RESUMEN El síndrome de interrupción del tallo hipofisario es una anomalía congénita de probable origen genético causante de hipopituitarismo, que radiológicamente se caracteriza por hipoplasia de la adenohipófisis, neurohipófisis ectópica e interrupción del tallo hipofisario. Suele presentarse con baja estatura y deficiencia de hormonas adenohipofisarias. El retraso en el diagnóstico se relaciona con alta morbimortalidad. Se reporta el caso de una mujer de 24 años que consulta por amenorrea primaria. Presentaba talla baja y ausencia de caracteres sexuales secundarios, con genitales infantiles. Los exámenes paraclínicos mostraron compromiso de dos ejes hipofisarios. Una resonancia magnética nuclear mostró hallazgos consistentes con síndrome de interrupción de tallo hipofisario.

          Translated abstract

          ABSTRACT Pituitary stalk disruption syndrome is a congenital abnormality of probable genetic origin that causes hypopituitarism, which is radiologically characterized by adenohypophysis hypoplasia, ectopic neurohypophysis, and pituitary stalk disruption. It usually presents with short stature and adenohypophyseal hormone deficiency. The delay in diagnosis is related to high morbidity and mortality. The case of a 24-year-old woman who consulted for primary amenorrhea is reported. She had short stature and no secondary sexual characteristics, with infantile genitalia. Paraclinical examinations showed involvement of two pituitary axes. An MRI scan showed findings consistent with pituitary stalk disruption syndrome.

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          DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations

          Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It is heterogeneous regarding clinical, biological and radiological presentation and is characterized by the following triad: thin (<1 mm) or interrupted pituitary stalk connecting the hypothalamus to the pituitary gland, no eutopic posterior lobe, and hypoplasia or aplasia of the anterior lobe. This review reports current knowledge about the composite pathogenesis, for which underlying mechanisms remain unclear. Current data suggest genetic origins involving early developmental gene mutations with complex inheritance patterns and environmental influence, placing PSIS at the crossroads between Mendelian and multifactorial diseases. The phenotype associated with PSIS is highly heterogeneous with a high incidence of various combinations of hormonal deficiencies, sometimes associated with extra-pituitary birth defects. The age at onset is variable, but typical presentation is evolutive combined anterior pituitary hormone deficiencies at pediatric age, which progress even during adulthood to panhypopituitarism. Therefore, patients’ follow-up throughout life is essential for adequate management.
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            Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis

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              Pituitary stalk interruption syndrome in 59 children: the value of MRI in assessment of pituitary functions.

              Pituitary imaging abnormality is a specific indicator of hypopituitarism. This study involved a retrospective review of 59 children diagnosed with pituitary stalk interruption syndrome (PSIS). Of the 59 eligible patients, 54 were born by breech delivery, and there was a significant difference between numbers of patients with breech and head-presenting birth. In order to discuss the relationship between pituitary functions and delineation of pituitary structure in magnetic resonance imaging (MRI), a control analysis was carried out in children with PSIS. Fifty-nine children were subdivided into two groups: group I (partial PSIS, 20 cases) and group II (complete PSIS, 39 cases). There was a significantly small anterior pituitary in both groups of PSIS compared with controls (P < 0.001). The incidence of ectopic posterior pituitary (EPP) was significantly higher in group II (P < 0.001). Before and after hormone replacement therapy, pituitary functions were measured and compared with controls. The levels of growth hormone (GH), free thyroxine (FT4), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), and cortisol (COR) were significantly lower in group II (P < 0.05). The dosage of levothyroxine sodium in group II was significantly higher than in group I (P < 0.01). Conclusion. On the basis of birth history, breech presentation may a forewarning for subsequent pituitary hormone deficiencies. Grades of MRI can predict occurrence and severity of PSIS, which are also correlated with the levels of the pituitary target hormone deficiencies. Interruption of pituitary stalk and ectopic posterior pituitary both represent important markers of pituitary structure and function.
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                Author and article information

                Journal
                rccsalud
                Revista científica ciencias de la salud
                Rev. cient. cienc. salud
                Universidad del Pacífico (Asunción, , Paraguay )
                2664-2891
                December 2021
                : 3
                : 2
                : 112-115
                Affiliations
                [1] Asunción orgnameInstituto de Previsión Social. Servicio de Endocrinología Paraguay
                Article
                S2664-28912021000200112 S2664-2891(21)00300200112
                10.53732/rccsalud/03.02.2021.112
                ede98ff7-2097-4bb3-b116-64eff3faafce

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                : 01 March 2021
                : 01 August 2021
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 7, Pages: 4
                Product

                SciELO Paraguay

                Categories
                Reporte de Casos

                hipopituitarismo,amenorrhea,congenital anomalies,hypopituitarism,amenorrea,anomalías congénitas

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