Syndrome d’interruption de la tige pituitaire à révélation tardive

Marmouch, H.; Graja, S.; Arfa, S.; Boubaker, F.; Khochtali, I.

doi:10.11604/pamj.2016.23.108.8801

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…The clinical consequences of pituitary hormone deficiency are diverse, including short stature, hypothyroidism, hypercortisolism, hypogonadism, and so on [5,12,13] . There are some late-onset reports of PSIS, [5,14] while PSIS manifested in newborns is rarely reported. However, the manifestations of neonatal PSIS are complex and serious, even life-threatening [3–6] .…”

Section: Discussionmentioning

confidence: 99%

Hypoglycemia and jaundice in newborns with pituitary stalk interruption syndrome

et al. 2021

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Pituitary stalk interruption syndrome (PSIS) is a rare disease associated with either isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD). In older children and adults, most patients experience short stature or hypogonadism. Neonatal PSIS is extremely rare and is difficult to recognize due to absence of dwarfism. However, when this condition occurs in newborns, it is often life-threatening. Here, we collected patients with neonatal PSIS to clarify its characteristics to improve its early diagnosis. The patients included in this study were treated at the pediatric endocrine department of Shandong Provincial Hospital from January 2017 to July 2020. We obtained the clinical characteristics, endocrine hormone levels, pituitary magnetic resonance imaging (MRI) and further genetic data for all the patients. Hormone therapy was first given at the time of diagnosis, and the patients received regular follow-up. Three neonatal patients were identified in our clinic. The characteristics of these patients included hypoglycemia and jaundice, as well as CPHD, which included features such as micropenis and hypothyroidism. Genetic etiology was still hard to discover. All the patients responded well to alternative therapy, and the longest follow-up period was 3 years. Regular replacement ensures good prognosis. Sustained hypoglycemia and jaundice in newborns, indicate the presentation of PSIS. Early recognition is of great importance to avoid a life-threatening crisis.

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Section: Discussionmentioning

confidence: 99%

Hypoglycemia and jaundice in newborns with pituitary stalk interruption syndrome

et al. 2021

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“…Despite these clear symptoms, very delayed diagnosis of panhypopituitarism has already been described, usually as single case reports (Table 3) [1,2,4,[6][7][8][9][10][11].…”

Section: Abstract Separated By ' -'mentioning

confidence: 99%

Delayed diagnosis of congenital hypopituitarism associated with low socio-economic status and/or migration

et al. 2019

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“…For example, Olszewska et al [ 3 ] published a case report of severe panhypopituitarism with PSIS in a newborn (4-day-old male) delivered by a mother with Turner Syndrome. Marmouch et al [ 4 ] reported a case of late PSIS onset in which a 17-year-old female patient presented primary amenorrhea and impuberism. Symptoms of PSIS can be overlooked during the neonatal period and infancy, therefore, diagnosis can be delayed.…”

Section: Introductionmentioning

confidence: 99%

Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency

Jang

2017

Ann Pediatr Endocrinol Metab

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Pituitary stalk interruption syndrome (PSIS) involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging. Patients with PSIS have a variable degree of pituitary hormone deficiency and a wide spectrum of clinical manifestations. The clinical course of the disease in our patient is similar to that of a syndrome of inappropriate antidiuretic hormone secretion. This is thought to be caused by failure in the suppression of vasopressin secretion due to hypocortisolism. To the best of our knowledge, there is no case report of a patient with PSIS presenting with hyponatremia as the first symptom in Korean children. Herein, we report a patient with PSIS presenting severe recurrent hyponatremia as the first symptom, during adolescence and explain the pathophysiology of hyponatremia with secondary adrenal insufficiency.

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Syndrome d’interruption de la tige pituitaire à révélation tardive

Cited by 3 publications

References 10 publications

Hypoglycemia and jaundice in newborns with pituitary stalk interruption syndrome

Hypoglycemia and jaundice in newborns with pituitary stalk interruption syndrome

Delayed diagnosis of congenital hypopituitarism associated with low socio-economic status and/or migration

Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency

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