Pituitary Stalk Interruption Syndrome (PSIS)

Vijayanand, P.; Mahadevan, Shriraam; Shivbalan, So; Reddy, Nisha; Ramdoss, N.

doi:10.1007/s12098-007-0161-4

Cited by 11 publications

(10 citation statements)

References 8 publications

(10 reference statements)

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“…This syndrome includes a series of clinical findings due to the pituitary stalk absence combined with ectopic posterior pituitary; thus the hormone secreted from hypothalamus could not be transmitted to anterior pituitary through pituitary stalk [15]. Patients with PSIS have various degrees of anterior pituitary hormone deficiency.…”

Section: Discussionmentioning

confidence: 99%

Pituitary Stalk Interruption Syndrome in Chinese People: Clinical Characteristic Analysis of 55 Cases

Guo

Yang

et al. 2013

PLoS ONE

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ObjectivePituitary stalk interruption syndrome (PSIS) is characterized by the absence of pituitary stalk, pituitary hypoplasia, and ectopic posterior pituitary. Due to the rarity of PSIS, clinical data are limited, especially in Chinese people. Herein, we analyzed the clinical characteristics of patients diagnosed with PSIS from our center over 10 years.Patients and MethodsWe retrospectively analyzed the clinical manifestations and laboratory and MRI findings in 55 patients with PSIS.ResultsOf the 55 patients with PSIS, 48 (87.3%) were male. The average age was 19.7±6.7 years and there was no familial case. A history of breech delivery was documented in 40 of 45 patients (88.9%) and 19 of 55 patients (34.5%) had a history of dystocia. Short stature was found in 47 of 55 patients (85.5%) and bone age delayed 7.26±5.37 years. Secondary sex characteristics were poor or undeveloped in most patients. The prevalence of deficiencies in growth hormone, gonadotropins, corticotropin, and thyrotropin were 100%, 95.8%, 81.8%, 76.3%, respectively. Hyperprolactinemia was found in 36.4% of patients. Three or more pituitary hormone deficiencies were found in 92.7% of the patients. All patients had normal posterior pituitary function and absent pituitary stalk on imaging. The average height of anterior pituitary was 28 mm, documented anterior pituitary hypoplasia. Midline abnormalities were presented in 9.1% of patients.ConclusionsThe clinical features of our Chinese PSIS patients seem to be different from other reported patients in regarding to the higher degree of hypopituitarism and lower prevalence of midline defects. In addition, our patients were older at the time of case detection and the bone age was markedly delayed. We also had no cases of familial PSIS.

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Section: Discussionmentioning

confidence: 99%

Pituitary Stalk Interruption Syndrome in Chinese People: Clinical Characteristic Analysis of 55 Cases

Guo

Yang

et al. 2013

PLoS ONE

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“…It was first reported by Fujisawa et al [ 1 ]. It is associated with either isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD) - growth hormone deficiency associated with abnormality of at least one of the other anterior pituitary hormones, with normal function of posterior pituitary [ 2 ]. Although the exact prevalence of PSIS is uncertain, a recently published report showed the estimated incidence of 0.5 in every 1,000,000 births [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…In neonates it presents as neonatal hypoglycemia, prolonged neonatal (physiological) jaundice, cryptorchidism, and micropenis. In older children and adults it is characterized by short stature [ 2 , 5 ]. Diagnosis of PSIS can be suspected from clinical findings, but a magnetic resonance imaging (MRI) scan can provide a definitive diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Pituitary stalk interruption syndrome presenting as short stature: a case report

Ram

Hussain

2014

J Med Case Reports

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IntroductionPituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. In adults it presents as short stature and anterior pituitary deficiency. Without early diagnosis and treatment, mortality and morbidity in these patients is high. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome from Pakistan.Case presentationA 17-year-old Pakistani young man presented with short stature and underdeveloped secondary sexual characters. His siblings and parents were healthy, with normal height. An examination showed his blood pressure was 90/60mmHg, and his height, weight, and body mass index were 142cm, 34.5kg, and 17.10kg/m2, respectively. He had no hair growth on his face, axilla, or pubis. His testes were between 1 and 2mL in size, with a 4cm-at-stretch micropenis. His lab investigations showed that his thyroid stimulating hormone (TSH) was 8.58uIU/mL (0.4 to 4.2), his free thyroid hormone level FT4 was 0.46ng/dL (0.89 to 1.76), his prolactin was 21.1ng/mL (3.0 to 14.7), and his baseline cortisol was 0.30ug/dL (4.3 to 22.4). His cortisol level after 60 minutes of cosyntropin injection was 3.5ug/dL (4.3 to 22.4), his insulin like growth factor IGF-1 was 31.56ng/mL (247.3 to 481.7), his testosterone level was under 2.5ng/dL (2 to 800), his follicle stimulating hormone FSH was 0.41uIU/mL (0.0 to 10.0), and his leutinizing hormone LH was under 0.1uIU/mL (1.2 to 7.8). His bone age was 10 years according to the Greulich and Pyle method, as shown by X-rays. The results from his pituitary magnetic resonance imaging scan were consistent with pituitary stalk interruption syndrome.ConclusionsWe describe a young man who presented with short stature and was found to have pituitary stalk interruption syndrome. Despite the fact that this is a rare disorder, it should always be kept in the differential diagnosis of a patient presenting with short stature. Patients with this disease have an excellent opportunity to reach normal height if they present before the joining of epiphyses.

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“…Klinik bulgular yaş gruplarına göre değişkenlik göstermektedir. Yenidoğan döneminde hipoglisemi, uzamış sarılık, inmemiş testis ve mikropenis, çocukluk döneminde boy kısalığı ve puberte gecikmesi ile karakterizedir (9,10) . Tanı, klinik ve laboratuvar bulgulardan yola çıkılarak yapılan hipofiz manyetik rezonans görüntülemedeki (MRG) tipik bulguların (ön hipofizin hipoplazisi/aplazisi, ektopik posterior hipofiz, hipofiz sapının yokluğu veya ince olması) varlığına göre konmakta-…”

Section: Introductionunclassified

“…. Laboratuvar tetkiklerinde, rutin biyokimyasal incelemeleri normal, TSH:5,25 uIU/ml (0,51-4,30), serbest T4: 0,97 ng/dl (0,98-1,63), sT3: 3,34 pg/ml (2,56-5,01), FSH: 6,11 mIU/ml(3,(5)(6)(7)(8)(9)(10)(11)(12)5), LH:…”

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Pituitary Stalk Interruption Syndrome Diagnosed with Different Clinical Findings: Report of Two Cases

Ayranci¹,

Çatlı²,

Filibeli³

et al. 2019

TERH

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Hipofiz sapı kesilme sendromu (HSKS), kesintili hipofiz sapı, ektopik arka hipofiz ve ön hipofiz hipoplazisi/aplazisi ile karakterize olup değişen derecelerde hipofiz hormon eksikliğinin eşlik ettiği doğumsal bir anormalliktir. Kesin etiyolojik neden bilinmemektedir. Ön hipofiz hormon eksikliklerine bağlı olarak, yenidoğan döneminde hipoglisemi, uzamış sarılık, inmemiş testis ve mikropenis, çocukluk döneminde ise boy kısalığı ve puberte gecikmesi ile prezente olup, tanısı radyolojik bulgulara göre konmaktadır. Bu raporda, altı ve on altı yaşlarında farklı klinik bulgularla HSKS tanısı alan iki olgu sunulmuştur.

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Pituitary Stalk Interruption Syndrome (PSIS)

Cited by 11 publications

References 8 publications

Pituitary Stalk Interruption Syndrome in Chinese People: Clinical Characteristic Analysis of 55 Cases

Pituitary Stalk Interruption Syndrome in Chinese People: Clinical Characteristic Analysis of 55 Cases

Pituitary stalk interruption syndrome presenting as short stature: a case report

Pituitary Stalk Interruption Syndrome Diagnosed with Different Clinical Findings: Report of Two Cases

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