Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

Lee, Sang Soo; Han, Aleum; Ahn, Myeong Im; Kim, Shin Hee; Cho, Won Kyung; Jung, Min Ho; Suh, Byung‐Kyu

doi:10.6065/apem.2017.22.1.55

Cited by 14 publications

(14 citation statements)

References 13 publications

(17 reference statements)

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“…Therefore, PSIS should be included in the differential diagnosis of retarded growth and delayed puberty in children[ 48 ]. However, Lee et al [ 49 ] reported a case of PSIS with multiple hormone deficiencies that did not affect growth, and the specific mechanism is still unclear. Some other atypical initial manifestations also need to be kept in mind.…”

Section: Clinical Characteristicsmentioning

confidence: 99%

Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms

Wu¹,

Li²,

Chang³

2020

WJG

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Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality characterized by thinning or disappearance of the pituitary stalk, hypoplasia of the anterior pituitary and an ectopic posterior pituitary. Although the etiology of PSIS is still unclear, gene changes and perinatal adverse events such as breech delivery may play important roles in the pathogenesis of PSIS. PSIS can cause multiple hormone deficiencies, such as growth hormone, which then cause a series of changes in the human body. On the one hand, hormone changes affect growth and development, and on the other hand, they could affect human metabolism and subsequently the liver resulting in nonalcoholic fatty liver disease (NAFLD). Under the synergistic effect of multiple mechanisms, the progression of NAFLD caused by PSIS is faster than that due to other causes. Therefore, in addition to early identification of PSIS, timely hormone replacement therapy and monitoring of relevant hormone levels, clinicians should routinely assess the liver function while managing PSIS.

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Section: Clinical Characteristicsmentioning

confidence: 99%

Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms

Wu¹,

Li²,

Chang³

2020

WJG

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“…Also, the role of hypothyroidism, hypoadrenocorticism, and hypogonadism in NAFLD could not be ruled out.In childhood, the most common manifestation of PSIS is growth retardation due to GHD. However, there have been reports of growth occurring without GH ( 10 – 12 ). This phenomenon was initially observed in patients with hypopituitarism after craniopharyngioma surgery, and the underlying mechanism remains unclear.…”

Section: Discussionmentioning

confidence: 99%

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review

Liu,

Zhao,

Cao

et al. 2023

Front. Endocrinol.

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BackgroundPituitary stalk interruption syndrome (PSIS) is a congenital disease commonly found in patients with combined pituitary hormone deficiency (CPHD). Most PSIS patients manifest growth retardation and delayed puberty. We report a rare case of PSIS with tall stature, liver cirrhosis and diabetes, possibly caused by an inactivating KCNJ11 gene mutation.Case presentationA 37-year-old female patient initially presented with liver cirrhosis and diabetes, without any secondary sexual characteristics. Endocrine investigation indicated CPHD. Small anterior pituitary, invisible pituitary stalk and no eutopic posterior lobe hypersignal in the sella turcica viewed in magnetic resonance imaging (MRI) confirmed the diagnosis of PSIS. Despite receiving no growth hormone or sex hormone therapy, she reached a final height of 186 cm. Liver histopathology revealed nonalcoholic fatty cirrhosis. Genetic testing identified a heterozygous p.Arg301Cys mutation in the KCNJ11 gene.ConclusionThis is a rare case of PSIS with liver cirrhosis and diabetes associated with an inactivating KCNJ11 gene mutation. It’s supposed that early hyperinsulinism caused by the KCNJ11 gene mutation, as well as delayed epiphyseal closure due to estrogen deficiency, contributed to the patient’s exceptionally tall stature. Untreated growth hormone deficiency (GHD) resulted in increased visceral fat, leading to nonalcoholic fatty liver disease (NAFLD) and cirrhosis. The decline in β cell function with age, combined with NAFLD, may have played a role in the development of diabetes.

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“…The phenomenon of normal growth in patients with confirmed growth hormone deficiency has been observed, although it is not fully understood. They seems to be similar to the case of a 16-year-old girl with PSIS and CPHD described by Lee et al ., who despite significant GH deficiency in the insulin test achieved the correct final height – 168 cm [ 26 ]. It is inquiring why in a patient with confirmed severe GHD periods with the inhibition of height velocity followed by a normal growth rate are observed, as in presented subjects No.1 and 11.…”

Section: Discussionmentioning

confidence: 99%

Clinical evaluation of 31 children with pituitary insufficiency in the course of the pituitary stalk interruption syndrome. The unexpected growth without growth hormone in 2 children

Chrzanowska¹,

Zubkiewicz‐Kucharska²,

Seifert³

et al. 2021

pedm

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Introduction:The pituitary stalk interruption syndrome (PSIS) is one of the complex -forms of congenital pituitary insufficiency. Symptoms resulting from insufficiency of the pituitary gland, in spite of the inborn character of the disease, may appear at various stages of life. The aim of this paper was to present clinical presentation in 31 patients with PSIS confirmed radiologically. Results: In the whole study population during first examination 25.8% children were diagnosed with combined pituitary hormone deficiency (CPHD). During the endocrinological observation (median follow-up 5.1 years, range 0.513.2) of the above-mentioned group 74.2% subjects were diagnosed with CPHD, while 25.8% patients with isolated growth hormone deficiency (GHD). Two children with initially short stature were confirmed with GHD. As a result of the parents' decision, growth hormone therapy was either not started or discontinued. During further follow-up, however, the children achieved normal height. Conclusions: Children with PSIS present a diverse clinical picture and should be observed because of the risk of further pituitary disorders. In the differential diagnosis of hypoglycemia in the neonatal period and in infancy, hypopituitarism should be considered. The phenomenon of normal growth in patients with confirmed growth hormone deficiency has been observed, although is not fully understood.

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Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

Cited by 14 publications

References 13 publications

Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms

Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review

Clinical evaluation of 31 children with pituitary insufficiency in the course of the pituitary stalk interruption syndrome. The unexpected growth without growth hormone in 2 children

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