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Correlation between bone age/delayed bone age and final height. (a) Correlation between bone age and final height. (b) Correlation between delayed bone age and height gain.
Source publication
Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history wer...
Citations
... First reported case of PSIS was in 1987 by Fujisawa et al. [5]. While the etiology and pathogenesis of PSIS are not yet fully understood, high association with birth trauma leading to perinatal pituitary injury has been reported, considering breech or footling presentation, dystocia and cesarean section [3,4,6]. In addition, abnormal early pituitary development caused by various genetic mutations has been reported in less than 5% of cases [1,7,8]. ...
Background
Pituitary stalk interruption syndrome is a rare congenital pituitary anatomical defect manifested with wide and various clinical presentations. Short stature and delayed puberty are present in most cases and may be combined with extra pituitary malformations. Magnetic resonance imaging is considered the key factor for reaching the definite diagnosis as it reveals the different radiological presentations of this syndrome.
Case presentation
A 17-year-old male patient from Jordan was presented to the radiology department for pituitary MRI. The patient presents with multiple pituitary hormonal deficiency, short stature, and under-developed secondary sexual characteristics. The bone age of the patient was significantly less than the chronological age. MRI pituitary gland showed hypoplasia of the anterior pituitary, absence of the pituitary stalk and ectopic posterior pituitary gland located posterior to the optic chiasm. These findings were consistent with pituitary stalk interruption syndrome.
Conclusions
Considering uncommon incidence of pituitary stalk interruption syndrome, magnetic resonance imaging of the pituitary should be considered while examining a patient with pituitary deficiency for prompt diagnosis and treatment. Hormone replacement medication is the primary treatment for pituitary stalk interruption syndrome and should be started as soon as feasible. Thus, early diagnosis and monitoring of individuals are crucial.
... Growth responds especially well to GH (0.1-0.2 U/kg/d) therapy, in particular during the first year. [28,29] The dose of recombinant human GH was 0.16 to 0.24 mg/kg/qw. [3] Hydrocortisone was 8 to 12 mg/m 2 /d, and levothyroxine dose is similar to that used in congenital primary hypothyroidism. ...
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.
... An increase of CD36 is associated with insulin resistance and hepatic steatosis [119] . It has been found that knockout of the PRL receptor in the mouse liver can increase the accumulation of triglycerides in the liver [120] . Therefore, a change of PRL may play a role in the development of NAFLD in patients with PSIS. ...
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.
... Moreover, hormonal evaluations should be performed regularly as hormonal deficiencies are worsened in patients with PSIS. 3 A written informed consent was given by the patient's father. Figure 1: A & B) Sagittal T1-weighted images with and without contrast injection through the sella demonstrate loss of the normal bright spot of the neurohypophysis and an absent pituitary stalk. ...
... Recombinant human growth hormone (rhGH) is also used in treatment of several diseases in children including growth hormone deficiency, small for gestational age children, idiopathic short stature, [1,[9][10][11] and EP children. ...
Background:
Early puberty (EP) is due to the activation of gonadotropin-releasing hormone (GnRH) pulse generator in lower ages; EP may be a potential cause for impairment of adult height, leading to short stature. The aim of this study was to determine the effects of GnRH analog (GnRHa) and GnRHa plus recombinant human growth hormone (rhGH) treatment on final height in healthy girls with EP.
Materials and methods:
Fifty EP girls (sexual maturity rating: 2-3) with chronological age (CA) 9.22 ± 0.56 and bone age (BA) 9.74 ± 0.59 years were treated with GnRHa (Triptorelin) at a dose of 100 μg/kg body weight (BW) as intramuscular every 28 days for 2.82 ± 0.57 years; 45 EP girls with CA 9.84 ± 0.57 and BA 10.14 ± 1.02 years were also treated with the same GnRHa plus rhGH (Norditropin) at a dose of 0.1 unit/kg BW daily for 6 days in a week for 2.55 ± 0.6 years. In the control group, 33 EP girls followed for the same period without treatment. Height, weight, and body mass index of girls and parents were assessed. Predicted adult height (PAH) at the start and the end of the study and target height were assessed.
Results:
PAH at the end of the study in the GnRHa group was not different with untreated girls. PAH at the end of the treatment in GnRHa plus rhGH group was significantly higher than both untreated and GnRHa group. PAH at the end of therapy in GnRHa plus rhGH group was significantly more than their target height.
Conclusion:
GnRHa therapy has a benefit effect in achievement of target height. Combination therapy with GnRHa plus rhGH increased their PAH more than both untreated and GnRHa groups.
Objective:
Pituitary stalk interruption syndrome (PSIS) is a rare congenital disease which results in hypopituitarism. Patients with PSIS often exhibit short stature due to their deficiency of growth hormone (GH).
Case presentation:
Here, we present two rare cases of adults males with PSIS, in which the patients were of normal height and did not take any GH supplements. Sterility and multiple hormone deficiencies including GH were seen in both of them. Through whole exome sequencing of their DNA, we found novel mutations they shared, three in MUC4 (c.7815G>T, c.3548C>T, c.3399C>G) and one in NBPF10 (c.536C>A).
Conclusion:
The present cases suggest that there are exceptions in GH deficient patients where a select few can attain normal heights without GH therapy. Genetic screening can be a predictor for prognoses of rare types of hypopituitarism.
The piezoelectric sensor is the best choice for large industrial installations for instantaneous monitoring and premature fault diagnosis of electromechanical systems. In this work, we made a study on the piezoelectric detection and the piezoelectric sensor then a model of the physical behavior of this sensor extracted. The developed model of measurement accuracy as a function of the relative vibration movement is validated by experimental tests and simulation. The good choice of the damping rate allowed to improve the parameters of the sensor on the one hand and to advance the technique of vibratory analysis on the other hand.
