Hypoglycemia and jaundice in newborns with pituitary stalk interruption syndrome

Abstract

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.

Are androstenedione, dihydrotestosterone, thyroid‐stimulating hormone, insulin‐like growth factor I, and insulin‐like growth factor binding protein 3 necessary for isolated micropenis healthy boys' evaluation without any phenotypic abnormalities? A cross‐sectional study

“…Hypoglycemia, jaundice, short stature, and central obesity were the most clinical findings in these boys with a micropenis (Wang et al, 2021). Our study showed that thyrotropin was normal in boys without these clinical features.…”

“…The most hormonal abnormalities in children with hypopituitarism were hypothyroidism (54%) and growth hormone disturbance (56%). Hypoglycemia, jaundice, short stature, and central obesity were the most clinical findings in these boys with a micropenis (Wang et al, 2021). Our study showed that thyrotropin was normal in boys without these clinical features.…”

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

“…Some of the diseases in the group of metabolic disorders as well as the cardiovascular and chromosomal disorders are known to have malformations related to the disease aetiology regardless of the presence of cholestasis. [76][77][78][79][80][81][82][83][84][85][86][87][88][89][90][91][92][93] The details can be seen in Table 2B and Table S5.…”

Clinical Features and Analysis in Pituitary Stalk Interruption Syndrome

“…Clinical manifestations vary based on the extent of pituitary stalk damage, primarily determined by the type and degree of hormone defciency. Symptoms may include growth retardation, hypogonadotropic hypogonadism, hypoglycemia, hyponatremia, and central hypothyroidism [4,5]. Most patients seek medical attention for growth retardation and hypogonadotropic hypogonadism, but some of them do not exhibit short stature [4,[6][7][8].…”