Diversity of Pathological Conditions Affecting Pituitary Stalk

Kluczyński, Łukasz; Godlewska, Magdalena; Wójcik, Małgorzata; Zygmunt-Górska, Agata; Starzyk, Jerzy; Hubalewska‐Dydejczyk, Alicja

doi:10.3390/jcm10081692

Cited by 8 publications

(7 citation statements)

References 42 publications

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“…Depending on the cause of the disorder and the age of the patient, the symptoms of CPHD may have different clinical presentations, indications, and symptoms. In the neonatal period and in early infancy, the most characteristic signs include hypoglycemia, prolonged jaundice, and features of hypogonadism in boys (cryptorchidism, reduced testicle volume, and penile underdevelopment) [ 8 , 9 ]. At preschool or school age, a decrease of growth velocity and short stature dominates.…”

Section: Introductionmentioning

confidence: 99%

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins

Zygmunt-Górska,

Wójcik,

Gilis-Januszewska

et al. 2023

Hormones

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The most commonly identified genetic cause of combined pituitary hormone deficiency (CPHD) is PROP1 gene mutations. The aim of the study was to compare selected clinical features of patients with CPHD caused by variants of the PROP1 gene (CPHD-PROP1) and patients with inborn CPHD of other etiology (CPHD-nonPROP1). Material and methods The retrospective analysis included childhood medical records of 74 patients (32 female) with CPHD, including 43 patients (23 female) with the mutation in the PROP1 gene. Results Patients with CPHD-PROP1 compared to the CPHD-nonPROP1 presented with the following: significantly higher median birth weight (0.21 vs. − 0.29 SDS, p = 0.019), lower growth velocity within 3 years preceding growth hormone administration (− 2.7 vs. − 0.8 SDS, p < 0.001), higher mean maximal blood concentration of growth hormone within the stimulation process (1.2 vs. 1.08 ng/mL, p = 0.003), lower TSH (1.8 vs. 2.4 µIU/mL, p < 0.001), significantly lower prolactin concentrations (128 vs. 416.3 µIU/mL, p < 0.001), and less frequent typical signs of hypogonadism at birth in boys (n = 6; 30% vs. n = 12, 54%, p < 0.001). Secondary adrenal insufficiency was less frequent in CPHD-PROP1 (20 vs. 25 cases, p = 0.006) and occurred at a later age (13.4 vs. 10.4 years). MRI of the pituitary gland in CPHD-PROP1 revealed a small pituitary gland (21 cases), pituitary gland enlargement (eight cases), and one pituitary stalk interruption and posterior lobe ectopy, while it was normal in nine cases. Conclusion Patients with the PROP1 mutations present a clinical picture significantly different from that of other forms of congenital hypopituitarism. Certain specific clinical results may lead to the successful identification of children requiring diagnostics for the PROP1 gene mutation.

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Section: Introductionmentioning

confidence: 99%

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins

Zygmunt-Górska,

Wójcik,

Gilis-Januszewska

et al. 2023

Hormones

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“…However, the clinical course of patients having pituitary stalk lesions varies from no symptoms to an increase or loss of pituitary function [ 20 ]. Kluczyński et al [ 21 ] reported that among 60 adult patients with pituitary stalk lesions, 5 cases (8.3%) had a clinical presentation of excessive hormone production. However, no PP was observed because the recruited subjects were adults with a mean of 33.8 years.…”

Section: Discussionmentioning

confidence: 99%

Pathological brain lesions in girls with central precocious puberty at initial diagnosis in Southern Vietnam

Huynh

et al. 2022

Ann Pediatr Endocrinol Metab

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Purpose: Cranial magnetic resonance imaging (MRI) is recommended to identify intracranial lesions in girls with central precocious puberty (CPP). Yet, the use of routine MRI scans in girls with CPP is still debatable, as pathological findings in girls 6 years of age or older with CPP are limited. Therefore, we aimed to identify the prevalence of brain lessons in CPP patients stratified by age group (0–2, 2–6, and 6–8 years).Methods: This retrospective cross-sectional study recruited 257 girls diagnosed with CPP for 6 years (2010–2016). MRI was used to detect brain abnormalities. Levels of luteinizing hormone, follicle-stimulating hormone, and sex hormones in blood samples were measured.Results: Most girls had no brain lesions (82.9%, n=213), and of the minor proportion of girls with CPP that exhibited brain lesions (17.1%, n=44), 32 girls had organic CPP. Pathological findings were detected in 33.3% (2 of 6) of girls aged 0–2 years, 15.6% (5 of 32) of girls aged 2–6 years, and 3.6% (8 of 219) of girls aged 6–8 years. Hypothalamic hamartoma and tumors in the pituitary stalk were the most common pathological findings. The likelihood of brain lesions decreased with age. Girls with organic CPP were more likely to be younger (6.1±2.4 vs. 7.3±1.3 years, p<0.01) than girls with idiopathic CPP.Conclusion: Older girls appeared to have a lower prevalence of organic CPP. Clinicians should cautiously use cranial MRI for girls aged 6–8 years with CPP.

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“…Seventeen per cent of patients were diagnosed with concomitant metastases to other central nervous system structures [1]. Stalk involvement was mentioned in 4 reports and one study of 60 consecutive patients with stalk lesions, where, among the whole group, one patient presented NET metastasis to the infundibulum [4]. In a recent literature analysis including 43 patients with PM from NETs, 73% of patients presented with at least one anterior pituitary hormone deficit (gonadal axis insufficiency was the most common).…”

Section: Clinical Vignettementioning

confidence: 99%