growth hormone deficiency, hypopituitarism

The growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis plays a crucial role in maintaining the normal function of the cardiovascular system. Results of the last decades demonstrated that GH-IGF-1 takes part in regulating peripheral resistance and contributes to preserving physiological cardiac mass and left ventricular function. Vasculoprotective functions of the GH-IGF-1 axis are believed to counteract atherosclerosis. Unlike in childhood, when GH-deficiency results in growth retardation, GH deficiency does not cause specific symptoms in adults...

BACKGROUND: Although it is generally thought that disturbance of perfusion in the anterior lobe of the pituitary gland leads to complete or partial hypopituitarism, the gadolinium (Gd) enhancement findings on Magnetic Resonance Imaging (MRI) of patients with growth hormone deficiency (GHD) remain unknown. The purpose of this study was to compare Gd enhancement of the pituitary gland on MRI of patients with GHD to that of healthy subjects. METHODS: In this retrospective study, we analyzed the data of 10 patients with clinically diagnosed GHD who underwent Gd-enhanced MRI of their pituitaries (age 8...

OBJECTIVE: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. MATERIALS AND METHODS: This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing...

Growth hormone (GH) deficiency (GHD) is one of the most prevalent deficiencies in patients with hypopituitarism and several cohort studies have demonstrated an increased mortality risk in hypopituitary patients with a presumed GHD. The cause of the excess mortality is most likely multifactorial, including the etiology of the hypopituitarism, non-physiological replacement therapies (mostly glucocorticoid), tumor treatment and its side effects as well as untreated GHD. Several years later, other cohort studies that investigated life expectancy in patients with hypopituitarism on GH replacement therapy (GHRT) that showed a normalized mortality...

PURPOSE: Pediatric pituitary adenomas (PPA) are rare. Although PPAs are mostly benign, they can be challenging to manage. Most studies evaluating PPA are based on surgical series. We aimed to present the clinical features, hormonal status and treatment outcomes of children with PPA managed in a joint neuroendocrine setting. METHODS: In this single-center study, demographic, clinical and endocrinological data of patients under 19 years old who were followed up with the diagnosis of PPA between 2002-2022 were retrospectively reviewed...

OBJECTIVE: Pituitary stalk abnormalities are one of the causes of hypopituitarism. Isolated pituitary stalk duplication with a single pituitary gland is extremely rare with only a few cases reported to date. The present case has a different clinical picture as compared to the cases that were previously reported in the literature. CASE REPORT: A 2 years 6-month-old male child, a product of nonconsanguineous marriage, presented with short stature, micropenis with unilateral undescended testis, and delayed motor milestones...

BACKGROUND: Growth hormone deficiency (GHD) has been implicated in increased cardiovascular and cerebrovascular disease risk seen in hypopituitarism, however the mechanism remains speculative. We hypothesise that platelet abnormalities may play a contributory role. Herein we examined platelet behaviour in GHD hypopituitary patients, pre- and post-growth hormone (GH) replacement. METHODS: This study utilizes a physiological flow-based assay to quantify platelet function in whole blood from patient cohorts under arterial shear...

KEY CLINICAL MESSAGE: Pituitary stalk interruption syndrome (PSIS) is an antenatal anatomical defect characterized by pituitary insufficiency with symptomatology depending on associated hormonal deficits. Diagnosis is often delayed because many clinical findings. The gold standard for detection is pituitary MRI showing absence of pituitary stalk, anterior pituitary hypoplasia, and postpituitary ectopy. The treatment remains polyhormonal substitution. ABSTRACT: Pituitary stalk interruption syndrome (PSIS) is an antenatal anatomical defect...

Acromegaly is a rare disease with prevalence of approximately 60 cases per million, slight female predominance and peak onset in adults in the fourth decade. Clinical diagnosis is often delayed by several years due to the slowly progressive onset of symptoms. There are multiple clinical criteria that define acromegaly: dysmorphic syndrome of insidious onset, symptoms related to the pituitary tumor (headaches, visual disorders), general signs (sweating, carpal tunnel syndrome, joint pain, etc.), complications of the disease (musculoskeletal, cardiovascular, pneumological, dental, metabolic comorbidities, thyroid nodules, colonic polyps, etc...

The combined pituitary function test evaluates the anterior pituitary gland, while the insulin tolerance test evaluates growth hormone deficiencies. However, successful stimulation requires achieving an appropriate level of hypoglycemia. Close medical supervision for glucose monitoring is required during hypoglycemia induction and the test is often very tedious. In addition, a capillary blood sugar test (BST) and serum glucose levels may differ greatly. An alternative approach may be utilizing a continuous glucose-monitoring (CGM) system...

BACKGROUND: With the increasing use of magnetic resonance imaging (MRI) in the evaluation of children with endocrine disorders, pituitary stalk thickening (PST) poses a clinical conundrum due to the potential for underlying neoplasms and challenges in obtaining a tissue biopsy. The existing literature suggests Langerhans cell histiocytosis (LCH) to be the commonest (16%) oncologic cause for PST, followed by germ cell tumors (GCTs, 13%) (CCLG 2021). As the cancer epidemiology varies according to ethnicity, we present herein the incidence and predictors for oncologic etiologies in Hong Kong Chinese children with PST...

INTRODUCTION: Pathogenic biallelic RNPC3 variants cause congenital hypopituitarism (CH) with congenital cataracts, neuropathy, developmental delay/intellectual disability, primary ovarian insufficiency, and pituitary hypoplasia. Here, we aimed to evaluate the clinical and molecular characteristics of two patients with CH and neuropathy. MATERIAL AND METHODS: Proband was evaluated by clinical, laboratory, and radiological exams followed by exome sequencing (ES). Clinical investigation of an affected sibling and variant segregation in the family was performed by Sanger sequencing...

Hypopituitarism is characterized by an underactive pituitary gland and may result in growth hormone deficiency, hypothyroidism, testosterone deficiency, and/or adrenal insufficiency. Traumatic brain injury (TBI) exposure is a known risk factor for hypopituitarism. However, patients with hypopituitarism secondary to TBI exposure may go undiagnosed because the signs and symptoms of hypopituitarism can be subtle. This case report describes a 40-year-old male US military veteran who endorsed fatigue, sexual dysfunction, and weight gain several years after experiencing multiple mild TBIs during his military service...

Hypoglycemia is concerning for neurological complications in infants and children. Determining the cause of hypoglycemia is essential in providing appropriate treatment. Hyperinsulinism and growth hormone deficiency are known causes of hypoglycemia but are not commonly found together. We report a 4-month-old boy who presented with severe hypoglycemia and was found to have both hyperinsulinism and growth hormone deficiency. Treatment with both recombinant human growth hormone and diazoxide led to blood glucose normalization...

Congenital growth hormone deficiency (GHD) is a rare disease caused by disorders affecting the morphogenesis and function of the pituitary gland. It is sometimes found in isolation but is more frequently associated with multiple pituitary hormone deficiency. In some cases, GHD may have a genetic basis. The many clinical signs and symptoms include hypoglycaemia, neonatal cholestasis and micropenis. Diagnosis should be made by laboratory analyses of the growth hormone and other pituitary hormones, rather than by cranial imaging with magnetic resonance imaging...

OBJECTIVE: Traumatic brain injury (TBI), a common cause of adult growth hormone deficiency (AGHD), affects 20% of Veterans returning from Iraq and Afghanistan (OEF/OIF/OND). Growth hormone replacement therapy (GHRT) improves quality of life (QoL) in AGHD but remains unexplored in this population. This pilot, observational study investigates the feasibility and efficacy of GHRT in AGHD following TBI. DESIGN: In this 6-month study of combat Veterans with AGHD and TBI starting GHRT (N = 7), feasibility (completion rate and rhGH adherence) and efficacy (improvements in self-reported QoL) of GHRT were measured (primary outcomes)...

BACKGROUND: Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies. A majority of patients with CHARGE syndrome present with congenital hypogonadotropic hypogonadism (HH), and combined pituitary hormone deficiency (CPHD) can also be present. Whereas CHD7 mutations have been identified in some patients with isolated HH without a diagnosis of CHARGE syndrome, it remains unclear whether CHD7 mutations can be identified in patients with CPHD who do not fulfill the criteria for CHARGE syndrome...

PURPOSE: Transsphenoidal surgery for non-functioning pituitary adenomas (NFPAs) can alter pituitary function. We assessed the rates of improvement and deterioration of pituitary function by axis and searched for predictive factors of these outcomes. METHODS: We reviewed consecutive medical files from patients having had transsphenoidal surgery for NFPA between 2004 and 2018. Pituitary functions and MRI imaging were analyzed prior and after surgery. The occurrence of recovery and new deficit were documented per axis...

Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder that affects 6-7 per 100,000 populations, and pituitary stalk interruption syndrome (PSIS) is a rare congenital defect with varying degrees of pituitary hormone deficiency, affecting approximately 0.5 in every 100,000 births. Currently, only two cases of these complications have been reported. A 46-year-old male who had experienced more than 20 fractures (peripheral and vertebral) during adolescence visited our hospital for close examination...

PURPOSE OF REVIEW: This article reviews hypopituitarism after TBI, the importance of pituitary hormones, and related controversies, concluding with a suggested patient approach. RECENT FINDINGS: While earlier studies focused on increased pituitary deficiencies after moderate-severe TBI, recent studies have focused on deficiencies after mild TBI. There has been increasing focus on the role of growth hormone after injury; growth hormone is the most frequent reported deficiency at 1 year post-TBI, and an area with unresolved questions...