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Journal of Pediatric Endocrinology &... May 2022Adrenal insufficiency (AI) is a life-threatening condition caused by an impaired secretion of the adrenal glucocorticoid and mineralocorticoid hormones. It comprises a...
BACKGROUND
Adrenal insufficiency (AI) is a life-threatening condition caused by an impaired secretion of the adrenal glucocorticoid and mineralocorticoid hormones. It comprises a heterogeneous group of primary, secondary and acquired disorders. Presentation differs according to the child's age, but it usually presents with nonspecific and insidious symptoms and signs. The main purpose of this study was to describe and compare patients with primary or secondary AI.
METHODS
Retrospective analysis of all patients with adrenal insufficiency followed at the Pediatric Endocrinology Unit in a tertiary care Portuguese hospital over the last 30 years. Data on family history, age at the first manifestation and at etiological diagnosis, and clinical presentation (symptoms, signs and laboratory evaluation) was gathered for all patients.
RESULTS
Twenty-eight patients with AI were included; 67.9% were male, with a median (25th-75th percentile, P25-P75) age of 1 (0.5-36) month at the first presentation. The principal diagnostic categories were panhypopituitarism (42.9%) and congenital adrenal hyperplasia (25%). The most frequent manifestations (75%) were vomiting and weight loss. They were followed for a median (P25-P75) period of 3.5 (0.6-15.5) years. In respect to neurodevelopmental delay and learning difficulties, they were more common in the secondary AI group.
CONCLUSIONS
Despite medical advances, the diagnosis and management of AI remains a challenge, particularly in the pediatric population, and clinicians must have a high index of suspicion. An early identification of AI can prevent a potential lethal outcome, which may result from severe cardiovascular and hemodynamic instability.
Topics: Adrenal Insufficiency; Child; Female; Hospitals; Humans; Hypopituitarism; Male; Portugal; Retrospective Studies
PubMed: 35357097
DOI: 10.1515/jpem-2021-0725 -
Frontiers in Endocrinology 2022Hypothalamic dysfunction (HD) results in various endocrine disorders and is associated with an increased risk of metabolic comorbidities. This study aimed to analyze the...
OBJECTIVE
Hypothalamic dysfunction (HD) results in various endocrine disorders and is associated with an increased risk of metabolic comorbidities. This study aimed to analyze the clinical characteristics and metabolic abnormalities of adults with HD of various causes.
METHODS
This study retrospectively reviewed adults with HD treated at our center between August 1989 and October 2020. Metabolic characteristics of patients were compared to those of age-, sex-matched lean, and body mass index (BMI)-matched controls.
RESULTS
Temperature dysregulation (61.0%) was the most common hypothalamic physiological dysfunction. At least one anterior pituitary hormone deficiency was observed in 50 patients (84.7%), with hypogonadotropic hypogonadism being the most frequently observed. Metabolic syndrome was confirmed in 31 patients (52.5%) and was significantly more prevalent in those with panhypopituitarism or overweight/obesity. Metabolic syndrome (MetS) was significantly more common in patients with HD than in both lean and BMI-matched controls (P < 0.001 and P = 0.030, respectively). Considering the components of MetS, elevated fasting glucose levels were significantly more common in patients with HD than in BMI-matched controls (P = 0.029). Overweight/obesity and panhypopituitarism were significant risk factors for MetS in the multivariate analysis on patients with HD. Moreover, in the multivariate analysis on patients and BMI-matched control, HD was a significant risk factor of MetS (P=0.035, OR 2.919) after adjusted for age, sex and BMI.
CONCLUSIONS
Temperature dysregulation and hypogonadotropic hypogonadism are the most common physiological and endocrine dysfunctions, respectively. MetS and unfavorable metabolic profiles were prevalent in adults with HD. HD was a significant risk factor of MetS after adjusted for BMI.
Topics: Adult; Humans; Metabolic Syndrome; Overweight; Retrospective Studies; Obesity; Hypogonadism; Comorbidity
PubMed: 36313753
DOI: 10.3389/fendo.2022.973299 -
Annales D'endocrinologie Jun 2021Besides its effects on longitudinal growth in childhood and its metabolic effects with consequences on body composition and lipid levels, growth hormone (GH) has... (Review)
Review
Besides its effects on longitudinal growth in childhood and its metabolic effects with consequences on body composition and lipid levels, growth hormone (GH) has important roles on maintaining the structure and function of the normal adult heart. GH/insulin like growth factor-I (IGF-I) also interacts with the vascular system and plays a role in the regulation of vascular tone. GH deficiency (GHD) in adulthood is associated with increased fat mass (particularly visceral) and abnormal lipid profile, which may contribute to the excess cardiovascular mortality observed in patients with panhypopituitarism. Treatment with GH improved body composition (by increasing lean mass and decreasing fat mass) and improved lipid profile. It also has beneficial effects on vascular walls. The improvement in cardiovascular morbidity and mortality induced by GH is less clear as data are scarce and obtained on small populations. The importance of alteration in cardiac morphology and function observed in GHD is debated, particularly when cardiac magnetic resonance is used rather than echocardiography. The effects of treatment with GH on heart function and morphology are modest when studied by echocardiography.
Topics: Adult; Cardiovascular Diseases; Cardiovascular System; Growth Disorders; Heart; Human Growth Hormone; Humans; Hypopituitarism; Morbidity; Risk Factors
PubMed: 32473787
DOI: 10.1016/j.ando.2020.03.005 -
Cureus May 2023Panhypopituitarism may present with symptoms of predominantly one or more hormonal deficiencies. Central hypothyroidism usually presents with typical symptoms of...
Panhypopituitarism may present with symptoms of predominantly one or more hormonal deficiencies. Central hypothyroidism usually presents with typical symptoms of hypothyroidism, such as fatigue, weight gain, menstrual abnormalities, bradycardia, thick, coarse skin, muscle fasciculations, and hyporeflexia, among others. Herein we present a case of central hypothyroidism along with panhypopituitarism presenting with unusual symptoms of tongue fasciculation, hyperreflexia, and myoclonic jerks.
PubMed: 37332415
DOI: 10.7759/cureus.39140 -
Surgical Neurology International 2021Lymphocytic hypophysitis (LH) is a rare condition that mostly affects women of the reproductive age. Because it is infrequently encountered, it is not often considered...
BACKGROUND
Lymphocytic hypophysitis (LH) is a rare condition that mostly affects women of the reproductive age. Because it is infrequently encountered, it is not often considered as a differential diagnosis of sellar masses. The diagnosis is made clinically with the aid of magnetic resonance imaging (MRI) and should be considered if the patient has endocrine derangements in addition to a sellar mass.
CASE DESCRIPTION
A 37-year-old female presents with a complaint of headaches and CT imaging showed a sellar mass. She was also being investigated simultaneously by the endocrine department and was diagnosed with panhypopituitarism. She proceeded to surgery for a presumed pituitary adenoma but histopathology returned as LH.
CONCLUSION
It is important to have a wide differential diagnosis when managing pituitary masses. Clinical correlation with atypical MRI findings is useful to determine the diagnosis of LH.
PubMed: 34221594
DOI: 10.25259/SNI_225_2021 -
Reviews in Endocrine & Metabolic... Jun 2024Hypopituitarism, or the failure to secrete hormones produced by the anterior pituitary (adenohypophysis) and/or to release hormones from the posterior pituitary... (Review)
Review
Hypopituitarism, or the failure to secrete hormones produced by the anterior pituitary (adenohypophysis) and/or to release hormones from the posterior pituitary (neurohypophysis), can be congenital or acquired. When more than one pituitary hormone axis is impaired, the condition is known as combined pituitary hormone deficiency (CPHD). The deficiency may be primarily due to a hypothalamic or to a pituitary disorder, or concomitantly both, and has a negative impact on target organ function. This review focuses on the pathophysiology, diagnosis and management of anterior pituitary hormone deficiency in the pediatric age. Congenital hypopituitarism is generally due to genetic disorders and requires early medical attention. Exposure to toxicants or intrauterine infections should also be considered as potential etiologies. The molecular mechanisms underlying the fetal development of the hypothalamus and the pituitary are well characterized, and variants in the genes involved therein may explain the pathophysiology of congenital hypopituitarism: mutations in the genes expressed in the earliest stages are usually associated with syndromic forms whereas variants in genes involved in later stages of pituitary development result in non-syndromic forms with more specific hormone deficiencies. Tumors or lesions of the (peri)sellar region, cranial radiation therapy, traumatic brain injury and, more rarely, other inflammatory or infectious lesions represent the etiologies of acquired hypopituitarism. Hormone replacement is the general strategy, with critical periods of postnatal life requiring specific attention.
Topics: Humans; Hypopituitarism; Child; Pituitary Hormones, Anterior
PubMed: 38112850
DOI: 10.1007/s11154-023-09868-4 -
American Journal of Obstetrics and... May 2021Brain death (BD) during pregnancy might justify in select cases maternal somatic support to obtain fetal viability and maximize perinatal outcome. This study is a...
OBJECTIVE
Brain death (BD) during pregnancy might justify in select cases maternal somatic support to obtain fetal viability and maximize perinatal outcome. This study is a systematic review of the literature on cases of brain death in pregnancy with attempt to prolong pregnancy to assess perinatal outcomes.
DATA SOURCES
We performed a systematic review of the literature using Ovid MEDLINE, Scopus, PubMed (including Cochrane database), and CINHAIL from inception to April 2020.
STUDY ELIGIBILITY CRITERIA
Relevant articles describing any case report of maternal brain death were identified from the aforementioned databases without any time, language, or study limitations. Studies were deemed eligible for inclusion if they described at least 1 case of maternal brain death.
METHODS
Only cases of brain death in pregnancy with maternal somatic support aimed at maximizing perinatal outcome were included. Maternal management strategy, diagnosis, clinical course, fetal monitoring, delivery, and fetal and neonatal outcome data were collected. Mean, range, standard deviation, and percentage calculations were used as applicable.
RESULTS
After exclusion, 35 cases of brain death in pregnancy were analyzed. The mean gestational age at diagnosis of brain death was at 20.2±5.3 weeks, and most cases (68%) were associated with maternal intracranial hemorrhage, subarachnoid hemorrhage, and hematoma. The most common maternal complications during the study were infections (69%) (eg, pneumonia, urinary tract infection, sepsis), circulatory instability (63%), diabetes insipidus (56%), thermal variability (41%), and panhypopituitarism (34%). The most common indications for delivery were maternal cardiocirculatory instability (38%) and nonreassuring fetal testing (35%). The mean gestational age at delivery was 27.2±4.7 weeks and differed depending on the gestational age at diagnosis of brain death. Most deliveries (89%) were via cesarean delivery. There were 8 cases (23%) of intrauterine fetal demise in the second trimester of pregnancy (14-25 weeks), and 27 neonates (77%) were born alive. Of the 35 cases of brain in pregnancy, 8 neonates (23%) were described as "healthy" at birth, 15 neonates (43%) had normal longer-term follow-up (>1 month to 8 years; mean, 20.3 months), 2 neonates (6%) had neurologic sequelae (born at 23 and 24 weeks of gestation), and 2 neonates (6%) died (born at 25 and 27 weeks of gestation). Mean birth weight was 1,229 grams, and small for gestational age was present in 17% of neonates. The rate of live birth differed by gestational age at diagnosis of brain death: 50% at <14 weeks, 54.5% at 14 to 19 6/7 weeks, 91.7% at 20 to 23 6/7 weeks, 100% at 24 to 27 6/7 weeks, and 100% at 28 to 31 6/7 weeks.
CONCLUSION
In 35 cases of brain death in pregnancy at a mean gestation age of 20 weeks, maternal somatic support aimed at maximizing perinatal outcome lasted for about 7 weeks, with 77% of neonates being born alive and 85% of these infants having a normal outcome at 20 months of life. The data of this study will be helpful in counseling families and practitioners faced with such rare and complex cases.
Topics: Apgar Score; Brain Death; Female; Fetal Death; Fetal Monitoring; Gestational Age; Humans; Infant; Infant, Newborn; Infant, Small for Gestational Age; Life Support Care; Live Birth; Nervous System Diseases; Perinatal Death; Pregnancy; Pregnancy Complications; Pregnancy Maintenance; Premature Birth
PubMed: 33600780
DOI: 10.1016/j.ajog.2021.01.033 -
Journal of Medical Case Reports Nov 2019Pituitary abscess is a rare condition with nonspecific symptoms that can be delayed. Proper diagnosis needs to occur preoperatively so that the management can be set up...
BACKGROUND
Pituitary abscess is a rare condition with nonspecific symptoms that can be delayed. Proper diagnosis needs to occur preoperatively so that the management can be set up accordingly. Accurate diagnosis is challenging because many differential diagnoses can exhibit the same magnetic resonance imaging features.
CASE PRESENTATION
We report two cases of pituitary abscess. The first patient was a 66-year-old Arab woman who underwent a surgical procedure for a pituitary macroadenoma and presented 3 months later with chronic headaches and panhypopituitarism. A pituitary abscess was found on the follow-up magnetic resonance imaging. The second patient was a 64-year-old Arab man with no medical history who presented with a chiasmal syndrome with headaches and panhypopituitarism. Brain magnetic resonance imaging showed a heterogeneous pituitary mass that turned out to be a pituitary abscess intraoperatively. These two patients were treated with hormone substitution, endoscopic transsphenoidal drainage, and antibiotherapy, with excellent outcomes.
CONCLUSIONS
Pituitary abscess is a rare and serious condition. Preoperative diagnosis can be challenging because of the many existing differential diagnoses upon imaging. Magnetic resonance imaging is the mainstay technique of imaging due to its multimodal nature. These cases demonstrate the variable patterns of a pituitary abscess seen on magnetic resonance imaging and the potential difficulties in achieving an accurate diagnosis preoperatively due to many other conditions potentially exhibiting the same magnetic resonance imaging features.
Topics: Abscess; Aged; Anti-Bacterial Agents; Combined Modality Therapy; Decompression, Surgical; Drainage; Endoscopy; Female; Headache; Hormone Replacement Therapy; Humans; Magnetic Resonance Imaging; Male; Pituitary Diseases; Treatment Outcome
PubMed: 31759391
DOI: 10.1186/s13256-019-2280-8 -
Journal of Neurosurgery Jun 2020Pituitary adenoma (PA) consistency, or texture, is an important intraoperative characteristic that may dictate operative dissection techniques and/or instruments used...
OBJECTIVE
Pituitary adenoma (PA) consistency, or texture, is an important intraoperative characteristic that may dictate operative dissection techniques and/or instruments used for tumor removal during endoscopic endonasal approaches (EEAs). The impact of PA consistency on surgical outcomes has yet to be elucidated.
METHODS
The authors developed an objective 5-point grading scale for PA consistency based on intraoperative characteristics, including ease of tumor debulking, manipulation, and instrument selection, ranging from cystic/hemorrhagic tumors (grade 1) to calcified tumors (grade 5). The proposed grading system was prospectively assessed in 306 consecutive patients who underwent an EEA for PAs, and who were subsequently analyzed for associations with surgical outcomes, including extent of resection (EOR) and complication profiles.
RESULTS
Institutional database review identified 306 patients who underwent intraoperative assessment of PA consistency, of which 96% were macroadenomas, 70% had suprasellar extension, and 44% had cavernous sinus invasion (CSI). There were 214 (69.9%) nonfunctional PAs and 92 functional PAs (31.1%). Distribution of scores included 15 grade 1 tumors (4.9%), 112 grade 2 tumors (36.6%), 125 grade 3 tumors (40.8%), 52 grade 4 tumors (17%), and 2 grade 5 tumors (0.7%). Compared to grade 1/2 and grade 3 PAs, grade 4/5 PAs were significantly larger (22.5 vs 26.6 vs 27.4 mm, p < 0.01), more likely to exhibit CSI (39% vs 42% vs 59%, p < 0.05), and trended toward nonfunctionality (67% vs 68% vs 82%, p = 0.086). Although there was no association between PA consistency and preoperative headaches or visual dysfunction, grade 4/5 PAs trended toward preoperative (p = 0.058) and postoperative panhypopituitarism (p = 0.066). Patients with preoperative visual dysfunction experienced greater improvement if they had a grade 1/2 PA (p < 0.05). Intraoperative CSF leaks were noted in 32% of cases and were more common with higher-consistency-grade tumors (p = 0.048), although this difference did not translate to postoperative CSF leaks. Gross-total resection (%) was more likely with lower PA consistency score as follows: grade 1/2 (60%), grade 3 (50%), grade 4/5 (44%; p = 0.045). Extracapsular techniques were almost exclusively performed in grade 4/5 PAs. Assignment of scores showed low variance and high reproducibility, with an intraclass correlation coefficient of 0.905 (95% CI 0.815-0.958), indicating excellent interrater reliability.
CONCLUSIONS
These findings demonstrate clinical validity of the proposed intraoperative grading scale with respect to PA subtype, neuroimaging features, EOR, and endocrine complications. Future studies will assess the relation of PA consistency to preoperative MRI findings to accurately predict consistency, thereby allowing the surgeon to tailor the exposure and prepare for varying resection strategies.
Topics: Adenoma; Adolescent; Adult; Aged; Aged, 80 and over; Cavernous Sinus; Female; Humans; Male; Middle Aged; Neoplasm Grading; Neoplasm Invasiveness; Pituitary Neoplasms; Prospective Studies; Reproducibility of Results; Retrospective Studies; Young Adult
PubMed: 32503003
DOI: 10.3171/2020.4.JNS193288 -
European Journal of Endocrinology Nov 2019Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the... (Review)
Review
Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It is heterogeneous regarding clinical, biological and radiological presentation and is characterized by the following triad: thin (<1 mm) or interrupted pituitary stalk connecting the hypothalamus to the pituitary gland, no eutopic posterior lobe, and hypoplasia or aplasia of the anterior lobe. This review reports current knowledge about the composite pathogenesis, for which underlying mechanisms remain unclear. Current data suggest genetic origins involving early developmental gene mutations with complex inheritance patterns and environmental influence, placing PSIS at the crossroads between Mendelian and multifactorial diseases. The phenotype associated with PSIS is highly heterogeneous with a high incidence of various combinations of hormonal deficiencies, sometimes associated with extra-pituitary birth defects. The age at onset is variable, but typical presentation is evolutive combined anterior pituitary hormone deficiencies at pediatric age, which progress even during adulthood to panhypopituitarism. Therefore, patients' follow-up throughout life is essential for adequate management.
Topics: Humans; Hypopituitarism; Phenotype; Pituitary Diseases; Pituitary Gland; Syndrome
PubMed: 31480013
DOI: 10.1530/EJE-19-0168