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Pediatric Research May 2022Despite optimized nutrition, preterm-born infants grow slowly and tend to over-accrete body fat. We hypothesize that the premature dissociation of the... (Review)
Review
Despite optimized nutrition, preterm-born infants grow slowly and tend to over-accrete body fat. We hypothesize that the premature dissociation of the maternal-placental-fetal unit disrupts the maintenance of physiological endocrine function in the fetus, which has severe consequences for postnatal development. This review highlights the endocrine interactions of the maternal-placental-fetal unit and the early perinatal period in both preterm and term infants. We report on hormonal levels (including tissue, thyroid, adrenal, pancreatic, pituitary, and placental hormones) and nutritional supply and their impact on infant body composition. The data suggest that the premature dissociation of the maternal-placental-fetal unit leads to a clinical picture similar to panhypopituitarism. Further, we describe how the premature withdrawal of the maternal-placental unit, neonatal morbidities, and perinatal stress can cause differences in the levels of growth-promoting hormones, particularly insulin-like growth factors (IGF). In combination with the endocrine disruption that occurs following dissociation of the maternal-placental-fetal unit, the premature adaptation to the extrauterine environment leads to early and fast accretion of fat mass in an immature body. In addition, we report on interventional studies that have aimed to compensate for hormonal deficiencies in infants born preterm through IGF therapy, resulting in improved neonatal morbidity and growth. IMPACT: Preterm birth prematurely dissociates the maternal-placental-fetal unit and disrupts the metabolic-endocrine maintenance of the immature fetus with serious consequences for growth, body composition, and neonatal outcomes. The preterm metabolic-endocrine disruption induces symptoms resembling anterior pituitary failure (panhypopituitarism) with low levels of IGF-1, excessive postnatal fat mass accretion, poor longitudinal growth, and failure to thrive. Appropriate gestational age-adapted nutrition alone seems insufficient for the achievement of optimal growth of preterm infants. Preliminary results from interventional studies show promising effects of early IGF-1 supplementation on postnatal development and neonatal outcomes.
Topics: Body Composition; Female; Humans; Hypopituitarism; Infant; Infant, Newborn; Infant, Premature; Insulin-Like Growth Factor I; Placenta; Pregnancy; Premature Birth
PubMed: 34040160
DOI: 10.1038/s41390-021-01566-8 -
Endocrinology, Diabetes & Metabolism... Dec 2021A 17-year-old lady presented with primary amenorrhoea, headache, nausea and lethargy. She had delayed pubertal development that also includes under-developed breast...
SUMMARY
A 17-year-old lady presented with primary amenorrhoea, headache, nausea and lethargy. She had delayed pubertal development that also includes under-developed breast (Tanner Stage 2). Hormonal investigations showed a high serum prolactin level of 1 680 000 mIU/L (normal value: 45-375 mIU/L), with low oestradiol, progesterone, follicular-stimulating hormone and luteinizing hormone. Early morning cortisol level was 206 nmol/L (normal value: >450 nmol/L), thyroxine was 7.5 pmol/L (normal value: 9.0-24.0 pmol/L) with TSH 5.091 mIU/L (normal value: 0.4-4.5 mlU/L). A pituitary MRI showed a 2.7 (AP) × 3.7 (W) × 4.6 cm (CC) macroadenoma, with invasion into the left cavernous sinus and encasement of cavernous portion of the left internal carotid artery. MRI pelvis showed absent uterus, cervix and 2/3 upper vagina confirming Mullerian hypoplasia. Cytogenetics showed 46XX. These findings were suggestive of Mayer-Rokitansky-Kauser-Hauser (MRKH) syndrome with the presence of a pituitary macroprolactinoma and panhypopituitarism. She was treated with hydrocortisone, levothyroxine and cabergoline. Repeated MRI showed a reduction in tumour size by approximately 50%. This case illustrated a rare coexistence of these two conditions, being only the third reported case in the world. In addition, this would be the first case of a functioning pituitary adenoma in a patient with MRKH syndrome.
LEARNING POINTS
Comprehensive hormonal and radiological investigations are important in the management of a young patient with primary amenorrhoea. Coexistence pathology of two separate pathologies should be considered in patient presenting with primary amenorrhoea. Early diagnosis of MRKH or any disorders of sex development should be treated early, providing pharmacological, surgical, psychological and emotional support to the patient and reducing risk of associated complications. Abnormal pituitary hormones, particularly panhypopituitarism, would impose greater impact not only psychologically but also metabolically leading to cardiovascular, morbidity and mortality risks in this patient if not treated early. A multidisciplinary approach is necessary for patients presenting with MRKH to ensure appropriate treatments and follow-up across the lifespan of the patient.
PubMed: 34889204
DOI: 10.1530/EDM-21-0105 -
BMC Endocrine Disorders Oct 2019Pituitary metastasis is a rare condition with a poor prognosis. Very few patients with pituitary metastasis are symptomatic. It is often associated with presence of... (Review)
Review
BACKGROUND
Pituitary metastasis is a rare condition with a poor prognosis. Very few patients with pituitary metastasis are symptomatic. It is often associated with presence of co-existing metastases to other organs. Isolated pituitary metastasis as the first presentation of primary malignancy is uncommon.
CASE PRESENTATION
A 72-year-old woman presented with a 2-month history of polyuria, increasing thirst and unexplained weight loss. Esophagogastroduodenoscopy (EGD) was scheduled as part of the investigation. She was kept nil per os for 10 h prior to EGD, after which she developed alteration of consciousness. Further investigation revealed hypernatremia with sodium level of 161 mmol/L and low urine osmolality of 62 mOsm/kg. Her urine output was 300 mL per hour. Diabetes insipidus (DI) was diagnosed based on evidence of polyuria, hypernatremia, and low urine osmolality. Her urine output decreased and urine osmolality increased to 570 mOsm/kg in response to subcutaneous desmopressin acetate, confirming central DI. Pituitary magnetic resonance imaging showed a heterogeneous gadolinium enhancing lesion at the sellar and suprasellar regions, measuring 2.4 × 2.6 × 3.9 cm compressing both the hypothalamus bilaterally and the inferior aspect of optic chiasm as well as displacing the residual pituitary gland anteriorly. The posterior pituitary bright spot was absent. These MRI findings suggested pituitary macroadenoma. There were also multiple small gadolinium-enhancing lesions up to 0.7 cm in size with adjacent vasogenic brain edema at the subcortical and subpial regions of the left frontal and parietal areas, raising the concern of brain metastases. Pituitary hormonal evaluation was consistent with panhypopituitarism. Histopathological and immunohistochemical studies of the pituitary tissue revealed an adenocarcinoma, originating from the lung. Computed tomography of the chest and abdomen was subsequently performed, showing a 2.2-cm soft tissue mass at the proximal part of right bronchus. There was no evidence of distant metastases elsewhere. The final diagnosis was adenocarcinoma of the lung with pituitary metastasis manifesting as panhypopituitarism and central DI. Palliative care along with hormonal replacement therapy was offered to the patient. She died 4 months after diagnosis.
CONCLUSION
Diagnosis of pituitary metastasis is challenging, especially in patients with previously undiagnosed primary cancer. It should be considered in the elderly patients presenting with new-onset central DI with or without anterior pituitary dysfunction.
Topics: Adenocarcinoma of Lung; Aged; Diabetes Insipidus; Female; Humans; Hypopituitarism; Lung Neoplasms; Prognosis
PubMed: 31664980
DOI: 10.1186/s12902-019-0445-5 -
Frontiers in Endocrinology 2022Combined pituitary hormone deficiency (CPHD) is not a rare disorder, with a frequency of approximately 1 case per 4,000 live births. However, in most cases, a genetic... (Review)
Review
Combined pituitary hormone deficiency (CPHD) is not a rare disorder, with a frequency of approximately 1 case per 4,000 live births. However, in most cases, a genetic diagnosis is not available. Furthermore, the diagnosis is challenging because no clear correlation exists between the pituitary hormones affected and the gene(s) responsible for the disorder. Next-generation sequencing (NGS) has recently been widely used to identify novel genes that cause (or putatively cause) CPHD. This review outlines causative genes for CPHD that have been newly reported in recent years. Moreover, novel variants of known CPHD-related genes ( and genes) that contribute to CPHD through unique mechanisms are also discussed in this review. From a clinical perspective, variants in some of the recently identified causative genes result in extra-pituitary phenotypes. Clinical research on the related symptoms and basic research on pituitary formation may help in inferring the causative gene(s) of CPHD. Future NGS analysis of a large number of CPHD cases may reveal new genes related to pituitary development. Clarifying the causative genes of CPHD may help to understand the process of pituitary development. We hope that future innovations will lead to the identification of genes responsible for CPHD and pituitary development.
Topics: High-Throughput Nucleotide Sequencing; Humans; Hypopituitarism; Pituitary Hormones; Transcription Factors
PubMed: 36237189
DOI: 10.3389/fendo.2022.1008306 -
Journal of Korean Medical Science Mar 2022The study aimed to compare the growth responses to 3 years of growth hormone (GH) treatment in children and adolescents with GH deficiency (GHD) according to idiopathic,... (Comparative Study)
Comparative Study
Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency.
BACKGROUND
The study aimed to compare the growth responses to 3 years of growth hormone (GH) treatment in children and adolescents with GH deficiency (GHD) according to idiopathic, organic, isolated (IGHD), and multiple pituitary hormone deficiency (MPHD).
METHODS
Total 163 patients aged 2-18 years (100 males and 63 females; 131 idiopathic and 32 organic GHD; 129 IGHD and 34 MPHD) were included from data obtained from the LG Growth Study. Parameters of growth responses and biochemical results were compared during the 3-year GH treatment.
RESULTS
The baseline age, bone age (BA), height (Ht) standard deviation score (SDS), weight SDS, mid-parental Ht SDS, predicted adult Ht (PAH) SDS, and insulin like growth factor-1 (IGF-1) SDS were significantly higher in the organic GHD patients than in the idiopathic GHD patients, but peak GH on the GH-stimulation test, baseline GH dose, and mean 3-year-GH dosage were higher in the idiopathic GHD patients than in the organic GHD patients. The prevalence of MPHD was higher in the organic GHD patients than in the idiopathic GHD patients. Idiopathic MPHD subgroup showed the largest increase for the ΔHt SDS and ΔPAH SDS during GH treatment, and organic MPHD subgroup had the smallest mean increase after GH treatment, depending on ΔIGF-1 SDS and ΔIGF binding protein-3 (IGFBP-3) SDS. The growth velocity and the parental-adjusted Ht gain were greater in the idiopathic GHD patients than the organic GHD patients during the 3-year GH treatment, which may have been related to the different GH dose, ΔIGF-1 SDS, and ΔIGFBP-3 SDS between two groups. Multiple linear regression analysis revealed that baseline IGF-1 SDS, BA, and MPH SDS in idiopathic group and baseline HT SDS in organic group are the most predictable parameters for favorable 3-year-GH treatment.
CONCLUSION
The 3-year-GH treatment was effective in both idiopathic and organic GHD patients regardless of the presence of MPHD or underlying causes, but their growth outcomes were not constant with each other. Close monitoring along with appropriate dosage of GH and annual growth responses, not specific at baseline, are more important in children and adolescents with GHD for long-term treatment.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT01604395.
Topics: Adolescent; Body Height; Child; Child, Preschool; Congenital Hypothyroidism; Dwarfism, Pituitary; Female; Human Growth Hormone; Humans; Male
PubMed: 35315601
DOI: 10.3346/jkms.2022.37.e90 -
AACE Clinical Case Reports 2022We report a case of pituitary metastasis (PM) presenting with acute anterior and posterior pituitary dysfunction following a two-decade-long oncologic course marked by...
OBJECTIVE
We report a case of pituitary metastasis (PM) presenting with acute anterior and posterior pituitary dysfunction following a two-decade-long oncologic course marked by disease progression.
CASE REPORT
An elderly woman with a history of stage IIA invasive ductal carcinoma of the breast presented with confusion. Her laboratory evaluation was significant for panhypopituitarism and central diabetes insipidus, and magnetic resonance imaging findings were suggestive of PM. She was treated with hormone replacement, resulting in the reversal of her metabolic and cognitive derangements.
DISCUSSION
PM is a rare complication of advanced malignancy. Although several malignancies may spread to the pituitary, the most common are breast cancer in women and lung cancer in men. Unlike pituitary adenomas, which predominantly involve the anterior pituitary, PM has a predilection for the posterior lobe and infundibulum due to direct access via systemic circulation. The clinical presentation of PM depends on the size of the metastatic deposit and other structures involved in the vicinity of the sella. Magnetic resonance imaging with gadolinium is the gold standard for the evaluation of sellar masses. The diagnosis of PM involves a thorough history, physical examination, biochemical evaluation of the hypothalamic-pituitary axis, and imaging studies.
CONCLUSION
Metastatic involvement of the pituitary is a rare condition seen in <2% of resected pituitary masses. The clinical presentation is heterogeneous and can include headache, visual impairment, and panhypopituitarism. Unfortunately, the presence of PM portends a poor prognosis, and the median survival rate after diagnosis is 6 to 13.6 months.
PubMed: 35097195
DOI: 10.1016/j.aace.2021.06.006 -
Pituitary Dec 2021Leptospirosis is a common tropical febrile illness which may manifest with the hepatorenal syndrome and systemic hemorrhagic manifestations. Pituitary apoplexy is a rare...
Leptospirosis is a common tropical febrile illness which may manifest with the hepatorenal syndrome and systemic hemorrhagic manifestations. Pituitary apoplexy is a rare but life-threatening condition characterized by a hemorrhage within the pituitary gland or a pituitary adenoma. Apoplexy is very rarely associated with some inducing events such as infectious diseases such as dengue hemorrhagic fever, Hantaan virus, Puumala virus have also been reported to cause pituitary apoplexy. We present the first case of pituitary apoplexy in a patient who was being treated for leptospirosis and discuss the possible mechanisms of apoplexy in the scenario presented. We also review other reports of infectious causes that may result in pituitary apoplexy.
Topics: Humans; Hypopituitarism; Leptospirosis; Male; Middle Aged; Pituitary Apoplexy; Pituitary Neoplasms
PubMed: 34021443
DOI: 10.1007/s11102-021-01156-1 -
Journal of Neurosurgery. Case Lessons Sep 2023Ameloblastic carcinoma (AC) is a rare odontogenic carcinoma with histological features resembling ameloblastoma. Metastasis to distant organs and direct expansion into...
BACKGROUND
Ameloblastic carcinoma (AC) is a rare odontogenic carcinoma with histological features resembling ameloblastoma. Metastasis to distant organs and direct expansion into the skull base structures are associated with a poor clinical outcome. This rare case of AC metastasis to the pituitary gland presented without local recurrence at the primary focus of the maxilla.
OBSERVATIONS
A 47-year-old man had a 2-year history of AC in the right maxilla. Computed tomography for his regular checkup incidentally demonstrated pituitary tumor, rapidly growing over 2 months. He presented with the recent onset of panhypopituitarism and visual field defect. Magnetic resonance imaging showed a large, irregularly shaped intrasellar and suprasellar lesion with chiasmal compression. Endoscopic endonasal transsphenoidal surgery was performed for decompression of the optic apparatus to avoid intracranial spread. Histopathology confirmed metastatic AC, and a genetic panel test confirmed BRAF V600E mutation. Stereotactic radiotherapy (SRT) with the CyberKnife system was administered to the residual tumor. Remarkable tumor shrinkage was obtained, and panhypopituitarism was resolved 12 months later.
LESSONS
A multidisciplinary treatment strategy including maximal safe resection to avoid dissemination in combination with SRT may be crucial for local control with the preservation of pituitary and visual functions in patients with solitary pituitary metastatic AC.
PubMed: 37728240
DOI: 10.3171/CASE23264 -
Children (Basel, Switzerland) Oct 2022Brain tumors are the second most frequent type of all pediatric malignancies. Depending on their localization, patients with brain tumors may present neurological or... (Review)
Review
INTRODUCTION
Brain tumors are the second most frequent type of all pediatric malignancies. Depending on their localization, patients with brain tumors may present neurological or ophthalmological symptoms, but also weight anomalies and endocrine disorders ranging from growth hormone deficiency, anomalies of puberty, diabetes insipidus to panhypopituitarism. Immediately at diagnosis, all patients with brain tumors require a complete assessment of the hypothalamic-pituitary function in order to address eventual endocrine disorders. Moreover, children and adolescents undergoing brain surgery must receive peri- and postoperative hydrocortisone stress therapy. Post-operative disorders of water homeostasis are frequent, ranging from transient diabetes insipidus, as well as syndrome of inappropriate antidiuretic hormone secretion to persistent diabetes insipidus. Late endocrine disorders may result from surgery near or within the hypothalamic-pituitary region. Pituitary deficits are frequent after radiotherapy, especially growth hormone deficiency. Thyroid nodules or secondary thyroid cancers may arise years after radiotherapy. Gonadal dysfunction is frequent after chemotherapy especially with alkylating agents.
CONCLUSION
Early detection and treatment of specific endocrine disorders at diagnosis, perioperatively, and during long-term follow-up result in improved general and metabolic health and quality of life.
PubMed: 36360345
DOI: 10.3390/children9111617 -
Clinical Case Reports Dec 2019Panhypopituitarism secondary to Neurosarcoidosis is a rare however serious complication. This diagnosis should remain in the differential in patients with...
Panhypopituitarism secondary to Neurosarcoidosis is a rare however serious complication. This diagnosis should remain in the differential in patients with hypothalamic-pituitary dysfunction. Biopsy of lesions will give definitive diagnosis.
PubMed: 31893082
DOI: 10.1002/ccr3.2521