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Endocrine Journal Jul 2023Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior pituitary gland and...
Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior pituitary gland and hypothalamus. LYH is subdivided into lymphocytic adenohypophysitis (LAH), lymphocytic infundibulo-neurohypophysitis (LINH), and lymphocytic panhypophysitis (LPH) depending on the primary site. Most cases occur in adults, with few cases reported in children, and it is especially important to distinguish LYH from suprasellar malignancies, such as germ cell tumors and other neoplastic diseases. Although a biopsy is necessary for definitive diagnosis, it is desirable to be able to diagnose the disease without biopsy if possible, especially in children, because of the surgical invasiveness of the procedure. Recently, serum anti-rabphilin-3A antibodies have attracted attention as diagnostic markers for LYH, especially in LINH, but there are only a few reports on pediatric patients. In the present study, we experienced two children with LPH and LAH, respectively, who tested positive for anti-rabphilin-3A antibodies. This is the first report of children with LYH other than LINH positive for anti-rabphilin-3A antibodies, and anti-rabphilin-3A antibodies may be a useful non-invasive diagnostic marker not only for LINH but also for LYH in general. We also discuss the sensitivity and specificity of anti-rabphilin-3A antibody testing in cases where histological diagnosis has been made.
Topics: Adult; Humans; Child; Autoimmune Hypophysitis; Hypopituitarism; Pituitary Diseases; Pituitary Gland, Posterior
PubMed: 37045780
DOI: 10.1507/endocrj.EJ22-0637 -
The Journal of Clinical Endocrinology... Sep 2023Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by congenital factors. (Observational Study)
Observational Study
CONTEXT
Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by congenital factors.
OBJECTIVE
We aimed to estimate the national incidence of cCPHD diagnosed before age 18 years and in subgroups.
METHODS
Patients with cCPHD were identified in the Danish National Patient Registry and Danish hospital registries in the period 1996-2020. Hospital files were reviewed and incidences calculated using background population data. Incidence was the main outcome measure.
RESULTS
We identified 128 patients with cCPHD; 88 (68.8%) were males. The median (range) age at diagnosis was 6.2 (0.01-19.0) years. The median (25th;75th percentile) number of hormone deficiencies at diagnosis was 3 (3; 4) at <1 year vs 2 (2; 2) at 1-17 years, P < .0001. Abnormal pituitary magnetic resonance imaging findings were seen in 70.3% (83/118). For those born in Denmark aged <18 years at diagnosis (n = 116/128) the estimated national incidence (95% CI) of cCPHD was 10.34 (7.79-13.72) per 100 000 births, with an annual incidence rate of 5.74 (4.33-7.62) per million. In subgroup analysis (diagnosis <1 vs 1-17 years), the incidence was highest in the 1-17 years subgroup, 7.97 (5.77-11.00) vs 1.98 (1.39-2.84) per 100 000 births, whereas the annual incidence rate was highest at <1 year, 19.8 (13.9-28.4) vs 4.69 (3.39-6.47) per million births.
CONCLUSION
cCPHD had the highest incidence rate and the most hormone deficiencies in those diagnosed at <1 year. The incidence was highest in the 1-17 years age group, underscoring the need for multiple pituitary hormone investigations throughout childhood and adolescence in children with only 1 hormone deficiency.
Topics: Male; Child; Female; Adolescent; Humans; Infant; Child, Preschool; Incidence; Hypopituitarism; Pituitary Hormones; Denmark
PubMed: 37043518
DOI: 10.1210/clinem/dgad198 -
Cureus Mar 2023The most well-known cause of hyperglycemia is diabetes mellitus, a condition that affects the body's ability to either use (type 2 diabetes mellitus - T2DM) or produce...
A Pediatric Patient With Type 1 Diabetes Mellitus With Poor Glycemic Control, Medication-Resistant Hypertension, and New-Onset Headache Diagnosed With Adrenocorticotropic Hormone (ACTH)-Secreting Pituitary Macroadenoma.
The most well-known cause of hyperglycemia is diabetes mellitus, a condition that affects the body's ability to either use (type 2 diabetes mellitus - T2DM) or produce (type 1 diabetes mellitus - T1DM) insulin. Exogenous insulin is the mainstay therapy to achieve optimal glucose control in T1DM, though glucose hemostasis is affected by several factors. Following the initiation of insulin therapy, symptoms of polyuria, polydipsia, and weight loss are reversed. Diabetes mellitus is associated with several complications, including but not limited to, renal disease (hypertension, microalbuminuria), peripheral neuropathy, delayed growth, and delayed puberty. Hyperglycemia can also be caused by acute illness, surgery, trauma, infection, parenteral nutrition, obesity, or other medical conditions such as Cushing syndrome and polycystic ovarian syndrome. While refractory hyperglycemia is often attributed to poor adherence to medications, other organic etiologies should also be considered, especially in the setting of early-onset complications of diabetes mellitus. In this report, we present a case of a pediatric patient with T1DM with refractory hyperglycemia and medication-resistant hypertension who was lost to follow-up. When he returned to the endocrinology clinic, he had Cushingoid features and a headache. After multiple admissions for hypertension, the patient was discovered to have a pituitary macroadenoma. Following the removal of the adenoma, the patient's insulin requirement decreased substantially and his blood pressure returned to normal, allowing all blood pressure medications to be discontinued.
PubMed: 37012937
DOI: 10.7759/cureus.35698 -
Human Reproduction (Oxford, England) Jun 2023Do the Edinburgh Selection Criteria correctly identify female cancer patients under the age of 18 who are at risk of premature ovarian insufficiency (POI) as candidates...
STUDY QUESTION
Do the Edinburgh Selection Criteria correctly identify female cancer patients under the age of 18 who are at risk of premature ovarian insufficiency (POI) as candidates for ovarian tissue cryopreservation (OTC)?
SUMMARY ANSWER
Patient assessment using these criteria accurately identifies those at risk of POI, who can be offered OTC and future transplantation as a means of fertility preservation.
WHAT IS KNOWN ALREADY
Treatment for childhood cancer can have adverse consequences on future fertility; at the time of diagnosis, fertility risk assessment should be undertaken in order to identify patients to whom fertility preservation should be offered. The Edinburgh selection criteria, based on planned cancer treatment and patient health status, are utilized to identify those at high risk and therefore eligible for OTC. However, this procedure is not without risk and there are few data on the efficacy of the procedure in prepubertal patients. As such, long-term follow-up of reproductive outcomes is necessary, to ensure that OTC is being offered appropriately.
STUDY DESIGN, SIZE, DURATION
Cohort study encompassing all females diagnosed with cancer under the age of 18 in South East Scotland, from 1 January 1996 to 30 April 2020. Patients were followed up for reproductive outcomes to assess for diagnosis of POI.
PARTICIPANTS/MATERIALS, SETTING, METHODS
A total of 638 eligible patients were identified; patients under the age of 12 or deceased before the age of 12 were excluded from the study, leaving a study population of 431 patients. Electronic records were reviewed for reproductive function, assessed by current menstruation, pregnancy (in the absence of POI diagnosis), reproductive hormone measurements, pubertal progression, or diagnosis of POI. Patients on hormonal contraception (other than for treatment of POI or panhypopituitarism with no history of gonadatoxic treatment) were excluded from analysis (n = 9). Analysis on remaining 422 patients was carried out using the Kaplan-Meier methods, with POI as the defined event, and Cox proportional hazards model.
MAIN RESULTS AND THE ROLE OF CHANCE
In the study population of 431 patients, median ages at diagnosis and analysis were 9.8 and 22.2 years, respectively. Reproductive outcomes were unavailable in 142 patients; the assumption was made that these patients did not have POI, but a subanalysis excluding these patients was also performed. Of the 422 patients aged >12 at analysis and not taking hormonal contraception, OTC was offered to 37 patients and successfully performed in 25 patients. Of the 37 patients offered OTC (one at time of relapse), nine (24.3%) developed POI. Of the 386 not offered OTC, 11 (2.9%) developed POI. The probability of developing POI was significantly higher in those offered OTC (hazard ratio [HR] 8.7 [95% CI 3.6-21]; P < 0.0001), even when those patients with unknown outcomes were excluded from the analysis (HR 8.1 [95% CI 3.4-20]; P < 0.001). All patients offered OTC who developed POI did so after treatment for primary disease; in those not offered OTC, five patients (45.5%) developed POI after treatment for disease relapse.
LIMITATIONS, REASONS FOR CAUTION
A significant number of patients had unknown reproductive outcomes; many of these patients were engaged in ongoing follow-up but did not have documented reproductive assessment. This may have introduced bias to the analysis and highlights the need for reproductive follow-up as part of routine cancer aftercare. In addition, the relatively young age of the patient population and short duration of follow-up in some cases demonstrates the need for ongoing follow-up of this cohort.
WIDER IMPLICATIONS OF THE FINDINGS
The prevalence of POI after childhood cancer is low, but the Edinburgh selection criteria remain a robust tool for selecting those at high risk at the time of diagnosis, to offer OTC appropriately. However, disease relapse necessitating more intensive treatments remains a challenge. This study additionally highlights the importance of routine assessment and documentation of reproductive status in haematology/oncology follow-up.
STUDY FUNDING/COMPETING INTEREST(S)
K.D. is supported by a CRUK grant (C157/A25193). This work was undertaken in part in the MRC Centre for Reproductive Health, (supported by MRC grant MR/N022556/1). R.A.A. has received consulting fees from Ferring and Roche Diagnostics; payment from Merck and IBSA for educational events; and laboratory materials from Roche Diagnostics. The other authors have no competing interests to declare.
TRIAL REGISTRATION NUMBER
N/A.
Topics: Pregnancy; Humans; Female; Child; Fertility Preservation; Follow-Up Studies; Cohort Studies; Cryopreservation; Primary Ovarian Insufficiency; Neoplasms; Menopause, Premature
PubMed: 37011633
DOI: 10.1093/humrep/dead060 -
Cureus Feb 2023Parkinsonism is a rare manifestation of brain tumors that has most commonly been reported in association with gliomas and meningiomas. In this paper, we describe a...
Parkinsonism is a rare manifestation of brain tumors that has most commonly been reported in association with gliomas and meningiomas. In this paper, we describe a unique case of secondary Parkinsonism that was precipitated by a craniopharyngioma. A 42-year-old female presented with resting tremors, rigidity, and bradykinesia. Her past medical history was significant for a craniopharyngioma resection four months prior. The postoperative course was complicated by severe delirium, panhypopituitarism, and diabetes insipidus. Notably, she was taking haloperidol and aripiprazole daily for four months to manage her delirium and psychotic episodes. Her preoperative brain MRI showed a compressive effect of the craniopharyngioma on the midbrain and nigrostriatum. Drug-induced Parkinsonism was initially suspected given extended treatment with antipsychotics. Haloperidol and aripiprazole were stopped, and benztropine was started with no improvement. Consequently, the patient was treated with carbidopa/levodopa with symptomatic improvement. A dopamine transporter (DaT) scan was done after starting carbidopa/levodopa and showed asymmetric decreased uptake in dopamine transporter in the striatum. Only one other case of Parkinsonism following craniopharyngioma resection was found in the literature review. Unlike our example, the symptoms resolved following surgical intervention and did not require a long-term treatment with carbidopa/levodopa. The purpose of our case report is to highlight brain tumors as a potential cause of secondary Parkinsonism in younger patients for an early surgical intervention can be curative.
PubMed: 37007394
DOI: 10.7759/cureus.35621 -
Medicina (Kaunas, Lithuania) Feb 2023: Combined pituitary hormone deficiency (CPHD) is a rare heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and shortage of at least one...
: Combined pituitary hormone deficiency (CPHD) is a rare heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and shortage of at least one or more other hormones of the pituitary gland including thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin. Rare pathogenic variants in nearly 30 genes have been identified as an underlying cause of CPHD pathogenicity. Among these genes, paired-like homeobox 1 () has been reported to be the most common cause of CPHD. : In the present study, we investigated a large family of Saudi origin with three adult sisters suffering from short stature in combination of secondary amenorrhea. : Whole-exome sequencing followed by Sanger sequencing shows a homozygous missense variant (NM_006261.5; c.211C > T; p.R71C) in the gene segregating with the disease phenotype within the family. In silico analysis studies show that this variant is highly conserved among several orthologues and is predicted as likely pathogenic using various bioinformatics tools. : Our finding presents the first Saudi familial case of autosomal recessive form of CPHD caused by the variant.
Topics: Female; Humans; Homeodomain Proteins; Hypopituitarism; Mutation; Saudi Arabia
PubMed: 36984475
DOI: 10.3390/medicina59030474 -
Journal of Mid-life Health 2022Lymphocytic hypophysitis (LYH) is a rare inflammatory disease in which lymphoplasmacytic infiltration of the pituitary gland can potentially lead to panhypopituitarism....
Lymphocytic hypophysitis (LYH) is a rare inflammatory disease in which lymphoplasmacytic infiltration of the pituitary gland can potentially lead to panhypopituitarism. This entity was first recognized in 1962 by Goudie and Pinkerton. We report the case of a 36-year-old nonpregnant female operated for a presumed nonsecreting pituitary adenoma. On intraoperative squash cytology and histology of excision biopsy confirmed the diagnosis of LYH. Review of the literature shows that most reported cases have occurred in women during pregnancy or during postpartum period. Many were accurately diagnosed only after biopsy or at necropsy. It is suspected to be an autoimmune endocrinopathy as concomitant lymphocytic infiltration of the thyroid and pituitary glands has been noted and antipituitary antibodies have been found in some instances. Clinically and radiologically, LYH may mimic a nonsecretory pituitary adenoma. Intraoperative diagnosis may prevent unnecessary excision of potentially functioning pituitary.
PubMed: 36950203
DOI: 10.4103/jmh.jmh_32_21 -
International Journal of Endocrinology... Jan 2023A female patient, 48 years of age, with a complaint of recurrent episodes of diffuse chest pain, vertigo, and shortness of breath in the last five years, presented...
INTRODUCTION
A female patient, 48 years of age, with a complaint of recurrent episodes of diffuse chest pain, vertigo, and shortness of breath in the last five years, presented needing immediate medical attention.
CASE PRESENTATION
The patient was evaluated and suspected of severe hypotension, cold hands, and feet with distended neck veins and muffled heart sounds. ECG revealed low voltage complexes and large pericardial effusion with a collapse in the diastole of the right auricle and ventricle. The provisional diagnosis was kept as pericardial effusion with hemodynamic compromise. Detailed history disclosed that she had suffered similar events five years before, during which a pericardial tap was performed, and the patient was on anti-tuberculosis treatment for nine months. The symptoms continued despite the treatments. She had a history of severe postpartum hemorrhage, failure of lactation, and early menopause with a history of hysterectomy dated ten years back. The biochemical study indicated decreased LH, FSH, TSH, ACTH, and serum cortisol levels. MRI brain revealed empty sella. The hormonal replacement was started with clinical improvement.
CONCLUSIONS
Although hypothyroidism is an extremely rare cause of pericardial effusion, detailed history and further investigations are imperative to form a definitive diagnosis.
PubMed: 36945343
DOI: 10.5812/ijem-131341 -
Annals of Medicine and Surgery (2012) Mar 2023Sheehan's syndrome is a well-recognized cause of panhypopituitarism secondary to pituitary apoplexy, followed by postpartum hemorrhage. Depending upon the degree of...
UNLABELLED
Sheehan's syndrome is a well-recognized cause of panhypopituitarism secondary to pituitary apoplexy, followed by postpartum hemorrhage. Depending upon the degree of ischemic injury, it can be either partial or complete.
CASE PRESENTATION
We report an interesting case of a 35-year-old woman admitted to our hospital with complaints of abdominal distension, which was later presumed to be due to disseminated tuberculosis (TB) after excluding the possible differentials. During the treatment course, she was going through repeated attacks of hypovolemic shock and hypoglycemia due to adrenocortical insufficiency. This, along with the history of prolonged amenorrhea 4 years back due to severe postpartum hemorrhage in her last pregnancy, has led us to our diagnosis of partial Sheehan's syndrome. After 1 month of starting steroid and anti-TB therapy, it was quite surprising when she presented with features of pancytopenia and antitubercular drug-induced hepatitis.
DISCUSSION
Sheehan's syndrome may have a varying degree of presentation depending upon the degree of damage to the pituitary gland, which includes amenorrhea, lactation failure, adrenocortical insufficiency, hyponatremia, hypoglycemia, as well as pancytopenia in some rare instances The hormone panel especially the thyroid profile should be monitored carefully. Such cases are often challenging to deal with because of their varying degrees of presentation and the delay in diagnosis due to a lack of clinical suspicion.
CONCLUSION
Therefore, we believe that this rare presentation of pancytopenia in Sheehan's syndrome with fluctuating thyroid profile and abdominal TB in the background will let clinicians approach such a rare disease differently.
PubMed: 36923749
DOI: 10.1097/MS9.0000000000000244 -
Endocrine Connections May 2023Checkpoint inhibitors are now widely used in the management of many cancers. Endocrine toxicity is amongst the most common side effects. These endocrinopathies differ... (Review)
Review
Checkpoint inhibitors are now widely used in the management of many cancers. Endocrine toxicity is amongst the most common side effects. These endocrinopathies differ from most other immune-related toxicities in frequently being irreversible and rarely requiring cessation of checkpoint inhibitor therapy. This review considers an approach to the presentation and diagnosis of endocrinopathies, compared to classical endocrine diagnosis, suggesting improvements to classification and treatment based on fundamental endocrine principles. These will help to align management with other similar endocrine conditions and standardise the diagnosis and reporting of endocrine toxicity of checkpoint inhibitors to improve both endocrine and oncological care. In particular, the importance of considering any inflammatory phase (such as painful thyroiditis or hypophysitis resulting in the pituitary enlargement), from the endocrine consequences (transient hyperthyroidism followed by hypothyroidism, pan-hypopituitarism or isolated adrenocorticotrophic hormone deficiency), is highlighted. It is also important to consider the potential confounder of exogenous corticosteroids in adrenal suppression.
PubMed: 36884258
DOI: 10.1530/EC-22-0513