bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hypothalamic involvement of sarcoidosis presenting with behavioral disorder
Authors: Erbatur Nuriye Hale , Koç Gönül , Mehlika Kuşkonmaz Şerife , Çulha Cavit 
Published: January 2023

Abstract

Introduction
Sarcoidosis is an idiopathic, chronic, disease with non-caseating granuloma formation. Central nervous system (CNS) involvement (neurosarcoidosis) is observed in 5–15% of cases. Hypothalamic–pituitary (HP) neurosarcoidosis (NS) accounts for 0.5% cases of sarcoidosis. We present a case of hypothalamic-pituitary sarcoidosis with compulsive behaviors, diabetes insipidus and pan-hypopituitarism.

Clinical Case
A 43-year-old male patient was admitted to our clinic with complaints of fatigue, polydipsia, erectile dysfunction for 1 month, as well as compulsive behaviors such as excessive shopping, exercise and hyperphagia. In his history, it was learned that he had been diagnosed with sarcoidosis 1 year ago, based on skin biopsy and clinical examination, and discontinued the treatment. On physical examination, erythematous lesions were observed on the face and back. Multiple lymphadenopathies (LAP) of 2 cm in size were palpated in the axilla and inguinal region. The patient's neurological examination was normal. MRI of the brain showed heterogeneous enhancement of the gland parenchyma posteriorly. In sagittal sections, an area that is not contrasted to the gland base is selected. (Fig. 1) The infundibulum is markedly thick and shows enhancement, and in its continuity, similar thickening and enhancement are observed in the hypothalamus. Due to the thickening of the infundibulum, the optic chiasm appears to be spread on both sides. Differential diagnosis was TB, sarcoidosis and lymphoproliferative disease.
Pituitary function showed free T4 0.53 ng/ml (normal 0.93–1.7), TSH 0,89 μIU/ml (normal 0.27–4.2), FSH 0.87 milliunit/ml (normal 1–11), LH &lt;0.55 milliunit/ml (normal 1–8), ACTH 1,5 pg/ml (normal 7.2–63), Cortisol 3,59 μg/dl Prolactin 14.3 ng/ml (normal 0.5–17), total testosterone 2,5 ng/ml (normal 37–198). He tested negative for ANA, HIV, Hepatitis C, Mycobacterium TB Interferon-Gamma. The patient underwent skin biopsy and excisional lymph node biopsy. Non-necrotizing granulomas found at biopsy samples. He was started on desmopressin, methylprednisolone, levothyroxine. Patient had significant improvement following treatment.

Conclusion
Neurosarcoidosis may present with various clinical features depending on the anatomical location of the disease. Hypogonadotropic hypogonadism, diabetes insipidus, amenorrhea and anterior pituitary insufficiency are the most common endocrine findings. Hypothalamic findings such as changes in thirst, disturbance in thermoregulation, changes in appetite and body weight without diabetes insipidus have been reported in case reports. Although it is a rare condition, symptoms of hypothalamic-pituitary changes, can be seen in sarcoidosis and are an indication for treatment. It requires long-term management by a multidisciplinary team of patients.
Sustained hypercortisolemia after bilateral adrenalectomy in Cushing's disease
Authors: Muradov Ilkin , Kara Zehra , Uysal Serhat , Demir Ahmet Numan , Sulu Cem , Kadioglu Pinar 
Published: January 2023

Abstract

Introduction
Cushing's disease caused by pituitary corticotropin (ACTH)-secreting tumors. These tumors are almost always benign and are usually microadenomas. In 30 to 40 percent, the microadenoma is so small that it is not detectable by magnetic resonance imaging (MRI). Primary therapy consists of transsphenoidal surgery or pituitary irradiation. Patients who fail this first approach can be treated either by repeat transsphenoidal surgery, medical therapy, radiotherapy, or, as a final resort, surgical or medical adrenalectomy.

Clinical Case
A 38-year-old male patient presented with headache and fatigue. The laboratory examinations reviewed ACTH depending Cushing's syndrome. A suspicious lesion in the pituitary with no contrast enhancement was observed in Sella MRI. Cavernous sinus sampling consistent with central sources. He was operated in 2018 for pituitary Cushing's disease. Reticulin framework disrupted compatible with adenoma but, ACTH could not be stained in immunohistochemical staining for technical reasons. Due to the high cortisol levels of the patient in the postoperative follow-up, the patient underwent bilateral adrenalectomy in 2019.
Because of active Cushing's disease, patient was re-evaluated in 2022. In laboratory examinations, HGB 16.6 g/dL, WBC 6400 /uL, NEU 3200 /uL, PLT 228000 uL, cre 0.76 mg/dL, TSH 1.5 mIU/L, FT4 1.2 ng/dl, FSH 4.6 U/L, LH 7.98 U/L, PTH 23.7 ng/L, PRL 17 µg/L, Total Testosterone 571 ng/dl, Progesterone 0.06 µg/L, GH 0.04 ug/L, IGF1 83 µg/L were detected. Basal cortisol was 35 ug/dl and ACTH 67 ng/L. Cortisol with 1 mg of DST resulted in 28 ug/dl. 2 mg DST resulted in cortisol 38 ng/L. Free cortisol in the urine was found to be 281 mg/day (n&lt;130 mg/day). Empty sella was observed in sella MR. No prominent contoured lesion was observed in the pituitary gland. Adrenal gland was not observed in the Abdominal MRI. No tumor was detected in Thorax CT.
The patient's pasireotide 0.3 mg 1×1 treatment was continued. Metyropane 250 mg 2×1 was added to the treatment.

Conclusion
In Cushing's disease, the ACTH-secreting adenoma may be too small to be detected.
Difficulties in diagnosing acromegaly, acromegaly with apparently normal GH: Micromegaly
Authors: Demir Ahmet Numan , Kara Zehra , Sulu Cem , Kadiıoglu Pinar 
Published: January 2023

Abstract

Introduction
Acromegaly results from pathologically increased secretion of growth hormone (GH) from the pituitary somatotroph adenoma. If left untreated, it is associated with increased morbidity and mortality. We present a case of micromegaly, whose diagnosis is challenging for clinicians.

Clinical Case
A 40-year-old woman presented with complaints of enlarged facial features, hands and feet, and separation between teeth. She was using a salbutamol inhaler with the diagnosis of asthma. Her physical examination was unremarkable except for a body mass index of 28.7 kg/m2 and malocclusion. Insulin-like growth factor (IGF)-1 250 ng/mL (101–234) and GH 2.1 ng/mL was detected. 0, 1. and 2nd hour in oral glucose tolerance test (OGTT)-GH; hour GH/glucose values were 6.7/70, 1.5/98, 0.35 ng/ml /95 mg/dl, respectively. Sella magnetic resonance imaging (MRI) revealed an 8×5mm adenoma in the pituitary gland (Figure). Pseudoacromegaly causes such pachydermoperiostitis, severe insulin resistance, familial mandibular prognathism, use of phenytoin and minoxidil, and causes of false IGF-1 elevation such as pregnancy, puberty/adolescent period, thyrotoxicosis, glucocorticoid use were excluded. It was decided that the patient should be operated on. No adenoma was detected in the pathology tissue of the operated patient, but IGF-1 was detected at 201 ng/ml (101–234) and GH was 1,1 ng/ml in the 3rd postoperative month. The nadir GH was found to be 0.3 ng/ml in the OGTT-GH suppression test. Medical treatment was not started. The case has been followed for 2 years in remission.

Conclusion
Micromegaly describes a subset of patients with clinically evident acromegaly and elevated IGF-1 with apparently normal basal GH and often &lt;0.4 ng/mL glucose suppressed GH. This condition is relatively rare in patients with acromegaly. As in our case, micromegaly should be considered in diagnosing patients with “normal” GH but with clinical signs, or even patients without clinical signs but with pituitary tumors and elevated IGF-1.
GH-Producing pituitary adenoma and concomitant Rathke's cleft cyst: A case report
Authors: Yaman Kalender Derya Sema , Gölbaşı Murat , Ertürk Mehmet Sercan , Çavdar Ümit , Örük Güzide Gonca , Duygulu Gökhan , Önder Pamuk Barış 
Published: January 2023

Abstract

Introduction
Rathke cleft cysts (RCCs) are commonly believed to be cysts formed from remnants of Rathke's pouch. It is usually asymptomatic, &lt; 3mm in diameter, and found in 13–33% of normal pituitary glands. The coexistence of pituitary adenoma (PA) and RCC is rare (incidence rate of 0.51%-1.7%), and growth hormone hypersecretion has also been observed in a limited number of cases in these patients. Therefore, we aim to present a rare case of growth hormone- (GH-) producing PA with concomitant RCC.

Clinical Case
A 29-year-old female patient, due to primary amenorrhea, was diagnosed as having 46XY chromosomal Swyer syndrome from her previous visit, and she had bilateral salphengoopherectomy afterward. In clinical follow-ups, due to the presence of growth complaints in the hands and feet, insulin-like growth factor-1 (IGF-1) was found to be high. The basal serum GH value was 8.89 ng/mL, and IGF-1 was 369 ng/mL. The 75 gr oral glucose tolerance test (OGTT) result showed that the serum GH level was not suppressed below 1.0 μg/L, and the test was repeated twice. Other anterior pituitary hormone axes are normal. In the pituitary magnetic resonance imaging revealed a low-signal 4 mm Rathke cleft cyst is observed in the T1A image in the midsection of the pituitary gland and a high-signal intra-cystic nodule is observed within the cyst on the T1A image (Figure 1A). The fluid-fluid level is observed in the cyst on the T2A image (Figure 1B).

Conclusion
The relationship between RCC and PA is unclear and theoretical. The theory is “transitional pituitary tumor,” defined as the Rathke pouch forming the anterior lobe of the pituitary gland with a proliferation of the anterior wall. Moreover, PAs originate from the anterior lobe of the pituitary gland via clonal changes. This shows that RCCs originated from the remnant of the Rathke pouch, and PA has a common embryonic origin. Nevertheless, they rarely occur at the same time. Only 14 patients with GH-producing PA and concomitant RCC have been reported in the literature. Preoperative correct diagnosis of PA and RCC coexistence is difficult, because RCCs’ imaging characteristics (size, position, and intensity) are highly variable, and cystic degeneration occurs in 5% to 18% of PA cases. RCCs are often surrounded by the normal pituitary gland and are located in the nearby midline of the sellar region. MRI characteristics of sellar lesions for PAs existing concomitant with RCCs may present with variable intensity on T1-weighted imaging. If radiographic imaging shows that typical RCC and PA are not obvious at first glance, the possibility of concomitant PA still needs to be considered. If the PA in this patient had been nonfunctional, correct diagnosis of the concomitant PA would have been much more difficult. This case offers a reminder that although rare, RCC can accompany PA, and performing contrast-enhanced MRI is useful to detect RCC.
A detailed pituitary profile always matters
Authors: Helmy Assaad Khalil Ramy Samir 
Published: January 2023

Abstract
29-year-old female with known hypothyroidism and positive thyroid auto antibodies, followed up throughout pregnancy for adjusted doses of thyroid replacement therapy, presented 2 months post-partum with gradually increasing fatigue, repeated pre-syncope experience, inability to cope with daily home and family needs and headache.
Adequacy of thyroid replacement therapy was questioned, TSH has been performed: 0.18 mIU/ml.
Checking the blood pressure in lying and standing position has showed Postural hypotension. An urgent measurement of Cortisol (am) showed a result of1.06 ug/dl.
Preliminary Differential Diagnoses have been suggested; Pituitary apoplexy, Pituitary adenoma, Autoimmune adrenalitis (Autoimmune Polyglandular Syndrome) or Others.
On further detailed history, the patient affirmed dizziness and fainting liability on standing from lying position, bitemporal headache more in the morning. However, she denied frequent urination throughout the day, neither repeated times at night. In addition, she confirmed efficient breast feeding.
Continued Lab investigations:
ACTH (am) (Low); FT4 (Low; on replacement therapy); IGF1 (Normal)
Serum osmolality (Normal); Urine osmolality (Normal); E2 / LH / FSH (normal physiological levels)
Prolactin (normal for breast feeding)
MRI pituitary and sella: Diffuse isointense enlargement of anterior pituitary gland. Homogenous and strong diffuse pituitary enhancement with gadolinium contrast.
History and investigations were not fully matching with any of the previously proposed differential diagnoses, especially in regards of selective corticotroph and thyrotroph affection, sparing other pituitary cell types. Moreover, the autoimmune predisposition, the nature of the clinical presentation and its timing during early postpartum period, together with the laboratory and imaging investigations were all matching with the diagnosis of Lymphocytic Hypophysitis.
The Patient got pregnant again 14 months post-partum, reflecting spared gonadotroph function and highlighting the importance to identify this uncommon diagnosis and to notify the patient about normal gonadal function and the normal possibility of pregnancy.
However, she remained on hydrocortisone and thyroxine replacement. Finally, it is important that this condition should not be misdiagnosed in the first place as postpartum thyroid disturbance and TSH results, especially during and after pregnancy, shall always be interpreted in the clinical context and with the overall thyroid profile.
A case of primary ovarian failure with Nijmegen Breakage a chromosomal instability syndrome
Authors: Elif Boncukçuoğlu Ayşe , Akçay Seçkin , Üstay Özlem 
Published: January 2023

Abstract

Introduction
Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive chromosomal instability syndrome, characterized by dysmorphic facial features, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, combined immune deficiency, radiosensitivity, increased risk for cancer, as well as premature ovarian failure. Nibrin gene mutation is responsible for the pathogenesis of the disease. The mechanism of gonadal failure in NBS is thought to be meiotic arrest in gametocytes.

Clinical Case
A 23-year-old female was admitted to the Marmara University endocrinology outpatient clinic because of secondary amenorrhea. Her first menarche occurred spontaneously at the age of 13, but she has never bled again afterwards. In physical examination, blood pressure was 109/68 mmHg, pulse was 80/min, and temperature was 36°C. Her height was 163 cm, and weight was 67 kg, BMI: 25.6 kg/m2. Midfacial prominent appearance, micrognathia, microcephaly was observed. Breast was assessed for II stage in Tanner scale. Ferriman–Gallwey score was 5. Psychomotor development was natural, cognitive dysfunction was not observed. Her three siblings and aunt had a history of infertility, also her parents were third degree consanguineous. The patient stated that she had recurrent sinopulmonary infections and used several antibiotics since childhood. However, there was no hospitalization due to infection by now. Her two older sisters died due to cancer when they were 10 and 21 years old. The patient had primary ovarian insufficiency according to elevated serum gonadotropins concentration and low serum estradiol concentration (Table 1). The uterus was 50 mm in size, its contours were smooth, and the echo of myometrium was diffusely homogeneous. Bilateral ovaries were not observed in the suprapubic pelvic US examination. Karyotype analysis was performed that was found 46, XX. When considering her family history, facial dysmorphic appearance, and findings of primary ovarian failure, genetic analysis revealed NM_001024688.2 c.625C&gt;T(p.Q209*) homozygous mutation. The patient was started on hormone replacement therapy (estrogen 2 mg once daily, dydrogesterone 10 mg once daily) after the diagnosis. Genetic counseling, immunodeficiency and malignancy screenings were performed. Interestingly, despite the history of recurrent infection, total Ig levels and vaccine responses were normal. Although no malignancy was observed in our case, it is noteworthy that two older sisters died due to cancer. It was recommended to continue the annual screenings.

Conclusion
Family history should be thoroughly questioned in patients presenting with hypogonadism. NBS should be kept in mind as a rare cause in the presence of a typical phenotypic appearance, recurrent infections, and a family history of infertility and malignancy.
Primary Aldosteronism and COVID-19-related Management, Disease Severity, and Outcomes: A Retrospective Cohort Study
Authors: Thomas Teressa S , Walpert Allie R , Shen Grace , Dunderdale Carolyn , Srinivasa Suman 
Published: January 2023

AbstractContextThe SARS-CoV-2 virus is dependent on components of the renin-angiotensin-aldosterone system for infectivity. Primary aldosteronism (PA) is a form of secondary hypertension mediated by autonomous aldosterone production. The intersection of COVID-19 and PA, both which may involve components of the renin-angiotensin-aldosterone system, remains unknown.MethodsWe assessed PA as a risk factor for COVID-19 infection and compared management, severity of disease, and outcomes during COVID-19 with a matched population of patients with essential hypertension (EH) by conducting a retrospective observational cohort study.ResultsOf the patients with PA, 81 had a negative PCR test for COVID-19, whereas 43 had a documented positive PCR test for COVID-19. Those patients with PA who tested positive for COVID-19 tended to be female (P = .08) and the majority of those with COVID-19 infection identified as non-White race (P = .02) and Hispanic ethnicity (P = .02). In a subanalysis, 24-hour urine aldosterone on initial PA diagnosis tended to be higher those in the PA group who developed COVID-19 compared with those in the PA group who did not develop COVID-19 [median (interquartile range): 36.5 (16.9, 54.3) vs 22.0 (15.8, 26.8) mcg, P = .049] and was an independent predictor of COVID-19 infection controlling for sex, race, and ethnicity. Angiotensin-converting enzyme inhibitor, angiotensin II receptor blocker, and mineralocorticoid receptor antagonist use did not differ between those patients with PA who did and did not have COVID-19 infection. Comparing those patients with PA and matched patients with EH (n = 286) who were COVID-19 PCR positive, there was a significantly higher incidence of cardiovascular complications (12 vs 2%, P = .004) in the PA vs EH group.ConclusionThese data begin to inform us as to whether PA should be a newly identified subpopulation at risk for COVID-19-related cardiovascular disease sequelae.
Holding time has limited impact on constitutive innate immune function in a long-lived Antarctic seabird, the Adélie penguin: implications for field studies
Authors: Hicks Olivia , Kato Akiko , Wisniewska Danuta M. , Marciau Coline , Angelier Frédéric , Ropert-Coudert Yan , Hegemann Arne 
Published: January 2023

ABSTRACTThere is great interest in measuring immune function in wild animals. Yet, field conditions often have methodological challenges related to handling stress, which can alter physiology. Despite general consensus that immune function is influenced by handling stress, previous studies have provided equivocal results. Furthermore, few studies have focused on long-lived species, which may have different stress-immune trade-offs compared to short-lived species that have primarily been tested. Here, we investigate whether capture and handling duration impacts innate immune function in a long-lived seabird, the Adélie penguin (Pygoscelis adeliae). We found no evidence for changes in three commonly used parameters of innate immune function upon holding time of up to 2 h, suggesting that immune function in this species is more robust against handling than in other species. This opens up exciting possibilities for measuring immune function in species with similar life-histories even if samples cannot be taken directly after capture.
Parental exposure to ocean acidification impacts gamete production and physiology but not offspring performance in Nematostella vectensis
Authors: Glass Benjamin H. , Schmitt Angela H. , Brown Kristen T. , Speer Kelsey F. , Barott Katie L. 
Published: January 2023

ABSTRACT
Ocean acidification (OA) resulting from anthropogenic CO2 emissions is impairing the reproduction of marine organisms. While parental exposure to OA can protect offspring via carryover effects, this phenomenon is poorly understood in many marine invertebrate taxa. Here, we examined how parental exposure to acidified (pH 7.40) versus ambient (pH 7.72) seawater influenced reproduction and offspring performance across six gametogenic cycles (13 weeks) in the estuarine sea anemone Nematostella vectensis. Females exhibited reproductive plasticity under acidic conditions, releasing significantly fewer but larger eggs compared to ambient females after 4 weeks of exposure, and larger eggs in two of the four following spawning cycles despite recovering fecundity, indicating long-term acclimatization and greater investment in eggs. Males showed no changes in fecundity under acidic conditions but produced a greater percentage of sperm with high mitochondrial membrane potential (MMP; a proxy for elevated motility), which corresponded with higher fertilization rates relative to ambient males. Finally, parental exposure to acidic conditions did not significantly influence offspring development rates, respiration rates, or heat tolerance. Overall, this study demonstrates that parental exposure to acidic conditions impacts gamete production and physiology but not offspring performance in N. vectensis, suggesting that increased investment in individual gametes may promote fitness.
Accounting for the expansion of the universe using an energy/momentum model to construct the space-time metric
Authors: James Hugh 
Published: January 2023

Background: The success of the theories of special and general relativity in describing localised phenomena, such as objects undergoing high speed motion or located in gravitational fields, needs no further elaboration. However, when applied to the evolution of the universe several problems arise which can require an additional model, e.g., inflation during the early expansion, and adjustments to parameters to account for phenomena such as the late-time acceleration of the universe. Methods: Focusing on the difference between the ways in which space and time are measured, this paper shows that there are two paths which allow the equations of special relativity to be produced from the same basic postulates. Results: While the standard theory utilises the Minkowski metric, an alternate path is possible which uses an energy/momentum, or dynamic model which transforms the Minkowski metric into an Euclidean form by multiplying the coordinates by functions of γ (=(1-v2/c2 )-1/2) to derive a new space-time metric. When utilising this dynamic metric, the relativistic equations are unchanged for local phenomena such as the Lorentz coordinate transformation and the energy/momentum equation for high-velocity objects. Conclusions: However, the derived metric alters the perceived overall structure of the universe in a manner that, for the simplest model under this system, allows the reproduction of observed cosmological features, such as the intrinsic flatness of the universe and the apparent late-time acceleration of its expansion, without the need of additional models or changes in parameter values.