A Unique Case of Intracranial Bifocal Germinoma.

Primary intracranial germ cell tumors are rare tumors that often occur in children and young adults. We report a case of a 17-year-old male, who presented with vomiting, headache, and blurring of vision of the left eye on the temporal aspect for two months. His biological assessment showed panhypopituitarism. Serum markers showed elevated beta human chorionic gonadotropin and lactate dehydrogenase. A solid cystic lesion was noted on imaging, involving the sella, parasellar region, and pineal region with calcifications within. Diagnosis of bifocal germinoma was confirmed by tumor biopsy. The treatment protocol for the patient involved four cycles of chemotherapy using etoposide and carboplatin, followed by a course of radiotherapy.

Gonadotropic status in adult women with pituitary stalk interruption syndrome.

OBJECTIVE: Pituitary stalk interruption syndrome (PSIS) is a rare cause of congenital hypopituitarism. Limited data exist on the gonadotropic status and fertility of adult women with PSIS. Our study aims to describe pubertal development and the evolution of gonadotropic function and fertility in adult women with PSIS. DESIGN: A retrospective multicentric French study. METHODS: We described gonadotropic function in 56 adult women with PSIS from puberty onward. We compared live birth rates per woman with PSIS with age-matched controls from the large French epidemiological cohort (CONSTANCES). Additionally, we assessed height, body mass index (BMI), blood pressure, other metabolic parameters, and socioeconomic status. RESULTS AND CONCLUSIONS: Among 56 women with PSIS, 36 did not experience spontaneous puberty. Of these, 13 underwent ovarian stimulation, resulting in 7 women having a total of 11 children. In the subgroup with spontaneous puberty (n = 20), 4 had a total of 8 pregnancies, while 6 developed secondary gonadotropic deficiency. Women with PSIS had fewer children than controls (0.33 vs 0.63, P = .04). Median height was also lower (160.5 vs 165.0 cm, P < .0001). Although mean blood pressure was lower in women with PSIS compared with controls (111.3/65.9 ± 11.2/8.1 vs 118.7/72.1 ± 10.1/7.7 mmHg, P < .001), there were no significant differences in other metabolic parameters, notably BMI and lipid profile. Employment/academic status was not different in the 2 groups, but fewer women with PSIS were in relationships (42% vs 57.6% in controls, P = .02). The fertility prognosis in patients with PSIS needs optimization. Patients should be informed about the likelihood of declining gonadotropic function over time.

[A case of suspected IgG4-related hypophysitis presented with panhypopituitarism and central diabetes insipidus].

A 78-year-old man complained of subacute general fatigue and anorexia, following diplopia and gait disturbance. He demonstrated wide-based and small-stepped gait without objectively abnormal ocular movements. Brain |MRI showed enlargement of the pituitary stalk and gland with uniform contrast enhancement. PET-CT showed FDG |uptake in the pituitary gland, mediastinal lymph nodes, and left hilar lymph nodes. Blood investigations revealed panhypopituitarism and high serum IgG4 levels up to 265 |mg/dl. Histopathological examination revealed no IgG4-positive cell infiltration in the biopsied mediastinal lymph nodes. However, we suspected IgG4-associated hypophysitis based on the clinical symptoms and MRI findings, which were markedly resolved with steroid. Central masked diabetes insipidus was manifested, but was improved with oral desmopressin. We should pay close attention to the fact that IgG4-related hypophysitis may present with various symptoms regarded as indefinite complaints related to aging or underlying diseases, especially in elderly patients with multimorbidity.

Pituitary Abscess Causing Panhypopituitarism in a Patient With Neurobrucellosis: Case Report.

Background/Objective: Pituitary abscess is an uncommon life-threatening disease that could lead to panhypopituitarism. It is important to suspect its prevalence in regions with endemic infectious diseases. Case Report: A 55-year-old man, a farmer, with a background of consumption of unpasteurized dairy products, presented with headache, impaired consciousness, and fever that started in February 2023. Initial test results were consistent with neuroinfection. Brain MRI showed ventriculitis; the pituitary gland was heterogeneous with the presence of an 8 × 8 mm abscess. The pituitary hormone axis was evaluated, and it showed results compatible with the results of panhypopituitarism with central hypothyroidism, central hypocortisolism, central hypogonadism, and growth hormone deficiency. Hormone replacement treatment with hydrocortisone and levothyroxine was started. The Rose Bengal test for Brucella spp. and 2-mercaptoethanol Brucella agglutination test showed positive results. After neurobrucellosis (NB) was diagnosed, antibiotic treatment was commenced. The patient was discharged 6 weeks later and treatment with prednisone, levothyroxine, recombinant somatropin, testosterone, as well as doxycycline, and rifampin was continued for another 4 months. Discussion: NB and pituitary abscess are rare manifestations of brucellosis and are challenging to diagnose due to their nonspecific clinical presentation and cerebrospinal fluid (CSF) findings. NB diagnosis relies on neurologic symptoms and serological evidence of Brucella infection. Magnetic resonance imaging is the preferred diagnostic tool for pituitary abscesses. Medical management may be sufficient, while transsphenoidal drainage is not always necessary. Hormonal deficits typically remain permanent. Conclusion: Pituitary abscess could be suspected in patients presenting with symptoms of neuroinfection, panhypopituitarism, and heterogenous image in the magnetic resonance imaging differential diagnosis. Opportune management can lead to reduced mortality and improved recovery of the pituitary hormone function.

A case report of a child with pulmonary hypertension associated with SARS-CoV-2 infection.

We encountered a pediatric case of pulmonary hypertension triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A 14-year-old girl was brought to the emergency department of our hospital with fever, respiratory distress, and impaired consciousness. She tested positive for SARS-CoV-2 upon a polymerase chain reaction examination and had prolonged hypoxemia without pneumonia. An echocardiography revealed elevated right ventricular pressure. She was diagnosed with pilocytic astrocytoma at the age of 10 years and underwent a resection of a pituitary tumor. Hormone replacement therapy was administered postoperatively, but her growth hormones were not activated because of concerns about tumor recurrence. Echocardiography at the age of 13 years showed normal right ventricular pressure. On admission, she had an abnormal liver function, elevated liver fibrosis markers, a decreased platelet count, and hepatosplenomegaly, suggesting pulmonary and portal hypertension. The diagnosis was pulmonary hypertension associated with SARS-CoV-2 infection. The mechanism of the pulmonary hypertension was thought to be portal hypertension owing to growth hormone deficiency and SARS-CoV-2 infection. The patient's symptoms improved with oxygenation and bed rest without additional targeted pulmonary hypertension therapy, and her right ventricular pressure decreased. This case demonstrates that a pediatric patient with subclinical pulmonary hypertension may develop pulmonary hypertension triggered by SARS-CoV-2 infection.

[Panhypopituitarism, Diabetes Insipidus and Bone Pain - Is There a Systemic Disease Behind it?]

INTRODUCTION: A 27-year-old man presented due to unilateral leg pain. He had a history of diabetes insipidus and panhypopituitarism. Laboratory analysis revealed hormonal undersupply. MRI showed a large contrast medium-absorbing mass in the pituitary gland extending into the hypothalamus. FDG-PET/CT examination revealed a hypermetabolic soft tissue lesion around the left femoral shaft. After biopsy of the lesion, a diagnosis of multisystemic Langerhans cell histiocytosis was made.

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.

Biallelic pathogenic variants in the TTC26 gene are known to cause BRENS (biliary, renal, neurological, skeletal) syndrome, an ultra-rare autosomal recessive condition with only few patients published to date. BRENS syndrome is characterized by hexadactyly, severe neonatal cholestasis, and involvement of the brain, heart, and kidney, however the full phenotypic and genotypic spectrum is unknown. Here, we report on a previously undescribed homozygous intronic TTC26 variant (c.1006-5 T > C) in a patient showing some of the known TTC26-associated features like hexadactyly, hypopituitarism, hepatopathy, nephropathy, and congenital heart defect. Moreover, he presented with a suspected unilateral hearing loss and bilateral cleft lip-palate. The variant is considered to affect correct splicing by the loss of the canonical acceptor splice site and activation of a cryptic acceptor splice site. Hereby, our patient represents one additional patient with BRENS syndrome carrying a previously unreported TTC26 variant. Furthermore, we confirm the involvement of the pituitary gland to be a common clinical feature of the syndrome and broaden the clinical spectrum of TTC26 ciliopathy to include facial clefts and a probable hearing involvement.

Fertility issues in hypopituitarism.

Women with hypopituitarism have lower fertility rates and worse pregnancy outcomes than women with normal pituitary function. These disparities exist despite the use of assisted reproductive technologies and hormone replacement. In women with hypogonadotropic hypogonadism, administration of exogenous gonadotropins can be used to successfully induce ovulation. Growth hormone replacement in the setting of growth hormone deficiency has been suggested to potentiate reproductive function, but its routine use in hypopituitary women remains unclear and warrants further study. In this review, we will discuss the clinical approach to fertility in a woman with hypopituitarism.

Rare Case of a Clival Chondroma Resulting in Panhypopituitarism.

Chondromas are rare benign tumors composed of hyaline cartilage that can arise in various locations in the body. Their occurrence in the clivus, leading to panhypopituitarism, is exceptionally rare. This case report describes a 93-year-old female with a known clival chondroma who presented with altered mental status, presumed to be secondary to toxic metabolic encephalopathy due to an infectious cause. Further diagnostic evaluation revealed pituitary hormone levels below the normal range. This case report aims to highlight a unique case of panhypopituitarism attributed to a chondroma in the clivus with tumor extension to the sellar region, emphasizing the diagnostic challenges and treatment options for this unusual pathology.

Herpes Simplex Virus Diencephalitis Leading to Panhypopituitarism.

Herpes simplex virus (HSV) is one of the most common causes of viral encephalitis. Hypothalamic-pituitary dysfunction has rarely been reported in HSV encephalitis, with few reports into the longer term outcomes for these patients. A 46-year-old male presented with a 10-day history of delirium, fever, and polydipsia. Initial computed tomography of the brain and cerebrospinal fluid cell counts were normal. Magnetic resonance imaging showed T2-hyperintensity affecting bilateral infundibuli, hypothalami, subthalamic nuclei, and optic radiations. Serial cerebrospinal fluid detected HSV1 DNA and we diagnosed him with HSV diencephalitis. He had marked biochemical abnormalities from the outset, with dramatic changes in serum sodium levels. He was ultimately diagnosed with permanent central diabetes insipidus and panhypopituitarism following evidence of central hypothyroidism, hypogonadotrophic hypogonadism, and a flat cortisol response to an insulin tolerance test. Neurocognitive recovery took several months, but subtle deficits in executive function and information processing remain. Hypothalamic hyperphagia developed as well as temperature dysregulation. He requires lifelong hormonal replacement and is undergoing regular endocrine follow up. This case highlights hypothalamic-pituitary dysfunction as a rare endocrine complication of HSV diencephalitis and illustrates the complexity of managing this in the long term.

Giant anterior communicating artery aneurysm with intrasellar extension.

Introduction: Aneurysms extending into the sella are uncommon with only a few cases reported till date. Most of these arise from either the supraclinoidal or infraclinoidal segments of the internal carotid artery. Research question: Can Anterior communication artery aneurysm present with hypopituitarism due to compression of pituitary gland? Materials & methods: Case report and literature review. Results: We discuss this rare presentation in a middle-aged patient its surgical management and the follow-up course with a review of available literature. Discussion & conclusion: Anterior communicating artery aneurysms extending into the sella are extremely uncommon with only 4 cases reported in literature. They are usually giant aneurysms which are partially thrombosed with presenting with predominantly with mass effect in this case visual impairment and hypofunction of the pituitary.

Hypoprolactinemia. Does it matter? Redefining the hypopituitarism and return from a mumpsimus : "Absence of proof is not the proof of absence".

Prolactin (PRL) is secreted by the lactotroph cells in the anterior pituitary gland which is under inhibitory control of dopamine. The mature human PRL has more than 300 physiological actions including lactation, reproduction, homeostasis, neuroprotection, behavior, water and electrolyte balance, immunoregulation and embryonic and fetal development. PRL is involved in the growth and development of mammary gland, preparation of the breast for lactation in the postpartum period, synthesis of milk, and maintenance of milk secretion. Abnormalities in the synthesis and secretion of PRL may result in hyperprolactinemia or hypoprolactinemia. Although hyperprolactinemia has been extensively investigated in the literature, because of the subtle or unclearly defined symptoms, hypoprolactinemia is a less-known and neglected disorder. Failure of lactation is a well-known clinical manifestation of hypoprolactinemia. Recent studies reveal that hypoprolactinemia may have some effects beyond lactation such as increased risk for metabolic abnormalities including insulin resistance, abnormal lipid profile, obesity and sexual dysfunction. Very low level of PRL is suggested to be avoided in patients receiving dopamin agonist treatment to prevent unwanted effects of hypoprolactinemia. Another important point is that hypoprolactinemia is not included in the classification of hypopituitarism. Anterior pituitary failure is traditionally classified as isolated, partial and complete (panhypopituitarism) hypopituitarism regardless of prolactin level. Therefore, there are two kinds of panhypopituitarism: panhypopituitarism with normal or high PRL level and panhypopituitarism with low PRL level. In this review, we present two personal cases, discuss the diagnosis of hypoprolactinemia, hypoprolactinemia associated clinical picture and suggest to redefine the classification of hypopituitarism.

A case of Lemierre's syndrome causing panhypopituitarism, cavernous sinus thrombosis, ischaemic stroke and pulmonary embolism.

Infection is a rare cause of panhypopituitarism and has not been reported in the context of Lemierre's syndrome. We present the case of a previously well 19-year-old man, who presented acutely unwell with meningitis and sepsis. Fusobacterium necrophorum was isolated from peripheral blood cultures and identified on cerebrospinal fluid with 16S rDNA Polymerase Chain Reaction (PCR). Imaging demonstrated internal jugular vein thrombosis with subsequent cavernous venous sinus thrombosis. Pituitary function tests were suggestive of panhypopituitarism. The patient was diagnosed with Lemierre's syndrome complicated by meningitis, cavernous sinus thrombosis, base of skull osteomyelitis, ischaemic stroke and panhypopituitarism. He was treated with 13 weeks of intravenous antibiotics followed by 3 weeks of oral amoxicillin, and anticoagulated with dalteparin then apixaban. His panhypopituitarism was managed with hydrocortisone, levothyroxine and desmopressin.

Congenital Nasal Pyriform Aperture Stenosis in Association With Polymalformative Syndrome of the Midline.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare neonatal entity characterized by a reduction in the pyriform orifice of the nasal cavity. Because of its nonspecific clinical presentation as respiratory distress symptoms, it can mimic choanal atresia. Although isolated forms have been described, CNPAS is often associated with other congenital midline malformations. A single median incisor is usually found, with or without other cervical and maxillofacial malformations. The existence of hypothalamic-pituitary axis malformations with endocrine disorders is also possible and, in some cases, a moderate to severe intellectual deficit in association with other brain malformations. Radiological investigation is a central point in the multidisciplinary management of this type of polymalformative syndrome.

Dental manifestation and management in a patient with combined pituitary hormone deficiency: a two-year case report.

Combined pituitary hormone deficiency (CPHD) is a rare disorder caused by a complete absence of the anterior pituitary gland hormones. The Dental manifestation, managmnet and two-year-follow-up of a case of a 12-year-old patient with CPHD is reported in this paper. A 12-year-old male patient with medical history of congenital CPHD and vitamin D deficiency presented for dental treatment. The patient looked tired and younger than his chronological age. Intraoral examination revealed good oral hygiene, generalized edematous gingiva, physiological pigmentation and high maxillary labial frenum attachment. The occlusion examination, showed class I molars, 2 mm overjet and 90% overbite. Single anterior tooth #21 crossbite with 1.5 mm diastema. Also, Miller's class I recession in tooth #31 with a probing depth of 1 mm, and grade I mobility. The treatment plan was formulated in phases, and the primary physician consultation was obtained and a clearance for dental treatment with a recommendation to double the hydrocortisone dose before a stressful dental procedure was recommended. Preventive and restorative programs were planned and provided. Then, the lower lingual holding arch was provided after the extraction of mandibular primary canines with composite turbo, and tooth #21 crossbite was corrected using a nance appliance with Z spring. Finally, the patient was recommended to attend follow-up visits every three months. During which the preventive program was reinforced and the restorative treatments were reevaluated. At the 2-year-follow-up satisfactory and stable aesthetic and functional results were obtained. This report highlights the oral manifestations, the value of establishing a preventive program, and restorative, and orthodontic interventions among patients with CPHD.

From acute abdomen to hormonal crisis: Case report on a long-delayed Sheehan's syndrome diagnosis.

INTRODUCTION: Sheehan's syndrome (SS) is a rare cause of hypopituitarism resulting from postpartum haemorrhage and pituitary necrosis. It remains an underdiagnosed condition, especially in developing countries due to poor obstetric care and home deliveries. This case report highlights the significance of recognizing atypical presentations of SS, such as pancytopenia, to aid in early diagnosis and management. CASE PRESENTATION: A 40-year-old female presented with acute abdomen symptoms and was initially diagnosed with acalculous cholecystitis. However, a detailed history revealed a history of postpartum haemorrhage 18 years prior, leading to a provisional diagnosis of SS. Further investigations confirmed panhypopituitarism, including hypothyroidism, hypocortisolism, and hypogonadism. Notably, the patient also exhibited pancytopenia, a rarely reported haematological manifestation of SS. DISCUSSION: SS often presents with nonspecific symptoms, leading to delayed or missed diagnoses. In this case, the patient's initial presentation of acute abdomen symptoms was attributed to secondary adrenal insufficiency due to panhypopituitarism. The presence of pancytopenia, along with hyponatremia, further complicated the clinical picture. Hormone replacement therapy led to a remarkable improvement in the patient's condition, emphasizing the importance of early diagnosis and intervention. CONCLUSION: SS is a common cause of panhypopituitarism in developing countries, but its atypical presentations, such as pancytopenia, are rare and often overlooked. This case highlights the need for increased awareness among clinicians to consider SS in patients with unexplained haematological abnormalities, particularly in regions with high rates of postpartum haemorrhage. Early recognition and appropriate hormone replacement therapy can significantly improve patients' outcomes and prevent long-term complications associated with this underdiagnosed syndrome.

Neurosarcoidosis-Induced Panhypopituitarism.

Sarcoidosis is an inflammatory condition that can impact multiple organs in the body such as the lungs, skin, eyes, and, occasionally, the central nervous system. When sarcoidosis affects the nervous system, it is referred to as neurosarcoidosis and is estimated to occur in approximately 5%-15% of sarcoid patients. When neurosarcoidosis affects the pituitary gland, it can result in panhypopituitarism, which can be life-threatening. A 35-year-old male with a known diagnosis of sarcoidosis by skin biopsies presented to the hospital with altered mental status, hypernatremia, hypotension, and hypothermia. He reported symptoms of polyuria and polydipsia for several weeks before admission. Laboratory workup revealed elevated serum sodium at 167 mmol/L, high serum osmolality at 381 mOsm/kg, and low urine osmolality at 381 mOsm/kg, consistent with diabetes insipidus. Anterior pituitary hormone profile workup revealed low 8 am serum cortisol (1.9 mcg/dL) and inappropriately normal adrenocorticotropic hormone (ACTH) (34 pg/ml), low serum free testosterone (<2.5 ng/dL), low luteinizing hormone (0.7 mIU/ml), low follicular stimulating hormone (< 2.6 mIU/ml), low free T4 at 0.4 ng/dL. and inappropriately normal thyroid-stimulating hormone (TSH) at 2.77 uIU/mL. Serum prolactin was mildly elevated at 86.8 ng/mL. Angiotensin-converting enzyme level was within the normal range at 33 U/L. A diagnosis of panhypopituitarism was made. Brain MRI revealed a 3 cm mass in the suprasellar region involving the hypothalamus and bilateral optic tracts with a mass effect on the anterior third ventricle. No discrete pituitary or stalk lesion was identified. A ventriculostomy tube was placed for developing hydrocephalus. A biopsy of the suprasellar mass revealed non-caseating granuloma, confirming neurosarcoidosis. Treatment was initiated with high-dose IV corticosteroids to manage secondary adrenal insufficiency and neurosarcoidosis. He was also started on IV desmopressin and IV levothyroxine to manage his diabetes insipidus and central hypothyroidism. He was transitioned to oral therapy upon discharge. Panhypopituitarism secondary to neurosarcoidosis is a rare presentation that can occur due to the infiltration of the pituitary gland or the infiltration of the hypothalamus affecting the hypothalamic-pituitary axis. Neurosarcoidosis should be considered a differential when evaluating patients with symptoms consistent with panhypopituitarism. Prompt diagnosis and initiation of corticosteroids and deficient hormones can be lifesaving.

Brain Dead and Pregnant.

The presence of pregnancy in a brain-dead woman is a rare circumstance. We present a case of a 31-year-old woman who was 22 weeks pregnant at the time of diagnosis of brain death after intracranial and subarachnoid hemorrhage. After a multidisciplinary approach, the decision was made to continue somatic support to maintain the pregnancy until optimal fetus viability. Cesarean section was performed after 11 weeks (33 weeks gestational age) of brain-death diagnosis with a successful delivery of a live infant. Management of brain-death complications during pregnancy is described.