Introduction: Functioning gonadotroph adenomas, also known as follicle-stimulating hormone (FSH)-secreting pituitary adenomas (FSH-omas), are rare pituitary tumors characterized by the secretion of biologically active FSH. Unlike the more common clinically nonfunctioning gonadotroph adenomas, these tumors produce endocrine manifestations due to excessive FSH secretion. Clinical presentation may result from local mass effects such as headache, visual disturbances due to optic chiasmal compression, or from hormonal activity affecting reproductive function. The endocrine manifestations vary between males and females and can lead to diagnostic challenges. Cases: We report two patients with functioning gonadotroph adenomas presenting with distinct clinical manifestations. The first case involved a 23-year-old female who presented with secondary amenorrhea for 4 years, accompanied by personality changes. Abdominal ultrasound demonstrated bilaterally enlarged multicystic ovaries suggestive of ovarian hyperstimulation, which subsequently regressed postoperatively. Biochemical evaluation revealed inappropriately elevated FSH levels (3.5-fold increase), with suppressed luteinizing hormone (LH) and markedly elevated estradiol levels (11-fold increase). Pituitary magnetic resonance imaging (MRI) identified a large sellar–suprasellar mass with mass effect, consistent with a pituitary macroadenoma. The second case involved a 68-year-old male who presented with progressively worsening vision over 2 years. Hormonal evaluation demonstrated elevated FSH levels (4.5-fold increase), with relatively normal LH and low testosterone levels. Pituitary MRI revealed a sellar mass consistent with a pituitary adenoma. Both patients subsequently underwent pterional craniotomy with tumor debulking. Histopathological examination confirmed gonadotroph adenomas, with positive immunohistochemical staining for FSH. Conclusion Functioning gonadotroph adenomas are rare and may present with diverse clinical features related to gonadal hyperstimulation or mass effects. Early recognition of the characteristic hormonal profile and radiological findings is crucial for diagnosis and appropriate management. These cases highlight the importance of considering functioning gonadotroph adenoma in patients presenting with unexplained gonadal hyperstimulation or atypical reproductive hormonal profiles.
Gonadotrophs ; Adenoma

BACKGROUND

Central diabetes insipidus (CDI) is a common complication following transsphenoidal surgery for pituitary adenomas, but CDI as an initial presentation in pituitary adenomas is extremely rare. We report a case of a 67-year-old Filipino male with pituitary macroadenoma presenting as central diabetes insipidus, manifesting as a two-month history of severe frontotemporal headache, increased thirst, and polyuria, which was managed with desmopressin followed by transsphenoidal surgery. Three months postoperatively, the thyroid and adrenocorticotropic axis remained intact, and pituitary bright spot recovery was observed. He was clinically stable; hence, desmopressin was gradually tapered and discontinued. This case report presents a unique case of a pituitary adenoma that initially presented with central DI but later showed a complete resolution of symptoms along with the normalization of the "bright spot" seen on MRI, a hallmark of the posterior pituitary. Treatment options for preoperative CDI may include surgical or medical management, with some cases reported as self-limiting. However, the rarity of such cases underscores the urgent need for more clinical studies to fully understand the course of this condition. This case highlights a unique presentation of central diabetes insipidus in a pituitary macroadenoma and the possibility of complete resolution of symptoms coinciding with pituitary bright spot recovery post operatively.

Adenoma ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic ; Neoplasms ; Pituitary Neoplasms ; Research Report

Introduction: Atypical parathyroid adenoma is a rare cause of primary hyperparathyroidism and represents a borderline entity between benign adenoma and parathyroid carcinoma. Due to overlapping clinical, biochemical, and imaging features with carcinoma, diagnosis can be challenging and relies on histopathological evaluation to guide management and follow-up. Case: A 25-year-old male presented with a 3-month history of generalized bone pain and lethargy, with significant weight loss of 17 kg over 7 months. He denied headache, visual disturbance, or hypoglycemic episodes. There was no known family history of endocrine tumors. Examination revealed a palpable right-sided neck mass. Biochemical evaluation showed severe primary hyperparathyroidism with marked hypercalcemia (4.12 mmol/L), hypophosphatemia (0.6 mmol/L), markedly elevated intact parathyroid hormone (137 pmol/L) and alkaline phosphatase (1,958 U/L). Thyroid function was normal. Neck ultrasound demonstrated a right TIRADS 4 lesion, and fine-needle aspiration suggested parathyroid tissue. Sestamibi scan localized a hyperfunctioning right inferior parathyroid gland measuring 2.1 × 1.7 × 3.3 cm. During admission, he sustained low-impact fragility fractures of the left femur and humerus after a fall. Preoperatively, management of hypercalcemia proved challenging. Despite aggressive medical therapy and intensive intravenous hydration with up to 6 liters of normal saline per day, serum calcium levels remained persistently exceeding 3.0 mmol/L. He underwent right hemithyroidectomy with excision of the right inferior parathyroid gland. The postoperative course was complicated by hungry bone syndrome, necessitating intravenous calcium gluconate infusion for 1 week. Histopathological examination confirmed the diagnosis of an atypical parathyroid adenoma. On postoperative follow-up, serum calcium and phosphate levels normalized while he remained on calcium carbonate and calcitriol supplementation. Conclusion Severe primary hyperparathyroidism in young patients may indicate aggressive parathyroid pathology. Atypical parathyroid tumors can mimic carcinoma, and diagnosis requires histopathology with long-term follow-up due to uncertain malignant potential.
Carcinoma ; Adenoma

Introduction: Gender-affirming hormone therapy (GAHT) for transgender women utilizes estrogen and an anti-androgen like cyproterone acetate (CPA) which can both lead to hyperprolactinemia. Although mild prolactin elevations are common, the development of prolactinomas in transgender women on GAHT is rare. Case: A 23-year-old trans-woman on self-purchased estradiol hemihydrate (17β-estradiol) 4 mg and CPA 12.5 mg daily for GAHT presented with galactorrhea. Investigations revealed markedly elevated prolactin at 2,369 mIU/L and elevated estradiol at 848 pmol/L. A pituitary magnetic resonance imaging (MRI) identified a 0.4 × 0.5 cm microprolactinoma. She declined clinical advice to reduce her medication dose and continued on the same treatment. In the subsequent year, her peak prolactin was 1,383 mIU/L, and a repeat MRI showed the microprolactinoma remained stable. She continues to be on close clinical monitoring. Transgender females experience approximately a fourfold higher rate of developing prolactinomas. The patient’s choice to persist with GAHT reflects the challenges in managing gender dysphoria alongside medical complications. A recent paper by BJ Nolan et al. suggests using prolactin levels exceeding 2,000–3,000 mIU/L to guide further investigations including a pituitary MRI to rule out a prolactinoma. In most cases, the serum prolactin levels will return to the normal range with a reduction or discontinuation of the GAHT. Normalization of prolactin levels have been reported after gonadectomy and CPA cessation in transgender females on GAHT, which suggests that CPA usage may be associated with higher risk of hyperprolactinemia compared to estrogen therapy. Conclusion This case highlights that GAHT can lead to development of prolactinomas. Prolactin monitoring and MRI investigations should be reserved for symptomatic patients, and for those with significantly elevated or increasing prolactin levels. While treatment using dopamine agonists have been reported, this case demonstrates that conservative management and close monitoring can be a viable approach for structurally stable microprolactinomas.
Female ; Prolactinoma ; Transgender Persons

Introduction: Prolactinomas are the most common functioning pituitary adenomas, accounting for 50% of all pituitary tumors. Microprolactinomas (<10 mm) are the most frequent subtype and usually follow a benign course, with tumor progression reported in only 5% of cases. We report a rare case of microprolactinoma that progressed to macroprolactinoma over 16 years. : A 39-year-old female was initially diagnosed with a microprolactinoma at the age of 23 during evaluation for irregular menses since menarche. Baseline pituitary magnetic resonance imaging (MRI) at that time revealed a lesion measuring 2 × 2 × 0.8 mm. She was treated with bromocriptine for 2 months but subsequently lost to followup. The patient had been married for 10 years without conceiving and continued to have irregular menses. She decided to repeat prolactin before seeking fertility treatment after 16 years. Laboratory investigations revealed markedly elevated serum prolactin (>42,000 mIU/L) with suppressed gonadotropins, while thyroid and adrenal axes were normal. She reported no galactorrhea, headache, or visual disturbances and notably did not develop amenorrhea. Visual field assessment was normal. Repeat pituitary MRI demonstrated that the previously diagnosed microprolactinoma had progressed to a macroprolactinoma, measuring 2.1 × 2.3 × 1.6 cm, with extension into the left cavernous sinus and encasement of the left internal carotid artery, without optic chiasm compression. Oral cabergoline 0.25 mg twice weekly was initiated. She was counselled regarding potential risks of dopamine agonist therapy and advised to use mechanical contraception during treatment. At the 2-week follow-up, she tolerated therapy well. Follow-up imaging and prolactin monitoring were planned at 3 months to assess treatment response and guide fertility planning. Conclusion This case highlights the rare progression of microprolactinoma to macroprolactinoma, underscoring the importance of long-term monitoring in patients with prolactinoma. A careful balance between tumor control and fertility management is essential for optimizing care in women of reproductive age.
Prolactinoma

Introduction: Giant prolactinomas represent 2–3% of prolactin-secreting pituitary adenomas and show a male predominance. They present with mass effect symptoms and hypogonadism, but may be overlooked, leading to delayed diagnosis. Although dopamine agonists are first-line therapy, management remains challenging due to the large size and invasive behavior. This study aims to describe the clinical and radiological features, treatment modalities, and outcomes of three cases of giant prolactinomas. We retrospectively reviewed three men with giant prolactinomas, including their clinical, biochemical, and radiological features, along with treatment and outcomes. Cases: Three male patients aged 35–59 years with giant prolactinomas were included. Two patients presented with visual disturbances, headache, and features of hypogonadism, while one patient had acute confusion and visual loss secondary to obstructive hydrocephalus requiring ventriculoperitoneal shunt insertion. Imaging in all cases demonstrated large invasive pituitary macroadenomas with extensive local extension. Baseline serum prolactin levels were markedly elevated, ranging from 86,568 to 441,116 uIU/mL (86–324 uIU/mL). All patients had secondary hypogonadism, while secondary hypothyroidism and hypocortisolism were each identified in two patients. One patient also had poorly controlled diabetes mellitus at presentation. Dopamine agonist therapy was initiated as the primary therapy for all the patients. Two patients developed cerebrospinal fluid leak following initiation of low-dose dopamine agonist therapy (one patient received cabergoline 0.25 mg weekly, while another received 0.5 mg weekly), which resolved spontaneously with conservative management. Serum prolactin levels decreased markedly, with significant improvement in symptoms related to mass effect following treatment. Conclusion Giant prolactinomas may present with significant mass effect and multiple pituitary hormone deficiencies. Dopamine agonists remain the cornerstone of management and can result in substantial biochemical and clinical improvement even in large invasive tumors. However, rapid tumor shrinkage may lead to complications such as cerebrospinal fluid leak, highlighting the importance of close monitoring during treatment initiation.
Prolactinoma

Introduction: Hurthle cell adenoma is a rare benign thyroid neoplasm that can only be diagnosed through histopathological examination. Hurthle cell neoplasm typically presents as nonfunctioning cold nodule on thyroid scintigraphy. We report a rare case of Hurthle cell adenoma presenting with thyroid storm, with unusual findings of “cold” within “hot” thyroid nodule on scintigraphy. Case: A 73-year-old male with hypertension, chronic kidney disease, coronary artery disease, and Parkinson’s disease presented to the emergency department with fever and diarrhea. His temperature was 38.4°C, heart rate 106 bpm, and blood pressure 138/75 mmHg, with atrial fibrillation and signs of heart failure. The Burch-Wartofsky score was 50, consistent with thyroid storm. Laboratory tests revealed free thyroxine 4 37.8 pmol/L (NR 11.5–22.7), free thyroxine 3 5.6 pmol/L (NR 3.5–6.5), and thyroid-stimulating hormone <0.01 mIU/L (NR 0.55– 4.78). Thyroid autoantibodies, including anti-thyroid peroxidase, anti-thyroglobulin, and thyroid-stimulating immunoglobulins, were negative (<0.10 IU/L). The thyroid storm was precipitated by invasive Klebsiella syndrome with endophthalmitis and lung and liver abscess. He was treated with Lugol’s iodine, corticosteroid, antibiotics, and carbimazole. Ultrasound thyroid revealed a mixed cystic-solid nodule in the left thyroid lobe, measuring 2.3 × 3.3 × 4.3 cm (TIRADS category 3). Technetium-99m thyroid scintigraphy demonstrated a hyperfunctioning left thyroid nodule with a focal intranodular cold spot measuring 5.0 × 3.7 cm. Fine needle aspiration cytology of the nodule was benign follicular cells. Following stabilization with anti-thyroid treatment, he underwent left hemithyroidectomy. Histopathology examination revealed a Hurthle cell adenoma without capsular or vascular invasion. Postoperatively, he remained clinically euthyroid. Surveillance ultrasound performed 8 months later showed a normal right thyroid lobe, and lifelong surveillance was planned. Conclusion This case illustrates a rare and unusual presentation of thyroid storm caused by a toxic Hurthle cell adenoma containing an intranodular cold spot on scintigraphy. To our knowledge, only one similar case has been reported in the literature, and our case is the first to present with thyroid storm.
Oxyphil Cells ; Thyroid Crisis ; Adenoma

The parathyroid glands play a crucial role in calcium regulation through parathyroid hormone (PTH) production. Indicators for those with hyperparathyroidism would be elevated serum calcium and PTH levels with further evaluation followed by imaging with neck ultrasonography and parathyroid scintigraphy. Limitations in the initial imaging modalities include operator-dependent sensitivity in neck ultrasonography, and poor spatial resolution, and poor sensitivity for smaller-sized adenomas in parathyroid scintigraphy.

This case report describes a 24-year-old female with elevated parathyroid hormone, and borderline elevated calcium levels with an initial diagnosis of primary hyperparathyroidism secondary to a suspected parathyroid adenoma. The dual tracer dual-phase scintigraphy accompanied by SPECT/CT and subtraction method was negative for a parathyroid adenoma, however, ultrasonography of the neck showed a suspicious nodular structure. Due to the high clinical suspicion, a subsequent ¹⁸F-Choline PET/CT was done and identified an ¹⁸F-Choline-avid lesion, highly suggestive of a parathyroid adenoma. This prompted parathyroidectomy in which histopathology as well as intraoperative reduction in parathyroid hormone levels, confirmed the presence of a parathyroid adenoma.

This is the first recorded ¹⁸F-Choline PET/CT usage for a parathyroid adenoma in the country and highlights the potential of its usage as a sensitive and specific imaging modality in cases where conventional imaging is inconclusive.

Human ; Female ; Young Adult: 19-24 Yrs Old ; Parathyroid Adenoma ; Parathyroid Neoplasms ; Hyperparathyroidism

Gastrointestinal polyposis syndromes are primarily characterized by multiple polyps in the gastrointestinal tract, with their pathogenic mechanisms largely related to genetic factors and involving multiple signaling pathways. Adenomatous polyposis syndromes are mainly associated with APC gene variants, while some cases may arise from MUTYH gene variants. Peutz-Jeghers syndrome is primarily linked to STK11 gene variants. Juvenile polyposis syndrome is mainly associated with variants in the SMAD4 and BMPR1A genes. PTEN hamartoma tumor syndrome is predominantly caused by PTEN gene variants. Hereditary mixed polyposis syndrome is primarily related to variants of the GREM1 and BMPR1A genes. This article systematically summarizes the advances in genetic research on Gastrointestinal polyposis syndromes to enhance clinicians' understanding of these diseases and improve their diagnostic and therapeutic approaches.
Humans ; Adenomatous Polyposis Coli/genetics* ; Smad4 Protein/genetics* ; Peutz-Jeghers Syndrome/genetics* ; PTEN Phosphohydrolase/genetics* ; Bone Morphogenetic Protein Receptors, Type I/genetics* ; Intestinal Polyposis/congenital* ; Intercellular Signaling Peptides and Proteins/genetics* ; Adenomatous Polyposis Coli Protein/genetics* ; Protein Serine-Threonine Kinases/genetics* ; AMP-Activated Protein Kinase Kinases ; Neoplastic Syndromes, Hereditary

OBJECTIVES

To report a case of a giant pleomorphic adenoma in a 64-year-old Filipino woman, its management and surgical outcome.

METHODS

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient: One

RESULTS

A 64-year-old woman presented with a 50-year history of a slow growing, painless, left infra-auricular mass, not associated with facial weakness, xerostomia, or hearing loss. Computed tomography revealed a 14 x 15 x 19 cm large lobulated complex enhancing mass with calcifications and septations, with no enlarged lymph nodes identified in the neck. Fine needle aspiration cytomorphology was consistent with pleomorphic adenoma. The patient underwent superficial parotidectomy with facial nerve preservation. The facial nerve was identified using standard landmarks. Final histopathological findings were consistent with pleomorphic adenoma measuring 23.5 cm x 11.5 cm x 15 cm and weighing 2177 grams

CONCLUSION

Pleomorphic adenoma can grow to a gigantic size if left untreated. It often presents as a chronic, slow growing and painless swelling. The approach to its diagnosis is mainly clinical and can be confirmed by fine needle aspiration biopsy and computed tomography scan. In our case, the standard landmarks for facial nerve identification were still reliable despite the size of the mass, producing good post-surgical outcomes.

Human ; Female ; Middle Aged: 45-64 Yrs Old ; Adenoma ; Lymph ; Needles ; Diagnosis ; Xerostomia ; Hearing Loss ; Neck ; Research Report ; Tomography ; Facial Nerve