Patient Demographics > Gender > Male
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Summary
A patient treated with intramuscular testosterone replacement therapy for primary hypogonadism developed blurred vision shortly after receiving his testosterone injection. The symptom resolved over subsequent weeks and recurred after his next injection. A diagnosis of central serous chorioretinopathy (CSR) was confirmed following ophthalmology review. A decision was made to change the patient’s testosterone regime from this 12-weekly intramuscular injection to a daily topical testosterone gel, given the possibility that peak blood levels of testosterone following intramuscular injection were causing his ocular complaint. His CSR did not recur after this change in treatment. CSR secondary to testosterone therapy is a rare finding but has been reported previously in the literature.
Learning Points
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Blurred vision in patients treated with testosterone replacement therapy (TRT) should prompt an ophthalmology review.
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The potential for reduced risk of central serous chorioretinopathy (CSR) with daily transdermal testosterone remains a matter of conjecture.
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CSR is a rare potential side effect of TRT.
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Summary
Ectopic Cushing’s syndrome (ECS) is a rare disease associated with significant comorbidity. Among the causes of Cushing's syndrome, adrenocorticotropic hormone-producing extrapituitary tumours are rarely reported. This low frequency makes it difficult for the physician to acquire experience in its management.
In this report, we aimed to describe the clinical presentation, diagnostic approach and treatment modalities of 12 patients with ECS treated in a single tertiarycentre over a 17-year period. Although they can appear in different locations through the neuroendocrine system, lung tumours are the most frequently reported, as it occurs in our series. They can show different levels of aggressiveness and mild to severe clinical course. Therefore, distinguishing Cushing's disease can be challenging and sometimes requires more specific techniques such as invasive tests or no conventional imaging. Treatment includes controlling both hypercortisolism and neoplastic disease, and multidisciplinary management is recommended.
Learning points
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Ectopic Cushing's syndrome (ECS) accounts for 15% of endogenous Cushing's syndromes. Its infrequency implies that both diagnosis and treatment can be a challenge for clinicians without experience in its management.
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The most common location is the lung. Although older series reported small cell lung carcinoma (SCLC) as the main ECS-producing tumour, currently most cases are attributed to lung carcinoids.
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Low-grade tumours (lung carcinoids) present themselves with a more subtle and gradual hypercortisolism, and clinically this can be difficult to differentiate from hypercortisolism due to CD. In contrast, high-grade tumours (SCLC) show severe hypercortisolism with rapid evolution.
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The diagnostic approach is complex especially when the tumour is not previously known and the clinical presentation is subtle. Functional tests are mandatory in these cases, and nuclear medicine imaging can help when conventional imaging tests fail to identify the tumour.
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ECS treatment includes a wide variety of modalities oriented to treat both the excess of cortisol and the tumour itself. The tumour prognosis depends fundamentally on the type of adrenocorticotropic hormone-secreting tumour.
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Expert and multidisciplinary team is essential for successfully treating these complex and ill patients.
Search for other papers by Osamu Horikawa in
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Department of Medicine, Omihachiman Community Medical Center, Omihachiman, Shiga, Japan
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Search for other papers by Hiroshi Maegawa in
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Summary
A 17-year-old boy was referred to our endocrinology clinic for a clinical investigation of hyperinsulinemia. An oral glucose tolerance test showed plasma glucose concentrations in the normal range. However, insulin concentrations were considerably elevated (0 min: 71 μU/mL; 60 min: 953 μU/mL), suggesting severe insulin resistance. An insulin tolerance test confirmed that he had insulin resistance. There was no apparent hormonal or metabolic cause, including obesity. The patient had no outward features of hyperinsulinemia, including acanthosis nigricans or hirsutism. However, his mother and grandfather also had hyperinsulinemia. Genetic testing showed that the patient (proband), his mother, and his grandfather had a novel p.Val1086del heterozygous mutation in exon 17 of the insulin receptor gene (INSR). Although all three family members have the same mutation, their clinical courses have been different. The onset of the mother’s diabetes was estimated at 50 years, whereas the grandfather developed diabetes at 77 years.
Learning points
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Type A insulin resistance syndrome is caused by mutations in the insulin receptor (INSR) gene and results in severe insulin resistance.
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Genetic evaluation should be considered in adolescents or young adults with dysglycemia when an atypical phenotype, such as severe insulin resistance, or a relevant family history is observed.
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Clinical courses may differ even if the same genetic mutation is found in a family.
Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medicine, Takaramachi, Kanazawa, Japan
Department of Health Promotion and Medicine of the Future, Kanazawa University, Takaramachi, Kanazawa, Japan
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Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medicine, Takaramachi, Kanazawa, Japan
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Department of Health Promotion and Medicine of the Future, Kanazawa University, Takaramachi, Kanazawa, Japan
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Department of Health Promotion and Medicine of the Future, Kanazawa University, Takaramachi, Kanazawa, Japan
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Department of Health Promotion and Medicine of the Future, Kanazawa University, Takaramachi, Kanazawa, Japan
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Summary
Fulminant type 1 diabetes (FT1D) is a subtype of diabetes characterized by rapid progression of β-cell destruction, hyperglycemia, and diabetic ketoacidosis (DKA). The pathogenesis of this disease remains unclear. However, viral infections, HLA genes, and immune checkpoint inhibitor use were reportedly involved in this disease. A 51-year-old Japanese man with no chronic medical condition was admitted to our hospital with complaints of nausea and vomiting. Cough, sore throat, nasal discharge, and diarrhea were not noted. He had a medical history of at least two influenza infections. His vaccination history was notable for receiving an inactive split influenza vaccine 12 days prior to developing these symptoms. He was diagnosed with DKA associated with FT1D. His HLA class II genotypes were nonsusceptible to FT1D, and he had a negative history of immune checkpoint inhibitor use. The destruction of the pancreas by cytotoxic T cells is reported to be involved in FT1D. Inactive split influenza vaccines do not directly activate cytotoxic T cells. However, these could activate the redifferentiation of memory CD8-positive T cells into cytotoxic T cells and induce FT1D, as this patient had a history of influenza infections.
Learning points
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Influenza split vaccination could cause fulminant type 1 diabetes (FT1D).
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The mechanism of influenza split vaccine-induced FT1D might be through the redifferentiation of CD8-positive memory T cells into cytotoxic T cells.
National Hospital Edgardo Rebagliati Martins, Lima, Peru
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Scientific Society of San Fernando, Lima, Peru
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Scientific Society of San Fernando, Lima, Peru
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Scientific Society of San Fernando, Lima, Peru
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Scientific Society of San Fernando, Lima, Peru
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National Hospital Edgardo Rebagliati Martins, Lima, Peru
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National Hospital Edgardo Rebagliati Martins, Lima, Peru
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National Hospital Edgardo Rebagliati Martins, Lima, Peru
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Summary
Doege–Potter syndromeis a paraneoplastic syndrome characterized by nonislet cell tumor hypoglycemia due to a solitary fibrous tumor, which produces insulin-like growth factor II. In this report, we present the case of a 67-year-old male with recurrent and refractory hypoglycemia due to DPS successfully treated with imatinib. He initially presented with neuroglycopenic symptoms and dyspnea secondary to a giant tumor in the left hemithorax, which was totally resected. During follow-up, 7 years later, he presented with thoracoabdominal tumor recurrence associated with severe hypoglycemia and underwent subtotal tumor resection, with a subsequent improvement of symptoms. The following year, he had a recurrence of his intra-abdominal tumor, which was unresectable, associated with severe hypoglycemia refractory to dextrose infusion and corticosteroids, thus receiving imatinib with a favorable response. The clinical presentation, diagnostic approach, progression of the disease, and response to treatment with imatinib in the management of a patient with large, recurrent, and unresectable mesenchymal tumors with insulin-like growth factor-2 secretion causing hypoglycemiahighlight the importance of this case report.
Learning points
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Doege–Potter syndrome (DPS) is a rare cause of tumoral hypoglycemia of non-pancreatic origin.
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Some malignant or benignant neoplasms have ectopic secretion of insulin-like growth factor-2.
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Total surgical removal is the principal treatment in patients with DPS.
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Tyrosine kinase inhibitors management in DPS may contribute to improved tumor control in patients with unresectable tumors and severe hypoglycemia.
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ANZAC Research Institute, University of Sydney, Sydney, New South Wales, Australia
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Summary
We report the successful delivery of a healthy baby after intracytoplasmic sperm injection (ICSI) with frozen-thawed autologous sperm, cryostored for 26 years, the longest successful autologous sperm cryostorage reported. Sperm was cryostored for a 15-year-old boy at the time of his cancer diagnosis. Semen samples were frozen with cryoprotectant, using a graduated vapour-phase nitrogen protocol. Straws were stored in a large vapour-phase nitrogen tank until transfer for use. The couple underwent a single ICSI–in vitro fertilisation procedure using the frozen-thawed sperm with a transfer of five fertilised embryos, resulting in the live birth of a healthy baby boy. This reinforces the importance of offering sperm cryopreservation to men who have not completed their family prior to gonadotoxic treatment for cancer or other diseases. As practical, low-cost fertility insurance, it should be offered to any young man who can collect semen and it provides essentially unlimited duration of fertility preservation.
Learning points
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Gonadotoxic chemo or radiotherapy treatment for cancer or other diseases usually causes temporary or permanent male infertility.
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Sperm cryostorage serves as a practical, low-cost insurance to facilitate future paternity.
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All men who have not completed their families and are scheduled for gonadotoxic treatments should be offered sperm cryostorage.
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There is no lower age limit for young men who can collect semen.
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Sperm cryostorage offers essentially indefinite duration for the preservation of male fertility.
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Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
Tanzania Human Genetics Organization, Dar es Salaam, Tanzania
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Summary
Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1 gene a variable phenotype ranging from mild to severe is seen, including adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus and infertility. We report the clinical, endocrinological and genetic characteristics of a patient with 46,XY DSD with a novel likely pathogenic missense variant in the NR5A1 gene. A retrospective evaluation of the medical history, physical examination, limited endocrinological laboratory analysis and genetic analysis with DSD gene panel testing was performed. A 1.5-month-old individual was referred with ambiguous genitalia. The karyotype was 46,XY. The endocrinological analyses were within normal male reference including a normal response of cortisol within an adrenocorticotropic hormone test. A novel heterozygous missense variant c.206G>C p.(Arg69Pro) in the NR5A1 gene was detected. This variant was present in mosaic form (~20%) in his unaffected father. Because another missense variant at the same position and other missense variants involving the same highly conserved codon have been reported, we consider this NR5A1 variant in this 46,XY DSD patient as likely pathogenic in accordance with the ACMG/AMP 2015 guidelines causing ambiguous genitalia but no adrenal insufficiency. This variant was inherited from the apparently unaffected mosaic father, which might have implications for the recurrence risk in this family.
Learning points
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The importance of performing trio (patient and parents) sequencing is crucial in pointing out the origin of inheritance.
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In a 46,XY differences of sex development patient, a normal adrenal function does not rule out an NR5A1 mutation.
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With the support of a dedicated overseas institute partnership, we could solve this complex clinical case by molecular diagnosis in a resource-limited setting.
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Summary
Multiple research studies address the anti-insulinemic effect of growth hormone (GH). We report a case of a patient with anterior hypopituitarism on GH replacement who later developed type 1 diabetes mellitus (T1DM). Recombinant human growth hormone (rhGH) therapy was discontinued at the time of growth completion. Because of significantly improved glycemic control, this patient was weaned off subcutaneous insulin. He regressed from stage 3 to stage 2 T1DM and remained in this status for at least 2 years and until the writing of this paper. The diagnosis of T1DM was established based on relatively low C-peptide and insulin levels for the degree of hyperglycemia as well as seropositivity of zinc transporter antibody and islet antigen-2 antibody. Additional laboratory data obtained 2 months after discontinuing rhGH revealed improved endogenous insulin secretion. This case report calls attention to the diabetogenic effect of GH therapy in the setting of T1DM. It also demonstrates the possibility of regression from stage 3 T1DM requiring insulin therapy to stage 2 T1DM with asymptomatic dysglycemia after discontinuing rhGH.
Learning points
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Given the diabetogenic effect of growth hormone, blood glucose levels should be monitored in patients with type 1 diabetes mellitus (T1DM) on insulin therapy and recombinant human growth hormone (rhGH) replacement.
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Clinicians should closely monitor for risk of hypoglycemia after discontinuing rhGH among T1DM patients who are on insulin treatment.
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The discontinuation of rhGH in the setting of T1DM may cause regression of symptomatic T1DM to asymptomatic dysglycemia requiring no insulin treatment.
Theodor-Billroth-Academy®, Munich – Sacramento, CA, Germany, USA
INCORE, International Consortium of Research Excellence of the Theodor-Billroth-Academy®, Germany, USA
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UOC of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria di Modena, Ospedale Civile di Baggiovara, Modena, Italy
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INCORE, International Consortium of Research Excellence of the Theodor-Billroth-Academy®, Germany, USA
Department of Surgery, Carl-Thiem-Klinikum, Cottbus, Germany
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Summary
A 44-year-old athletic man presented in 2009 with severe low back pain. Dual-energy x-ray absorptiometry revealed severe osteoporosis; serum testosterone was 189 ng/dL while serum estradiol (E2) measured by liquid chromatography/mass spectrometry was 8 pg/mL. DNA was extracted and sequenced from a blood sample from the patient since his maternal first cousin also had low bone mass and both patients were screened for aromatase dysfunction by PCR analysis for the CYP19A1 gene, which encodes aromatase. No known pathologic mutations were observed in the coding exons, but novel single nucleotide polymorphisms were detected both in the proband and in his cousin. Treatment with topical testosterone started in August 2010. Over the next 8 years, testosterone dosage was varied and switched from topical gel to injections and maintained on depo-injections of testosterone at about 60 mg once per week. Re-examination in March 2012 included a brain MRI to exclude pituitary lesions; hyperparathyroidism was ruled out (normal serum parathyroid hormone, calcium, and calcium to phosphorous ratio) and celiac disease was excluded (negative transglutaminase antibodies). Follow-up in October 2018 showed improved bone mineral density of the lumbar spine by 29% and of the left femoral hip by 15% compared to baseline measurements. This reveals the importance of measuring serum E2 for making the correct diagnosis, as well as for monitoring a therapeutic effect. Herein, we propose treatment of male osteoporosis where serum E2 levels are below about 20 pg/mL with testosterone to reverse osteoporosis.
Learning points
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Estrogen deficiency in the diagnosis of male idiopathic osteoporosis.
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Importance of serum estradiol in male osteoporosis.
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Role of polymorphisms in aromatase gene on bone health.
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Reversal of osteoporosis.
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Tailored testosterone treatment for bone health.
Search for other papers by Ekaterina Kim in
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Summary
A 59-year-old male presented with an accidental thyroid mass in 2022. Ultrasound and CT scan showed a nodule 5.2 × 4.9 × 2.8 cm (EU-TIRADS 4) in the right lobe of the thyroid gland. Taking into account the results of the fine needle aspiration biopsy (Bethesda V), intrathyroid localization, and absence of clinical symptoms, a malignant tumor of the thyroid gland was suspected. The patient underwent total thyroidectomy using fluorescence angiography with indocyanine green, and two pairs of intact parathyroid glands were visualized in typical localization. Unexpected histological and immunohistochemistry examinations revealed parathyroid carcinoma. Due to the asymptomatic course of the disease and atypical localization of parathyroid tumor, primary hyperparathyroidism was not suspected before the surgery. The diagnosis of asymptomatic intrathyroid parathyroid cancer is a serious diagnostic challenge for a wide range of specialists.
Learning points
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Parathyroid cancer is a rare disease that may be asymptomatic.
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Intrathyroidal localization of parathyroid carcinoma is casuistic and challenging for diagnosis, and the treatment strategy is not well defined.
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Preoperative parathyroid hormone and serum calcium testing are recommended for patients with solid thyroid nodules (Bethesda IV–V).