Patient Demographics > Age > Adolescent/young adult
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Search for other papers by Yuko Kiyohara in
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Search for other papers by Yuya Tsurutani in
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Summary
Fibromuscular dysplasia can cause renovascular hypertension. Since fibromuscular dysplasia may be underdiagnosed, precise diagnosis and management are crucial, especially for young women. A 20-year-old woman with hypertension and hypokalemia was referred to our hospital for further evaluation of secondary hypertension. At the previous hospital, her blood pressure was 160/110 mmHg and the serum potassium level was 2.9 mEq/L. The equilibrium phase on contrast-enhanced computed tomography revealed a low-density area in the upper median portion of the right kidney. On admission to our hospital, her blood pressure was 141/96 mmHg under 5 mg of amlodipine. Laboratory tests revealed plasma renin activity of 11.3 ng/mL/h and plasma aldosterone concentration of 117.1 pg/mL. Renal venous sampling of active renin concentration showed a right-to-left renin ratio of 3.13, confirming a significant increase in renin secretion from the right kidney. Selective reno-angiography detected focal stenosis with adjacent aneurysmal dilation and tortuosity in the proximal branch of the right renal artery. She was diagnosed with branch artery fibromuscular dysplasia and successfully treated with percutaneous transluminal angioplasty. After the treatment, she was free from hypertension and hypokalemia without any medications. Since branch artery fibromuscular dysplasia is sometimes difficult to diagnose, contrast-enhanced computed tomography can be a promising diagnostic tool as shown in this case. Concerning treatment, our patient was treated with percutaneous transluminal angioplasty, which should be considered for women of reproductive age because recommended antihypertensive medications can be teratogenic even in the first trimester of pregnancy.
Learning points
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Although branch artery fibromuscular dysplasia (FMD) is sometimes difficult to diagnose, it should be considered in patients with high-renin, high-aldosterone hypertension.
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Branch artery FMD can present with a low-density area of the kidney on contrast-enhanced computed tomography, as shown in this case.
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Percutaneous transluminal angioplasty (PTA) can be an appropriate treatment for branch artery FMD, especially in young female patients.
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PTA may immediately improve hypertension and hypokalemia without the need for medications.
Search for other papers by Geoffrey Chek Fei Yu in
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Search for other papers by Joanna Yuet-ling Tung in
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Summary
17α-hydroxylase deficiency (17α-OHD) is a rare form of congenital adrenal hyperplasia. We report the case of a teenage girl with 17α-OHD who presented with delayed puberty, hypergonadotropic hypogonadism and hypertension. We illustrate the clinical approach in workup, the subsequent management and monitoring of this rare condition.
Learning points
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17α-hydroxylase deficiency (17α-OHD) should be considered as a rare yet important differential diagnosis of girls with delayed puberty and elevated gonadotropins.
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Urine steroid profile, plasma aldosterone and renin levels should be assessed in adolescent girls with hypergonadotropic hypogonadism, after the exclusion of more common conditions, e.g. Turner syndrome.
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Inhibiting deoxycorticosterone (DOC) release by partial glucocorticoid replacement, counteracting DOC’s mineralocorticoid effects by antagonists (such as eplerenone or spironolactone) as well as sex hormone replacements constitute the major backbone in the management of 17α-OHD.
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Search for other papers by Mitsuhiro Kometani in
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Search for other papers by Shigehiro Karashima in
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Endocrine and Diabetes Center, Asanogawa General Hospital, Kanazawa, Japan
Search for other papers by Yoshiyu Takeda in
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Search for other papers by Takashi Yoneda in
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Summary
The COVID-19 pandemic has led to the emergence of telemedicine on a global scale. In endocrinology, telemedicine has mainly been used in relation to chronic diseases, including diabetes. Herein, we report the case of an 18-year-old woman with a hypertensive emergency due to a pheochromocytoma who was quickly diagnosed and treated using telemedicine. The patient was referred to a cardiovascular hospital because of fatigue and sweating that did not improve with carvedilol. She had fluctuating blood pressure and tachycardia. Subsequently, since her thyroid function was normal, endocrine hypertension not due to thyroid dysfunction was suspected; a case consultation was made by phone to our clinic. Plain computed tomography (CT) was recommended owing to the high possibility of a pheochromocytoma; the CT scan showed an adrenal tumor with a 30 mm diameter. To assess her condition, endocrinologists, together with the attending doctor, interviewed her and her family directly using an online tool to obtain detailed information. We thus determined that she was at risk of a pheochromocytoma crisis. She was transferred to our hospital immediately for treatment, was diagnosed with pheochromocytoma, and underwent surgery. Telemedicine, especially involving doctor-to-patient with doctor consultations, can be effective in treating rare and emergent medical conditions such as pheochromocytoma crisis.
Learning points
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Telemedicine can be used for chronic diseases and emergency conditions.
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Online doctor-to-patient with doctor (D-to-P with D) consultations are useful when the expert opinion of a highly specialized physician present in a different geographical location is required.
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Telemedicine, especially D-to-P with D online consultations, can be effectively used for the diagnosis of rare and emergent medical conditions, such as pheochromocytoma crisis.
Search for other papers by Sumeet Arora in
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Search for other papers by Olga Yeliosof in
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Search for other papers by Vivian L Chin in
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Summary
Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been described to cause KS. The ANOS1 (KAL1) gene is responsible for 8% of mutations causing KS. A 17-year-old male presented to our clinic with delayed puberty and hyposmia, along with a family history suggestive of hypogonadism in his maternal uncle. Genetic testing for KS revealed complete exon 3 deletion in the ANOS1 gene. To the best of our knowledge, this specific mutation has not been previously described in the literature.
Learning points
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Missense and frameshift mutations in the KAL1 or ANOS1 gene located in the X chromosome are responsible for 8% of all known genetic mutations of Kallmann syndrome.
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Exon 3 deletion is one of the ANOS1 gene is a novel mutation, not reported before.
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Targeted gene sequencing for hypogonadotropic hypogonadism can be employed based on the phenotypic presentation.
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.
Search for other papers by Micah A Fischer in
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Search for other papers by Salaheddin H Elrokhsi in
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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.
Search for other papers by Wenxin Zhang in
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Search for other papers by Wenqiong Xu in
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Summary
Immune checkpoint inhibitors (ICPis) are novel immunotherapy drugs for a variety of cancers. Toripalimab is one of the ICPis that selectively blocks programmed death 1 (PD-1) and has been used for the treatment of malignant cancers in the hospitals of China. But with the widespread use of ICPis, some of the adverse reactions have gradually appeared. One of the most serious side effects is diabetes mellitus which is a relatively rare immune-related adverse event (irAEs) with life-threatening complications. We report a case of diabetes after the administration of toripalimab for the treatment of melanoma in southern China. To our knowledge, this is a rare case of diabetes occurring during toripalimab therapy, there is only one similar case reported in China so far. As China has a high morbidity of malignant cancer, a significant number of patients could be affected by the adverse reactions of using ICPis. Therefore, when ICPis are administrated, it is very important for clinicians to pay attention to one of the serious side effects – diabetes mellitus. Insulin therapy is often necessary after the diagnosis of ICPis-related diabetes, which has been proved as an effective method to prevent diabetic ketoacidosis (DKA) and other life-threatening complications in these patients.
Learning points
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Toripalimab can cause the diabetes mellitus.
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ICPis-related diabetes is treated primarily with insulin.
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Immune checkpoint inhibitors cause diabetes by primarily destroying islet β cells.
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There is not enough evidence to demonstrate that diabetic autoantibodies are related to diabetes caused by ICPis.
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In addition to focusing on the efficacy of PD-1 inhibitor therapy, it is also necessary to pay attention to its adverse reactions, such as ICPis-related diabetes mellitus.
Search for other papers by João Felipe Queiroz in
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Search for other papers by Guido de Paula Colares Neto in
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Summary
We present an adolescent with X-linked hypophosphatemic rickets (XLH) with bone age advancement and its response to aromatase inhibitors (AIs). A male with XLH, confirmed with a deletion on the PHEX gene, received regular treatment since the first year of life with average growth velocity and height. He had bone age compatible with chronological age until 13 when he had a bone age advancement and a decrease in the predicted final height thought to be due to initiation of oral isotretinoin, which has been previously reported. Then, anastrozole was initiated and maintained concomitant to the rickets treatment for 2 years with bone age stabilization. He had no adverse effects or worsening of bone health markers. As a result, he maintained his height gain and improved his final height Z score compared with the predicted final height at initiating anastrozole. In conclusion, although AIs was a reasonable strategy to stabilize bone age and minimize height impairment, careful monitoring is mandatory to understand its benefits and effects on XLH patients.
Learning points
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Although X-linked hypophosphatemic rickets patients have normal puberty, they can be affected by metabolic and environmental factors that may advance their bone age and impair the predicted final height, similar to the general population.
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Isotretinoin may accelerate skeletal maturation during puberty in an adolescent with X-linked hypophosphatemic rickets.
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Aromatase inhibitors showed to be a reasonable strategy to stabilize bone age and minimize height impairment in an adolescent with X-linked hypophosphatemic rickets.
Search for other papers by Christine Hvolby Amanoal in
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Research Unit for Multimorbidity, Viborg Regional Hospital, Denmark
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Research Unit for Multimorbidity, Viborg Regional Hospital, Denmark
Department of Clinical Medicine, Aarhus University, Denmark
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Summary
Iron metabolism and markers hereof are altered in anorexia nervosa (AN) but far from completely understood. We report a case of extreme hyperferritinemia in a patient with AN and discuss the possible mechanisms and current knowledge about the association between hyperferritinemia and AN. A 20-year-old woman with a history of AN presented with bradycardia, weariness, and malaise in addition to an incidentally very high ferritin level. The symptoms disappeared spontaneously after a short admission. There were no signs suggestive of systemic, hematological, or malignant disease causing the very high concentration of ferritin. Her body weight was in decline, leading up to admission, but did initially increase after discharge accompanied by declining ferritin concentration. However, a clear association between ferritin dynamics and weight changes or physical activity was not identified and neither were other causes of the hyperferritinemia. Around one in four patients with AN have increased ferritin concentrations. Our case represents the highest ferritin concentration reported in a patient with AN without other underlying causes or comorbidities.
Learning points
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Perturbed iron metabolism is frequent in restrictive type anorexia nervosa but incompletely understood.
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Altered ferritin in anorexia nervosa may be linked to nutritional status.
Search for other papers by Jananie Suntharesan in
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Search for other papers by Senthil Senniappan in
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Summary
A male phenotype accompanied by a 45,X karyotype is rare. It may occur due to Y chromosomal translocation or insertion to X/autosome. Clinical presentation may vary depending on the presence of the Y chromosomal locus and the degree of loss of autosome material. 45,X males can present with short stature and Turner syndrome phenotype due to haploinsufficiency of genes which are normally expressed in both X and Y chromosomes. The presence of the sex-determining region Y (SRY) gene leads to the differentiation of bipotential gonads to testis. Most individuals go through puberty normally, but some may need pubertal induction for delayed puberty. Rarely some can have a pubertal arrest. The risk of gonadoblastoma is minimal in these individuals due to functioning testicular tissue. The azoospermia factor (AZF) region is found on the long arm of the Yq chromosome and is needed for spermatogenesis. In a 45,X male with unbalanced translocation of Y chromosome, spermatogenesis can be affected due to the lack of AZF leading to Sertoli cell-only syndrome. This will have an implication on fertility in adult life. We present a 14-year-old boy with developmental delay, learning difficulties and subtle dysmorphic features who was diagnosed with 45,X,der(2)t(Y:2)(?:p25). Fluorescence in situ hybridisation analysis revealed translocation of SRY (Yp11.3) to the terminal part of the short arm of chromosome 2 resulting in the deletion of most of the Y chromosome (Yp11.2-q12) and part of chromosome 2(2p25.3). This is the first case where SRY translocation to chromosome 2 presents with the above clinical presentation.
Learning points
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45,X karyotype is rare in male.
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It may occur due to SRY translocation or an insertion to X/autosome.
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SRY gene translocation to chromosome 2 has been not reported in the literature.
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Clinical presentation can be varied due to degree of loss of chromosomal material.
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Due to loss of AZF region found on the long arm of the Yq, spermatogenesis can be affected. Loss of 2p25 leads to learning difficulty and obesity.