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Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, a cystine transporter protein, leading to tissue damage, primarily in the kidney and cornea. With the introduction of cystine-depleting therapy with cysteamine and the possibility to survive to adulthood, new challenges of skeletal complications are a concern, with sparse data available regarding bone development. The aim of the current study was to gain more information on bone density and geometry in these patients. Fifty-one patients (29 males, 22 females) with genetically-proven nephropathic cystinosis were clinically evaluated with a medical history, physical examination, grip strength measurements, biochemical and imaging studies. Bone mineral density, bone geometry and muscle cross sectional area were measured, and muscle was evaluated. Results were compared with age- and gender-specific reference data. Z-scores for height (mean [M] = -1.75, standard deviation [SD] = 1.43), weight (M = -1.67, SD = 1.29), and BMI (M = -0.98, SD = 1.29) were lower than reference data. Medullary cross-sectional area (CSA) and cortical density z-scores were not compromised (M = 0.12, SD = 1.56 and M = -0.25, SD = 1.63, respectively), but cortical CSA z-scores and Strength-Strain Index (SSI) were reduced (M = -2.16, SD = 1.08, M = -2.07, SD = 1.08). Muscular deficits were reflected by reduced z-scores for muscle CSA (M = -2.43, SD = 1.27) and grip strength (M = -3.01, SD = 1.10), along with jump force (34% lower than reference value). Multiple regression analyses indicated an association of muscle mass with medullary CSA and SSI, but not with cortical CSA. While bone density parameters were normal, bone geometry was altered, resulting in a thinner cortex with possible impact on bone strength. Muscle weakness be partially responsible for altered bone geometry and could provide a potential treatment target.
Nephropathic cystinosis is a rare lysosomal storage disease affecting primarily the kidney and cornea. With new treatment options patients survive to adulthood and challenges like bone development and fracture risk become a matter of concern. In this study we investigated bone density, bone geometry and muscle mass and function using peripheral quantitative computed tomography. We included 51 patients with genetically-proven cystinosis at an age between 6.639.6 years. Beside height impairment and low body weight patients had a thinner bone cortex leading to a reduced stressstrain index. This index represents the resistance of bone against torsional load and, therefore, is considered to be a good marker of bone strength: with low values fracture risk might increase. Further patients had lower muscle mass and muscle function, the latter evaluated by grip strength and jump force. Looking for the interaction of muscle and bone multiple regression analyses indicated an association of muscle mass with strength strain index. The muscle weakness might be partially responsible for altered bone geometry and lower bone strength and is possibly a treatment target, which has to be investigated in the future.
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Turner's syndrome (TS) is a sex chromosome disorder caused by a partial loss, complete absence or structural abnormality of one X chromosome in females. Special ocular features are often found. Some of the abnormalities are only cosmetic, such as the abnormalities of the eyelashes. The present prospective study with 12 TS and 12 control patients demonstrates the higher number of eyelashes as well as the greater vertical distance between the roots of the eyelashes in patients with TS compared with the control group. Increased awareness of this ophthalmological abnormality could be an additional diagnostic tool for early clinical suspicion of TS diagnosis.
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OBJECTIVE: Patients with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement, including stress dosing (SD). This study prospectively assessed adrenal crisis (AC) incidence, frequency, and details of SD and disease knowledge in adult and paediatric patients and their parents. DESIGN: Prospective, observational study. METHODS: Data on AC and SD were collected via a patient diary. In case of AC, medical records were reviewed and patient interviews conducted. Adherence to sick day rules of the German Society of Endocrinology (DGE) and disease knowledge using the German version of the CAH knowledge assessment questionnaire (CAHKAQ) were assessed. RESULTS: In 187 adult patients, the AC incidence was 8.4 per 100 patient years (py) and 5.1 in 100â py in 38 children. In adults, 195.4 SD episodes per 100â py were recorded, in children 169.7 per 100â py. In children 72.3% and in adults 34.8%, SD was performed according to the recommendations. Children scored higher on the CAHKAQ than adults (18.0 [1.0] vs 16.0 [4.0]; P = .001). In adults, there was a positive correlation of the frequency of SD and the incidence of AC (r = .235, P = .011) and CAHKAQ score (r = .233, P = .014), and between the incidence of AC and CAHKAQ (r = .193, P = .026). CONCLUSION: The AC incidence and frequency of SD in children and adults with CAH are high. In contrast to the paediatric cohort, the majority of SD in adults was not in accordance with the DGE recommendations, underlining the need for structured and repeated education of patients with particular focus on transition.
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Hiperplasia Suprarrenal Congénita , Insuficiencia Suprarrenal , Adulto , Niño , Humanos , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/complicaciones , Estudios Prospectivos , Insuficiencia Suprarrenal/epidemiología , Insuficiencia Suprarrenal/etiología , Glucocorticoides/uso terapéutico , Enfermedad AgudaRESUMEN
OBJECTIVES: The most suitable biochemical markers for therapy adjustment in patients with congenital adrenal hyperplasia are controversial. 11-Oxygenated androgens are a promising new approach. The objective of this study was to investigate the diurnal rhythm of 11-ketotestosterone in children and adolescents in saliva and to correlate it with salivary 17-hydroxyprogesterone. METHODS: Fifty-one samples of steroid day-profiles from 17 patients were additionally analysed for 11-ketotestosterone, retrospectively. All patients were treated in our university outpatient clinic for paediatric endocrinology between 2020 and 2022. Steroid day-profiles of 17 patients could be examined. The cohort showed a balanced sex ratio. The median age was 13 years. The measurements for 17-hydroxyprogesterone were carried out during routine care by immunoassay. The measurements of 11-ketotestosterone were performed from frozen saliva samples using an implemented in-house protocol for liquid chromatography-tandem mass spectrometry (LC-MS/MS). The most important outcome were the absolute values for 11-ketotestosterone, their diurnal rhythmicity and the correlation with 17-hydroxyprogesterone. RESULTS: Both steroids show a circadian diurnal rhythm. 17-hydroxyprogesterone and 11-ketotestosterone correlate significantly. 11-Ketotestosterone showed a positive correlation with BMI at all times of the day. CONCLUSIONS: 11-Ketotestosterone shows circadian rhythmicity in our cohort and correlates with 17-hydroxyprogesterone. These findings serve as an important basis for prospective research into 11-oxygenated androgens as therapeutic markers in paediatrics. However, 11-ketotestosterone appears to be very dependent on BMI.
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17-alfa-Hidroxiprogesterona , Hiperplasia Suprarrenal Congénita , Ritmo Circadiano , Saliva , Testosterona , Testosterona/análogos & derivados , Humanos , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/metabolismo , Femenino , Saliva/química , Saliva/metabolismo , 17-alfa-Hidroxiprogesterona/análisis , 17-alfa-Hidroxiprogesterona/metabolismo , Masculino , Adolescente , Niño , Testosterona/análisis , Testosterona/metabolismo , Estudios Retrospectivos , Biomarcadores/análisis , Biomarcadores/metabolismo , Pronóstico , Estudios de Seguimiento , Preescolar , Espectrometría de Masas en TándemAsunto(s)
Hiperplasia Suprarrenal Congénita , Automonitorización de la Glucosa Sanguínea , Glucemia , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Hiperplasia Suprarrenal Congénita/sangre , Hiperplasia Suprarrenal Congénita/diagnóstico , Glucemia/análisis , Glucemia/metabolismo , Automonitorización de la Glucosa Sanguínea/métodos , Monitoreo Continuo de Glucosa , Hipoglucemia/sangre , Hipoglucemia/diagnósticoRESUMEN
OBJECTIVES: Children with classical congenital adrenal hyperplasia (CAH) require glucocorticoid (GC) substitution due to impaired cortisol synthesis. To avoid over- or undertreatment, one has to consider auxology as well as biochemical parameters for adrenal derived steroids like androstenedione (A4) and 17-hydroxyprogesterone (17-OHP). There are no established reference values for A4 and 17-OHP in CAH. METHODS: We performed a retrospective study in 53 prepubertal patients with CAH. Datasets of patients were included if the plasma A4 values of the respective clinical visit were under the limit of quantification. Related 17-OHP values were extracted as well as height/length, weight, dose of hydrocortisone, HC regimen, bone age and stages of pubertal development. RESULTS: Median hydrocortisone doses were in most observations within the recommended reference ranges. Hydrocortisone has a significant negative influence on 17-OHP values and HSDS. Age has a positive significant influence on 17-OHP, BMI-SDS, and HSDS. Median height standard-deviation-score (HSDS) was beneath 0 at all times, but showed an increasing trend in both sexes. Median body mass index standard-deviation-score (BMI-SDS) was above 0 at all times and showed an increasing trend as well. CONCLUSIONS: With guideline-compliant doses of hydrocortisone, suppression of A4 at the respective time of day is possible in prepubertal children. Although HC has a significant negative influence on HSDS, increasing values for HSDS and HC are observed with increasing age. Thus, A4 suppression at the respective time point does not hinder regular growth. An increase in body mass index can already be observed as early as in prepuberty.
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Objective: Patients with congenital adrenal hyperplasia (CAH) require lifelong therapy with glucocorticoids to suppress androgen excess and substitute for deficient cortisol. An important aspect of care is the prevention of metabolic sequelae. In infants, potentially lethal nocturnal hypoglycaemia has been described. In adolescence, visceral obesity, hypertension, hyperinsulinism and insulin resistance are reported. To date, systematic studies of glucose profiles in this age group with CAH are lacking. Methods: This was a monocentric, prospective, observational study to determine the glucose profiles under different treatment regimens in a cohort of young patients with CAH. The continuous glucose monitoring device used was the latest generation FreeStyle Libre 3® sensor in blinded mode. Therapeutic and auxological data were obtained. Results: The cohort consisted of 10 children/adolescents with a mean age of 11 years. Three patients exhibited morning fasting hyperglycaemia. Overall, 6 out of 10 patients had unacceptably few total values in the desired range of 70-120 mg/dL. Tissue glucose values above 140-180 mg/dL were found in 5 of 10 patients. The mean value for glycosylated haemoglobin for the cohort was of 5.8%. All pubertal adolescents with reverse circadian regimens had significantly higher glucose levels at night. Two adolescents showed asymptomatic nocturnal hypoglycaemia. Conclusion: Most of the patients exhibited abnormalities in glucose metabolism. Two-thirds had elevated total 24h glucose values outside the age-appropriate reference values. Thus, this aspect may need to be addressed early in life by adjusting the doses, treatment regimen or dietary measures. Consequently, reverse circadian therapy regimens should be critically indicated and closely monitored due to the potential metabolic risk.
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Hiperplasia Suprarrenal Congénita , Hipoglucemia , Lactante , Humanos , Niño , Adolescente , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/complicaciones , Glucemia , Estudios Prospectivos , Automonitorización de la Glucosa Sanguínea , Hidrocortisona , Hipoglucemia/complicaciones , Glucosa/uso terapéuticoRESUMEN
BACKGROUND: Glucocorticoids are crucial components of the treatment of leukemia and lymphoma. High doses can lead to suppression of the hypothalamic-pituitary-adrenal (HPA) axis and be causative for an impaired stress response during infection. This study aims to evaluate the cortisol response in pediatric oncologic patients during febrile episodes. METHODS: Totally, 75 children and adolescents (5 months-18 years) with fever during chemotherapy were consecutively enrolled in this study. In total, 47 patients received glucocorticoids as part of their treatment. Random serum cortisol and adrenocorticotropic hormone (ACTH) were analyzed in every patient. A low cortisol response (LCR) was defined as a cortisol level < 14.6 µg/dL. RESULTS: In total, 52 (69%) patients had a cortisol level < 14.6 µg/dL during fever. There was no significant difference between patients who received glucocorticoids and those who did not. Significantly lower cortisol levels were measured ≤7 days after last glucocorticoid intake compared to later time points. Nearly all patients treated with dexamethasone or prophylactic posaconazole demonstrated a LCR under stress (fever). CONCLUSION: The incidence of an impaired HPA axis in pediatric cancer patients might be underestimated since 69% of the children in our study had a LCR during fever. Intake of dexamethasone, posaconazole and a time period of ≤7 days from the last glucocorticoid intake were additional risk factors for an LCR. However, we could not confirm that patients with a LCR fared worse than patients with a high cortisol response (HCR). Therefore, a different cortisol threshold may be necessary for defining an impaired HPA axis in febrile oncologic patients without concomitant symptoms of AI.
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Hidrocortisona , Neoplasias , Adolescente , Humanos , Niño , Glucocorticoides/efectos adversos , Dexametasona/efectos adversos , Sistema Hipotálamo-Hipofisario/fisiología , Estudios Prospectivos , Sistema Hipófiso-Suprarrenal , Neoplasias/complicaciones , Neoplasias/tratamiento farmacológicoRESUMEN
INTRODUCTION: Children with classical congenital adrenal hyperplasia (CAH) have an impaired steroid synthesis due to 21-hydroxylase dysfunction and require glucocorticoid replacement. Therapy management in children and adolescent is based on auxological, clinical, and laboratory monitoring. The measurement of steroid precursors in saliva is particularly suitable for patients in pediatric endocrinology. METHODS: In this retrospective and longitudinal study of 22 patients with CAH, we analyzed 546 saliva samples for 17-hydroxyprogesterone (s17-OHP) in prepubertal/pubertal patients. Additionally, we correlated them with auxological parameters such as delta-height standard deviation score. RESULTS: We analyzed a median observation period of 5.5 years per patient. No precocious pubertal development, abnormal vital signs, or Addison crises occurred. 57.1% of the samples were collected in prepubertal children. 72.5% of s17-OHP values were attributed to normal auxological development. In the total cohort, the median values for s17-OHP were 67.8 pg/mL (morning), 42.5 pg/mL (noon), and 25.0 pg/mL (evening). The difference in values between the group of normal/abnormal growing patients and between prepubertal/pubertal patients was not significant. DISCUSSION/CONCLUSION: The measurement of s17-OHP is an important sub-aspect in the overall assessment of treatment response in CAH. It can provide an indication of over-/undertreatment and allows the assessment of day profiles, especially in phases of changing (e.g., puberty) steroid requirements. We present here observational data from a larger cohort with longitudinal multiple measurements of s17-OHP. The values do not allow a significant differentiation between normal and abnormal growth or pubertal status. Thus, relying solely on s17-OHP is not advisable.
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Hiperplasia Suprarrenal Congénita , Adolescente , Niño , Humanos , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , 17-alfa-Hidroxiprogesterona , Estudios Retrospectivos , Estudios Longitudinales , EsteroidesRESUMEN
We present a 9-year-old boy with diabetes insipidus. The boy is treated with desmopressin (DDAVP) therapy. Under this therapy, the drinking quantity and the laboratory parameters were normal. No nocturia occurred any more. In the context of a clinically mild infection with SARS-CoV-2, the duration of action of DDAVP was significantly prolonged (approximately +50%). The original dosage was then reintroduced and was still sufficient until months later. A possible connection to the infection with SARS-CoV-2 can be suspected. Our case report should make physicians who care for patients with diabetes insipidus aware of such a possible prolongation of the effect of DDAVP. More frequent monitoring may be needed in such patients to assess the risk of symptomatic dilutional hyponatremia.
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Tratamiento Farmacológico de COVID-19 , COVID-19 , Diabetes Insípida Neurogénica , Diabetes Insípida , Diabetes Mellitus , Masculino , Humanos , Niño , Desamino Arginina Vasopresina/uso terapéutico , Diabetes Insípida Neurogénica/tratamiento farmacológico , SARS-CoV-2 , Semivida , COVID-19/complicaciones , Diabetes Insípida/tratamiento farmacológico , Diabetes Mellitus/inducido químicamenteRESUMEN
OBJECTIVES: Consumptive hypothyroidism may occur in hepatic hemangioendothelioma. The altered expression of deiodinases inactivates peripheral thyroid hormones. As a result, serum levels of free triiodothyronine and free thyroxine are reduced to varying degrees. There are no established recommendations for the dosage of sirolimus for this particular indication. We describe for the first time the course of treatment with low-dose sirolimus. CASE PRESENTATION: We present a 5-week-old infant with hepatic hemangioendothelioma and severe consumptive hypothyroidism. Due to hepatic infiltration he showed signs of right heart strain. Therapy of hemangioendothelioma was initiated with propranolol and, in the absence of response, methylprednisolone was added. Treatment was continued with low-dose sirolimus (due to side effects) and propranolol. Hypothyroidism was managed with levothyroxine and liothyronine. CONCLUSIONS: Consumptive hypothyroidism due to cutaneous hemangioma and hepatic hemangioendothelioma can be managed with propranolol and low-dose sirolimus. Treatment of severe hypothyroidism may require a combinational therapy by substitution of both T3 and T4.
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Hemangioendotelioma , Hipotiroidismo , Neoplasias Hepáticas , Lactante , Masculino , Humanos , Propranolol/uso terapéutico , Neoplasias Hepáticas/complicaciones , Hipotiroidismo/complicaciones , Hipotiroidismo/tratamiento farmacológico , Tiroxina , Hemangioendotelioma/complicaciones , Hemangioendotelioma/tratamiento farmacológico , Triyodotironina , Hormonas Tiroideas/uso terapéutico , Sirolimus/uso terapéuticoRESUMEN
INTRODUCTION: The occurrence of ectopic prostate tissue in the female genital tract is rare and has only been described sporadically. The origin of these lesions is unclear, but their appearance seems to be associated with various forms of androgen excess, including androgen therapy for transgender treatment or disorders of sex development, such as classic congenital adrenal hyperplasia (CAH). This is the first described case of ectopic prostate tissue in the cervix uteri of a 46,XX patient with a confirmed diagnosis of non-classic CAH due to 21-OHD and a history of mild adrenal androgen excess. CASE PRESENTATION: We describe a 34-year-old patient with a genetic diagnosis of non-classic CAH due to 21-hydroxylase deficiency (21-OHD) with a female karyo- and phenotype and a history of mild adrenal androgen excess. Due to dysplasia in the cervical smear, conization had to be performed, revealing ectopic prostate tissue in the cervix uteri of the patient. CONCLUSIONS: An association between androgen excess and the occurrence of prostate tissue is likely and should therefore be considered as a differential diagnosis for atypical tissue in the female genital tract.
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Thyroid-stimulating hormone is generally regarded as a standard parameter for the evaluation of thyroid function. However, relying on this hormone alone can be misleading. Therefore, thyroxine/free-thyroxine levels are used in patients with levothyroxine substitution for the adjustment of therapy. Even with normal values for free thyroxine, decreased values for the free-triiodothyronine/free-thyroxine ratio have already been described in adults. In this study, the free-triiodothyronine/free-thyroxine ratio of 25 children with congenital hypothyroidism was compared with 470 healthy children seen for other reasons and then for thyroid dysfunction. Mean free thyroxine in congenital hypothyroidism was just below the upper limit of normal and significantly higher than in control group. Mean values for free triiodothyronine showed no significant difference between the two groups. The mean value for the free triiodothyronine/free-thyroxine ratio in control group was 3.23. Significantly lower ratios were found in the congenital hypothyroidism group with a mean value of 2.5, due to higher values for free thyroxine compared to free triiodothyronine. Furthermore, an increased free triiodothyronine/free-thyroxine ratio was found at higher thyroid-stimulating hormone values due to lower values for free thyroxine. In this study, we demonstrate that the free triiodothyronine/free-thyroxine ratio was significantly lower in children with congenital hypothyroidism compared to the control group. This is most likely due to the higher values for free thyroxine in this group compared to similar values for free triiodothyronine in both groups. Further studies with differentiated thyroid hormone therapy are needed in order to understand the role of peripheral euthyroidism.
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OBJECTIVES: Children with salt-wasting congenital adrenal hyperplasia (CAH) have an impaired function of steroid synthesis pathways. They require therapy with glucocorticoid (GC) and mineralocorticoid hormones to avoid salt-wasting crisis and other complications. Most commonly, children receive hydrocortisone thrice daily with the highest dose in the morning, mimicking the regular physiology. However, reverse circadian treatment (RCT) had been suggested previously. In this study, we aimed to determine the efficacy of RCT in prepubertal children with CAH by comparing the salivary 17-hydroxyprogesterone (s17-OHP) levels individually. METHODS: In this retrospective study, we analyzed the records of children with classical CAH and RCT who were monitored by s17-OHP levels. The study included 23 patients. We identified nine prepubertal children with RCT schemes (three boys and six girls) and compared the s17-OHP levels in the morning, afternoon, and evening. The objective of this study was to demonstrate the non-effectiveness of RCT in terms of lowering the morning s17-OHP concentration. In addition, we compared s17-OHP day profiles in six patients on RCT and non-RCT therapy (intraindividually). RESULTS: Eight of nine children with RCT showed higher s17-OHP levels in the morning compared to the evening. In addition, none of the children showed a significant deviation of development. Three children were overweight. No adrenal crisis or pubertal development occurred. Comparison of RCT and non-RCT regimens showed no difference in 17-OHP profiles. CONCLUSIONS: Our data do not support the use of RCT schemes for GC replacement in children with CAH due to lack of benefits and unknown long-term risks.
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17-alfa-Hidroxiprogesterona/sangre , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Biomarcadores/sangre , Ritmo Circadiano , Glucocorticoides/administración & dosificación , Hiperplasia Suprarrenal Congénita/sangre , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Pronóstico , Estudios RetrospectivosRESUMEN
CONTEXT: Several studies have highlighted the importance of the 11-oxygenated 19-carbon (11oxC19) adrenal-derived steroids as potential biomarkers for monitoring patients with 21-hydroxylase deficiency (21OHD). OBJECTIVE: To analyze circadian rhythmicity of 11oxC19 steroids in saliva profiles and evaluate their relevance as potential monitoring parameters in 21OHD. DESIGN, SETTING, AND PARTICIPANTS: Cross-sectional single-center study including 59 patients with classic 21OHD (menâ =â 30; womenâ =â 29) and 49 body mass index- and age-matched controls (menâ =â 19; womenâ =â 30). OUTCOME MEASURES: Salivary concentrations of the following steroids were analyzed by liquid chromatography-tandem mass spectrometry: 17-hydroxyprogesterone (17OHP), androstenedione (A4), testosterone (T), 11ß-hydroxyandrostenedione (11OHA4), and 11-ketotestosterone (11KT). RESULTS: Similar to the previously described rhythmicity of 17OHP, 11OHA4 and 11KT concentrations followed a distinct diurnal rhythm in both patients and controls with highest concentrations in the early morning and declining throughout the day (11-OHA4: mean reduction of hormone concentrations between timepoint 1 and 5 (Δâmean) in male patientsâ =â 66%; male controls Δâmeanâ =â 83%; female patients Δâmeanâ =â 47%; female controls Δâmeanâ =â 86%; 11KT: male patients Δâmeanâ =â 57%; male controls Δâmeanâ =â 63%; female patients Δâmeanâ =â 50%; female controls Δâmeanâ =â 76%). Significant correlations between the area under the curve for 17OHP and 11KT (rpmaleâ =â 0.773<0.0001; rpfemaleâ =â 0.737<0.0001), and 11OHA4 (rpmaleâ =â 0.6330.0002; rpfemaleâ =â 0.5640.0014) were observed in patients but not present or reduced in controls. CONCLUSIONS: Adrenal 11oxC19 androgens are secreted following a diurnal pattern. This should be considered when evaluating their utility for monitoring treatment control.
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Hiperplasia Suprarrenal Congénita/metabolismo , Andrógenos/análisis , Ritmo Circadiano/fisiología , Saliva/química , 17-alfa-Hidroxiprogesterona/análisis , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Adulto , Andrógenos/metabolismo , Androstenodiona/análogos & derivados , Androstenodiona/análisis , Biomarcadores/análisis , Estudios Transversales , Femenino , Humanos , Masculino , Testosterona/análogos & derivados , Testosterona/análisisRESUMEN
Tuberculosis (TB) epidemiology is changing in Western and Central Europe due to the rise in immigration and refugees fleeing high-TB-burden areas of war and devastation. The change in local demography and the lack of sensitive and specific TB diagnostic and monitoring tools, especially for cases of childhood TB, leads to either missed cases or over-treatment of this group. Here we present a promising new diagnostic approach, the T cell activation marker (TAM)-TB assay, and its performance in a case of extra-pulmonary TB occurring in a 16 year old refugee from Afghanistan. This assay is based on the characterization of 3 activation markers (CD38, HLA-DR, and Ki67) and one maturation marker (CD27) on M. tuberculosis-specific CD4 T cells. It was performed at time-points T0 (10 days), T1 (1 month), T2 (6 months), and T3 (12 months) post-treatment initiation. All markers were able to detect active tuberculosis (aTB) within this patient at T0 and reverted to a healthy/LTBI phenotype at the end of treatment. Tantalizingly, there was a clear trend toward the healthy/LTBI phenotype for the markers at T1 and T2, indicating a potential role in monitoring anti-TB treatment in the future. This assay may therefore contribute to improved TB diagnostic algorithms and TB treatment monitoring, potentially allowing for individualization of TB treatment duration in the future.