Pediatric Endocrinology Department Research Articles

Frequency of C-peptide and antibody levels (anti GAD, Islet cell antibodies, insulin auto antibodies) in children of Pakistan with Type-1 diabetes

Background and Objective: The autoimmune mechanism in T1DM causes gradual loss of pancreatic β-cell, which progresses to hyperglycemia and ultimate reliance on consistent insulin therapy. T1DM has been the commonest type of diabetes in children and this study will help in refining indulgent towards the problem and its pathophysiology in our people. The objective was to find out the prevalence of C-peptide and antibody levels (anti GAD, ICA, IAA and IA2) in children and adolescents of Pakistan with T1DM. Methods: We conducted this cross-sectional study at Department of Pediatric Endocrinology, National Institute of Child Health, Karachi between August 2019 to February 2020 and included 98 children who had T1DM for more than one month. Subjects whose GFR was <30ml/min were omitted from the study. Among those registered subjects, C-peptide, human islet cell antibody (ICA), insulin auto antibodies (IAA) and anti-glutamic acid decarboxylase were assessed. Demographical and laboratorial facts were noted on a pre-constructed proforma. Results: There were 77(78.3%) cases who had level of C-peptide <0.8 and anti-GAD was found in 47(48%) subjects. 35(35.7%) cases found positive for IA2 .and 7(7.1%) patients had insulin auto antibodies positive while ICA was negative in total 98(100%) subjects. Conclusion: Children with T1 DM possessed increased levels of anti-GAD antibodies, insulin autoantibodies and anti (IA2) but islet cells antibodies were negligible in our population when checked at a point of time. C-peptide may be normal in some, but its level declines with long duration of diabetes in children. doi: https://doi.org/10.12669/pjms.40.6.7794 How to cite this: Riaz M, Akram M, Ibrahim MN, Khoso ZA. Frequency of C-peptide and antibody levels (anti GAD, Islet cell antibodies, insulin auto antibodies) in children of Pakistan with Type-1 diabetes. Pak J Med Sci. 2024;40(6):1083-1086. doi: https://doi.org/10.12669/pjms.40.6.7794 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Surgery preferences for thyroid diseases in childhood: review of the literature due to a case experience

The authors have yet to decide well about the requirement of thyroid surgery in childhood. There are reasons for this controversy. Some of these controversies are various diseases, differences in evaluations of the diseases, and various follow-ups. So, treatments in different institutions are most diverse. Surgeons must be precise for those who perform surgery in this age group. A 17-year-old girl whom the pediatric endocrinology department followed up for three years with a thyroid nodule diagnosis was operated on. Thyroid function tests were regular. In ultrasonography, a nodule in the left thyroid lobe was detected. The nodule had grown over the years and reached a size of 2x1.5x1.4 cm. Excision was planned when a definitive result could not be reached after three fine-needle aspiration biopsies were repeated in our hospital. Since the fine needle aspiration examinations were inconclusive, only a left lobectomy was performed. After pathology examination resulted in follicular carcinoma, right lobectomy with isthmectomy was added. As a result, a total thyroidectomy in 2-stage was performed. Because of this surgical course of the patient, it was decided to examine the surgical choices of thyroid diseases in children like Graves' disease and benign and malignant nodules. Literature was evaluated to understand if there is an algorithm for decision-making on pediatric thyroid surgery.

The value of luteinizing hormone basal values and sex hormone-binding globulin for early diagnosis of rapidly progressive central precocious puberty.

This study aimed to investigate the diagnostic value of luteinizing hormone (LH) basal values and sex hormone-binding globulin (SHBG) for rapidly progressive central precocious puberty (RP-CPP). A total of 121 girls presenting with secondary sexual characteristics were selected from the Department of Pediatric Endocrinology, Lianyungang Clinical Medical College of Nanjing Medical University, from May 2021 to June 2023. The children were followed up for 6 months and were divided into three groups: RP-CPP group (n=40), slowly progressive central precocious puberty (SP-CPP) group (n=40), and premature thelarche (PT) group (n=41). The differences in LH basal values and SHBG among girls in the three groups were compared. ROC curves were drawn to analyze the value of LH basal values and SHBG in identifying RP-CPP. Significant differences were observed in age, height, predicted adult height (PAH), weight, body mass index (BMI), bone age (BA), BA-chronological age (CA), LH basal, LH peak, FSH basal, LH peak/FSH peak, estradiol (E2), testosterone, and SHBG levels between the RP-CPP group and the SP-CPP and PT groups (P < 0.05). The LH basal value in the RP-CPP group was higher than that in the SP-CPP group and the PT group, while SHBG levels were lower than in the latter two groups, and these differences were statistically significant (P < 0.05). When the LH basal value was ≥0.58 IU/L and SHBG was ≤58.79 nmol/L, the sensitivity for diagnosing RP-CPP was 77.5% and 67.5%, and the specificity was 66.7% and 74.1%. Detection of basal LH and SHBG levels allows for early diagnosis of the progression of central precocious puberty.

Clinical Presentation and Etiologic Diagnosis of Disorders of Sex Development in Children in Senegal

Introduction: Disorders of Sex Development (DSD) refer to situations where chromosomal, gonadal or anatomical sex is atypical. We aimed to describe the baseline characteristics on clinical and etiological diagnosis of DSD in Senegalese children. Methods: This retrospective cohort study over a period of 8 years (2015-2022) included all children aged 0 to 18 years followed for DSD at the pediatric endocrinology department of NCHAR in Dakar. Sociodemographic clinical, paraclinical (genetics, imaging, hormonal) parameters were collected and analyzed with Epi Info 7.2. The description was made using position and dispersion parameters and illustrations in the form of appropriate tables and graphs. Bivariate analysis was used for associations between variables, with an alpha error risk of 5% and a CI of 95%. All ethical rules have been respected. Results: We included 102 DSD cases. Only 61 patients (59.80%) had a genetic diagnosis. Mean age at diagnosis was 31.2 ± 46.6 months. Rearing sex of child was male in 35 cases (57.38%) and female in 22 cases (36.06%) and undetermined in 4 cases (6.56%). Based on karyotype analysis, 31(50.82%) of children had 46,XY DSD, 27 (44.26%) had 46,XX DSD and three (4.92%) children with sex chromosome DSD. Etiologies were dominated by congenital adrenal hyperplasia (81.48%) and androgen insensitivity (38.71%) in 46,XX and 46,XY DSD respectively. External masculinization score &gt; 4, palpation of a gonad, a phallus length &gt; 2.5, a single urogenital orifice as well as ultrasound sex were associated with the XY karyotype. Conclusion: Health care professional and medical students should be trained for early diagnosis. A national guideline should be developed for diagnosis and management of DSD during and beyond the pediatric age group, and adapted to evidence and available resources. This can only be achieved if the management of DSD is supported by universal health insurance.

Characterization of newly diagnosed type 1 diabetes in children and adolescents from 2017 to 2022 in China: a single-center analysis

ObjectiveThis study investigated the characteristics of newly diagnosed type 1 diabetes mellitus (T1DM) related to autoimmunity and the frequency of diabetic ketoacidosis (DKA) in children and adolescents from 2017–2022 in China.Research design and methodsSingle-center regional data from the Department of Pediatric Endocrinology, Tongji Hospital, were used to compare 88 children and adolescents newly diagnosed with T1DM from 2020 to 2022 (i.e. during the COVID-19 pandemic in China) and 76 children and adolescents diagnosed with T1DM from 2017 to 2019. Auto-antibodies, including glutamic acid decarboxylase-65 and insulin auto-antibodies, were detected by enzyme-linked immunoassays. DKA was defined as a pH < 7.3 and/or a bicarbonate level < 15 mmol/L.ResultsThe median age of the 164 children and adolescents newly diagnosed with T1DM from 2017 to 2022 was 7.0 years (interquartile range [IQR]: 3.8–10.0 years; 51.83% male). The mean annual incidence of T1DM was 2.98 per 1,000,000 child years. The estimated frequency of auto-antibody positivity was 51.22% (n = 84), and there was no difference between the 2020–2022 group and 2017–2019 group (55.68% [n = 49] vs. 46.5% [n = 35]; p = 0.219). The frequency of DKA among the entire cohort was 57.93% (n = 95), and peaked in 2020 at 78.9% (15/19 patients). The frequency of DKA was not significantly higher in the 2020–2022 group compared with the 2017–2019 group (60.23% [n = 53] vs. 55.26% [n = 42]; p = 0.521). We found no significant difference in the frequency of DKA between patients who were negative vs. positive for auto-antibodies in the 2020–2022 group (64.10% [n = 25] vs. 57.14% [n = 28], p > 0.05). The C-peptide level and HbA1c (%) were positively correlated with onset age (R1 = 0.389, p < 0.01; R2 = 0.371, p < 0.01), and the estimated mean C-peptide level was 0.26 ng/ml (IQR: 0.2–0.4 ng/ml) in patients with DKA and 0.370 ng/ml (IQR: 0.2–0.6 ng/ml) in patients without DKA (p = 0.044).ConclusionsThis study showed the annual incidence of T1DM was 2.98 per 1,000,000 child years, gradually increased over the study period, and there was no significant increase in T1DM with auto-antibody positivity in children and adolescents newly diagnosed from 2020–2022 in China compared with the previous 3 years. Furthermore, the frequency of DKA was peaked in 2020, and were not significantly different between patients who were negative vs. positive for auto-antibodies.

The diagnostic role of arginine-stimulated copeptin in the differential diagnosis of polyuria-polydipsia syndrome (PPS) in pediatric age.

In recent years, copeptin stimulation through arginine administration has been evaluated as a new potential tool in the differential diagnosis of polyuria-polydipsia syndrome (PPS) in adults; to date very few data, all retrospective, exist in pediatric age. The aim of this prospective study is to evaluate the diagnostic performance of the arginine-stimulation test for copeptin in a cohort of pediatric patients affected by PPS. All children (<18 years) referred to the Department of Pediatric Endocrinology of the Regina Margherita Children Hospital for polyuria-polydipsia in the period January 2021-June 2023 were enrolled. The Arginine-stimulation test for copeptin was performed in all patients presenting PPS after water deprivation test (WDT). Patients with polyuria-polydipsia were then classified as having primary polyuria (PP), complete and partial central diabetes insipidus (CDI), according to the standardized interpretation. Arginine-stimulation test for copeptin was also performed in a control cohort. A significant difference in arginine-stimulated copeptin values was observed at baseline (p = 0.005), at 60 min (p = 0.01), and at 90 min (p = 0.005) in 7 subjects presenting PP, 6 patients affected by CDI and 50 subjects of the control cohort. Plasma osmolality values remained stable at all measurements. The arginine-stimulated copeptin test demonstrated sensitivity and specificity of 100%, whereas the sensitivity of the WDT test was 83.3% and the specificity was 85.7%. Given the reliability and the minor adverse effects and costs, the copeptin level after arginine administration could replace the WDT in the diagnostic workup of these in pediatric age.

Clinicoepidemiological Profile of Short Stature at A Tertiary Care Centre in Bangladesh

Background: Short stature (SS) is a common pediatric problem, which can cause psychosocial disturbances both in parents and children. The goal of the evaluation of a child with SS is to identify the subset of children with pathologic causes so that appropriate timely intervention can be made. Objective: The aim of the study was to study the clinical, epidemiological, and etiological profile of SS at a tertiary hospital of Bangladesh. Methods: This was a cross-sectional study and was conducted in the department of pediatric endocrinology, over a period of 1 year (January 2021-December 2021). A total of 100 children aged 3-14 years, with height &lt;-2SD below the mean height for age and sex were studied. Clinical history, examination, and laboratory evaluations were done to assess the cause of SS and the data were analyzed using appropriate statistical methods. Results: About 55% were female and 45% were male. The causes of SS were found to be familial SS (36%), constitutional growth delay of growth and puberty (12%), hypothyroidism (11%), growth hormone deficiency (8%), malnutrition (10%), chronic diseases (9%), genetic syndromes and skeletal problem (8%). Conclusion: The majority of short stature in children had normal variation of growth. Along with endocrine causes, chronic systemic illnesses and malnutrition still form a major bulk in the etiological profile of SS in Bangladesh. DS (Child) H J 2022; 38(2): 79-83

Letter to: Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey

Letter to: Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey

Identification of factors associated with the management of childhood obesity: Results from a French pediatric cohort study

BackgroundsChildhood obesity is a real public health concern because of its association with a higher risk of adulthood obesity and comorbidities (metabolic, cardiovascular, etc.). The factors associated with the effectiveness of care are poorly described. The objective of this study was to identify factors associated with body mass index (BMI) variation in the management of childhood obesity. Material and MethodsChildren followed up for obesity in the Pediatric Endocrinology Department of the University Children Hospital of Nancy were included. Data were retrospectively collected in medical files. The characteristics of patients with a decrease in BMI (in standard deviation score, SDS) were compared with patients with an increased BMI (SDS)after 1 year of follow-up through univariate analysis. ResultsOverall, 141 patients were included, and for 107 patients (55 girls and 52 boys) there were 1-year follow-up data. The mean BMI variation after 1 year of follow-up was−0.068 SD and for 63 patients (58.9%) there was a decrease in BMI SDS. Female patients (66% vs. 41%, p=0.012), hypercholesterolemia (33% vs. 4%, p=0.049), and type 1 diabetes (14% vs. 2%, p=0.019) were more frequent in patients with an unfavorable evolution of BMI SDS at 1 year. A family history of bariatric surgery (36% vs. 11%, p=0.042) or eating behavior disorders (76% vs. 24% of patients; p<0.001) or diabetes (1st or 2nd degree;81% vs. 60%, p=0.044) were also more frequent in children with an unfavorable evolution of BMI SDS at 1 year. ConclusionSeveral negative factors in the evolution of BMI were identified such as female sex, hypercholesterolemia, family history of bariatric surgery, or eating behavior. Early identification of these patients at risk of failure of obesity management is important to control BMI during childhood.

In response to: “Letter to: Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey”

In response to: “Letter to: Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey”

Evaluation of etiology and clinical feature of precocious puberty among children presenting in a pediatric endocrinology department in a tertiary care hospital

Evaluation of etiology and clinical feature of precocious puberty among children presenting in a pediatric endocrinology department in a tertiary care hospital

Evaluation of etiology and clinical feature of precocious puberty among children presenting in a pediatric endocrinology department in a tertiary care hospital.

Objective: To find the frequency of precocious puberty in children and to compare the clinical and laboratory parameters of central &amp; peripheral precocious puberty. Study Design: Cross-sectional study. Setting: Karachi's National Institute of Child Health's Paediatric &amp; endocrinology Division. Period: December 2016 and 2021. Material &amp; Methods: All patients with precocious puberty will be taken from files through non-probability convenience sampling method. Data was analyzed on SPSS version 22.0. Results: Total 65 patients were included. The mean age was 6+3.35years. Precocious puberty was classified as peripheral precocious puberty in 38 (58.4%), central precocious puberty in 20 (30.76%), premature thelarche in 5(7.69%) and premature1pubarche in 2 (3.07%). In the peripheral precocious1puberty group, CAH was found in 22(78.5%), out of which 2 patients were of rare mutation of CAH presenting with peripheral precocious puberty (DAX mutation and 11 B hydroxylase mutation, adenocarcinoma was observed in 2(7.14%) followed by Mu-cane- Albright syndrome was in 4(14.28%) and van wykgrumbach syndrome in 10 patients. Central precocious puberty was found in 20 patients hypothalamic harmartoma in 4(20%), craniopharyngioma 3(15%), hypothalamic astrocytoma 1(5.0%), genetically proven neurofibromatosis in 1(5.0%) patient and hydrocephalus 1(5.0%) and in 10(50%) patients no cause was found. Conclusion: The conclusion of the study that Peripheral precocious puberty was more common than central precocious puberty. The common cause of peripheral precocious puberty was CAH, while central precocious puberty was idiopathic. Children with central precocious puberty had greater height SDS, weight SDS, FSH, and LH levels compared to children who had peripheral precocious puberty.

Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey

A significant rise in the number of trans adolescents seeking medical interventions has been reported in recent years. The aim of this study was to report the clinical features, treatment, and follow-up of adolescents with gender dysphoria (GD) with our increased experience. Twenty-six male-to-female (MTF) and twenty-seven female-to-male (FTM) adolescents who were referred to the GD-outpatient clinic between 2016 and 2022 were reviewed. The clinical and laboratory findings of thirty transgender adolescents (15 FTM /15 MTF) who received medical intervention were evaluated retrospectively. Most individuals (60.4%) were admitted between 2020 and 2022, and the remaining (39.6%) were admitted between 2016 and 2019. At the time of referral, median age was 16.3 years [interquartile range (IQR) 1.53; range 13.2-19.4] in 26 MTF, and 16.4 years (IQR 1.74; range 11.7-21.6) in 27 FTM adolescents. The median age at pubertal blockage with gonadotropin-releasing hormone analog and androgen receptor blocker was 16.4 years (IQR 1.4; range 11.7-17.8) in 22 adolescents (9 MTF, 13 FTM), and 17.4 years (IQR 1.4; range 15.5-19.4) in 6 MTF individuals, respectively. Cross-sex hormone therapy was commenced in 21 adolescents (12 MTF, 9 FTM) at the median age of 17.7 years (IQR 0.61; range 16-19.5). Fifteen individuals (8 MTF, 7 FTM) have been transferred to the adult endocrinology department in transition clinics. All treatments were generally well tolerated and effective, including bicalutamide, and no significant side effects were observed. Transition clinics played an important role in the better management of gender reassignment processes.

Growth hormone treatment in small for gestational age children. Experience in one center.

Introduction. Small for gestational age (SGA) children usually have a final height of 1 SD below the mean. Three groups are established based on anthropometric characteristics at birth: low birth weight (LBW), short birth length (SBL), or both. Objectives. To describe the characteristics of SGA patients seen at the Department of Pediatric Endocrinology of a tertiary care hospital and to analyze the course of SGA children without catch-up growth at 4 years of age who were receiving treatment with growth hormone (GH), according to their diagnosis. Methods. Retrospective study of SGA patients seen between 2004 and 2021. Results. A total of 89 SGA children were studied; 44/89 started treatment with GH (11/44 LBW, 8/44 SBL, and 25/44 both). Their mean age at diagnosis was 3.87 years; their mean height at treatment initiation was -2.99 SD in SGA children diagnosed by LBW, -2.85 SD in those with SBL, and -3.17 SD in those with both LBW and SBL. Their final height was -1.77, -1.52, and -1.23 SD, respectively, with a total gain of 1.22, 1.33, and 1.93 SD, respectively, thus reaching their target height with a difference of 0.36 ± 0.08 SD. Conclusion. Less than half of SGA children referred to the clinic required treatment with GH because they were not yet 4 years old or had not completed their catch-up growth. SGA patients according to birth weight and length had worse percentiles at diagnosis and a greater response to GH.

News from the European Journal of Therapeutics: A new issue and a new editorial board

News from the European Journal of Therapeutics: A new issue and a new editorial board

Adrenal insufficiency management in the pediatric emergency setting and risk factors for adrenal crisis development

BackgroundIn patients with adrenal insufficiency (AI), adrenal crisis (AC) represents a clinical emergency. Early recognition and prompt management of AC or AC-risk conditions in the Emergency Department (ED) can reduce critical episodes and AC-related outcomes. The aim of the study is to report the clinical and biochemical characteristics of AC presentation to improve their timely recognition and proper management in a ED setting.MethodsSingle-centre, retrospective, observational study on pediatric patients followed at the Department of Pediatric Endocrinology of Regina Margherita Children’s Hospital of Turin for primary AI (PAI) and central AI (CAI).ResultsAmong the 89 children followed for AI (44 PAI, 45 CAI), 35 patients (21 PAI, 14 CAI) referred to the PED, for a total of 77 accesses (44 in patients with PAI and 33 with CAI). The main causes of admission to the PED were gastroenteritis (59.7%), fever, hyporexia or asthenia (45.5%), neurological signs and respiratory disorders (33.8%). The mean sodium value at PED admission was 137.2 ± 1.23 mmol/l and 133.3 ± 1.46 mmol/l in PAI and CAI, respectively (p = 0.05). Steroids administration in PED was faster in patients with CAI than in those with PAI (2.75 ± 0.61 and 3.09 ± 1.47 h from PED access, p = 0.83). Significant factors related to the development of AC were signs of dehydration at admission (p = 0.027) and lack of intake or increase of usual steroid therapy at home (p = 0.059). Endocrinological consulting was requested in 69.2% of patients with AC and 48.4% of subjects without AC (p = 0.032).Conclusionchildren with AI may refer to the PED with an acute life-threatening condition that needs prompt recognition and management. These preliminary data indicate how critical the education of children and families with AI is to improve the management at home, and how fundamental the collaboration of the pediatric endocrinologist with all PED personnel is in raising awareness of early symptoms and signs of AC to anticipate the proper treatment and prevent or reduce the correlated serious events.

Rapidly progressive precocious puberty during the COVID-19 lockdown

Introduction. During the COVID-19 pandemic, an increase in consultations for precocious puberty (PP) was observed. Our objective was to determine the frequency of PP and its progression before and during the pandemic. Methods. Retrospective, observational, analytical study. The medical records of patients who consulted with the Department of Pediatric Endocrinology between April 2018 and March 2021 were assessed. Consultations for suspected PP during the pandemic (period 3) were analyzed and compared to the 2 previous years (periods 1 and 2). Clinical data and ancillary tests done in the initial assessment and PP progression information were collected. Results. Data from 5151 consultations were analyzed. An increase in consultations for suspected PP was observed during period 3 (21% versus 10% and 11%, p < 0.001). Patients who consulted for suspected PP during period 3 increased 2.3-fold (80 versus 29 and 31, p < 0.001). In total, 95% were female; this was the population analyzed. We included 132 patients with similar age, weight, height, bone age, and hormonal characteristics in the 3 periods. During period 3, a lower body mass index, a higher percentage of Tanner breast stage 3-4, and a greater uterine length were observed. Treatment was indicated upon diagnosis in 26% of the cases. In the rest, their evolution was monitored. During follow-up, a rapidly progressive course was observed more frequently in period 3 (47% versus 8% versus 13%, p: 0.02). Conclusions. We observed an increase in PP and a rapidly progressive evolution in girls during the pandemic.

HYPOGLYCEMIA AND JAUNDICE IN A NEWBORN REVEALING PITUITARY STALK INTERRUPTION SYNDROME

Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality of the pituitary gland. It is associated with either isolated growth hormone deficiency or combined pituitary hormone deficiency (CPHD). Neonatal PSIS is extremely rare and difficult to diagnose and can be life threatening if diagnosed late. In this manuscript, we descripted a case of neonatal PSIS who is treated at the department ofPediatric Endocrinology atHassan II University Hospital Center of Fez.Sustained hypoglycemia and jaundice in newborns, indicate the presentation of PSIS. Early recognition is of great importance to avoid a life-threatening crisis.

The Cut-Off Value of Serum Anti-Müllerian Hormone Levels for the Diagnosis of Turner Syndrome with Spontaneous Puberty.

Preservation of fertility in Turner syndrome (TS) patients may be feasible through cryopreservation of ovarian tissue before follicles begin to disappear. Anti-Müllerian hormone (AMH) is said to be a predictive factor of spontaneous pubertal development in TS. We aimed to determine the cut-off values of AMH for the diagnosis of TS girls with spontaneous puberty. Design and methods: A total of 95 TS patients between 4 and 17 years were evaluated at the Department of Pediatric Genetic Metabolism and Endocrinology from July 2017 to March 2022. Serum AMH, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) levels were analyzed according to age, karyotype, pubertal development, and ultrasound ovarian visualization. Receiver-operating characteristic (ROC) curve analyzes were used to test the utility of AMH for the diagnosis of TS girls with spontaneous puberty. One-fourth of TS girls aged 8-17 years had spontaneous breast development, with the ratios as follows: 45, X (6/28, 21.4%), mosaicism (7/12, 58.3%), and mosaicism with structural X chromosome abnormalities (SCA) (2/13, 15.4%), SCA (1/13, 7.7%), and Y chromosome (1/3, 33.3%). The AMH cut-off value for the prediction of spontaneous puberty in TS patients was 0.07 ng/ml, with sensitivity and specificity both at 88%. FSH, LH levels, and Karyotypes could not be considered as markers of spontaneous puberty in TS (P > 0.05). A strong relationship was observed between serum AMH levels and spontaneous puberty or ultrasound bilateral ovarian visualization. The AMH cut-off value for the prediction of spontaneous puberty in TS girls aged 8-17 years was 0.07 ng/ml, with sensitivity and specificity both at 88%. However, spontaneous puberty in these patients is not predictable based on karyotype or FSH or LH levels.

Comparison of glucagon stimulation test and low dose ACTH test in assessing hypothalamic-pituitary-adrenal (HPA) axis in children.

Children with a pituitary hormone deficiency are at risk for secondary adrenal insufficiency (AI). A stimulation test is usually performed for diagnosing AI, evaluating both the hypothalamic-pituitary-adrenaland growth hormone (GH)-IGF-1 axes. This single test is preferred by clinicians and is considerably more tolerable by patients. The objective of this study was to evaluate the glucagon stimulation test (GST), which is commonly used to assess both axes. Its diagnostic capability for GHdeficiencyis high and well accepted, however its utility for determining secondary AI has not been well established. This retrospective study involved 120 patients under 18 years of age with short stature who had undergone both a GST and low dose ACTH stimulation test (LDACTH test). Twenty-six children who had more than 6months elapsed between the two tests were excluded from the study. The study was conducted on patients of the Pediatric Endocrinology Department at Soroka University Hospital, a tertiary medical centre in Beer Sheva, Israel. Statistical analyses were carried out via IBM SPSS (v. 22), with a significance level determined at p < .05. Different cortisol cut-off values were assessed for GST and it was determined that the highest combined sensitivity and specificity yielded a cut-off point of 320 nmol/L (56% sensitivity and 83% specificity) while the currently accepted cut-off value (500 nmol/L) yielded 100% sensitivity and 6% specificity. The results of this study show that GST is not an optimal tool for diagnosing secondary AI. Therefore, clinicians using this test should interpret its results with caution.