-
Journal of Pediatric Endocrinology &... Mar 2015Changes in pharmacological agents and advancements in laboratory assays have changed the gonadotropin-releasing hormone analog stimulation test.
BACKGROUND
Changes in pharmacological agents and advancements in laboratory assays have changed the gonadotropin-releasing hormone analog stimulation test.
OBJECTIVE
To determine the best predictive model for detecting puberty in girls.
SUBJECTS
Thirty-five girls, aged 2 years 7 months to 9 years 3 months, with central precocious puberty (CPP) (n=20) or premature thelarche/premature adrenarche (n=15).
METHODS
Diagnoses were based on clinical information, baseline hormones, bone age, and pelvic sonogram. Gonadotropins and E2 were analyzed using immunochemiluminometric assay. Logistic regression for CPP was performed.
RESULTS
The best predictor of CPP is the E2-change model based on 3- to 24-h values, providing 80% sensitivity and 87% specificity. Three-hour luteinizing hormone (LH) provided 75% sensitivity and 87% specificity. Basal LH lowered sensitivity to 65% and specificity to 53%.
CONCLUSIONS
The E2-change model provided the best predictive power; however, 3-h LH was more practical and convenient when evaluating puberty in girls.
Topics: Child; Child, Preschool; Diagnostic Techniques, Endocrine; Female; Gonadotropins; Humans; Puberty; Puberty, Precocious; Reference Values; Retrospective Studies; Stimulation, Chemical
PubMed: 25514323
DOI: 10.1515/jpem-2014-0135 -
Journal of Clinical Research in... 2014Torg and Winchester syndromes and patients reported by Al-AqeelSawairi as well as nodulosis-arthropathy-osteolysis (NAO) patients, patients with multicentric NAO share... (Review)
Review
Torg and Winchester syndromes and patients reported by Al-AqeelSawairi as well as nodulosis-arthropathy-osteolysis (NAO) patients, patients with multicentric NAO share autosomal recessive inheritance. The common presenting symptomatology includes progressive osteolysis chiefly affecting the carpal, tarsal and interphalangeal joints. Here, we report a patient with Torg syndrome. Torg syndrome is caused by homozygous or compound heterozygous mutations in the matrix metalloproteinase 2 (MMP2) gene. MMP2 codes for a gelatinase that cleaves type IV collagen, a major component of basement membrane. The clinical presentation of our patient included moderate osteolysis of the small joints of the hands and knees, hirsutism, nodulosis sparing the palms and soles, corneal opacities and mild facial dysmorphism without gum hypertrophy. Genetic analysis showed that the patient was homozygous for a novel base variant c538 G>A (p.D180N) in the MMP2 gene. Both parents were carriers of the same mutated variant. Our patient had some previously unreported endocrine manifestations such as premature thelarche and elevated follicle-stimulating hormone levels.
Topics: Abnormalities, Multiple; Contracture; Corneal Opacity; Female; Follicle Stimulating Hormone; Growth Disorders; Homozygote; Humans; Matrix Metalloproteinase 2; Mutation; Osteolysis; Osteoporosis; Prognosis; Review Literature as Topic
PubMed: 24637309
DOI: 10.4274/Jcrpe.1166 -
Turkish Journal of Haematology :... Sep 2013Survival rates for childhood acute lymphoblastic leukemia (ALL) have significantly improved and late effects of therapy have been important in the follow-up of...
OBJECTIVE
Survival rates for childhood acute lymphoblastic leukemia (ALL) have significantly improved and late effects of therapy have been important in the follow-up of survivors. The objective of this study is to identify the endocrinological and cardiological late effects of ALL patients treated in our pediatric hematology unit.
MATERIALS AND METHODS
Patients treated for ALL with BFM protocols after at least 5 years of diagnosis and not relapsed were included in the study. Endocrinological late effects (growth failure, obesity, insulin resistance, dyslipidemia, thyroid gland disorders, osteopenia/osteoporosis, and pubertal disorders) and cardiological late effects were evaluated. The study group was evaluated with anthropometric measurements, body mass index, and laboratory testing of fasting glucose, insulin, serum lipids, thyroid functions, and bone mineral densities. Echocardiography and pulsed wave Doppler imaging were performed for analysis of cardiac functions.
RESULTS
Of the 38 ALL survivors, at least 1 adverse event occurred in 23 (60%), with 8 of them (21%) having multiple problems. Six (16%) of the survivors were obese and 8 (21%) of them were overweight. Subjects who were overweight or obese at the time of diagnosis were more likely to be overweight or obese at last follow-up. Obesity was more frequently determined in patients who were younger than 6 years of age at the time of diagnosis. Insulin resistance was observed in 8 (21%) subjects. Insulin resistance was more frequently seen in subjects who had family history of type 2 diabetes mellitus. Hyperlipidemia was detected in 8 (21%) patients. Hypothyroidism or premature thelarche were detected in 2 children. Two survivors had osteopenia. Cardiovascular abnormalities occurred in one of the subjects with hypertension and cardiac diastolic dysfunction.
CONCLUSION
We point out the necessity of follow-up of these patients for endocrinological and cardiological late effects, since at least one adverse event occurred in most of our cases.
CONFLICT OF INTEREST
None declared.
PubMed: 24385809
DOI: 10.4274/Tjh.2012.0094 -
Anales de Pediatria (Barcelona, Spain :... Oct 2014Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to...
Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma.
Topics: Child, Preschool; Female; Gonadal Dysgenesis, 46,XY; Gonadoblastoma; Humans; Ovarian Neoplasms; Puberty, Precocious
PubMed: 24296253
DOI: 10.1016/j.anpedi.2013.09.009 -
Zhongguo Dang Dai Er Ke Za Zhi =... Apr 2013To investigate the clinical status and natural course of premature thelarche (PT) in infants under 2 years of age and to analyze the predictive factors for regression of...
OBJECTIVE
To investigate the clinical status and natural course of premature thelarche (PT) in infants under 2 years of age and to analyze the predictive factors for regression of thelarche.
METHODS
The clinical and laboratory data of 863 infants under 2 years of age, who visited the department of endocrinology in our hospital due to PT between October 2009 and September 2010, were analyzed. A a longitudinal follow-up study was performed.
RESULTS
Of the infants under 2 years of age with isolated PT, 89.3% showed a regression before the age of 3 years (mean 17±5.6 months), 10.7% had recurrent or persistent thelarche, with no regression after the age of 3 years, and some even developed into central precocious puberty. The independent predictive factors for regression of thelarche were Tanner stage at the first visit and whether baseline estradiol level had increased.
CONCLUSIONS
PT in infants under 2 years of age is not rare in the clinical setting, and it usually runs a self-limited course, subsiding before the age of 3 years. However, regular follow-ups should be performed for infants aged over 2 years with persistent thelarche.
Topics: Breast; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Puberty, Precocious
PubMed: 23607952
DOI: No ID Found -
Indian Journal of Endocrinology and... Dec 2012Precocious puberty in girls can be due to number of factors of which idiopathic central precocious puberty is the most common etiology. Here, we describe 3 cases of...
Precocious puberty in girls can be due to number of factors of which idiopathic central precocious puberty is the most common etiology. Here, we describe 3 cases of precocious puberty where the first case had premature thelarche in the background history of mother with Type 2 Diabetes Mellitus, cases 2 and 3 had ovarian tumours with heterogeneity in presentation.
PubMed: 23565375
DOI: 10.4103/2230-8210.104036 -
Korean Journal of Pediatrics Dec 2012Precocious puberty is defined as breast development before the age of 8 years in girls. The present study aimed to reveal the diagnosis of Korean girls referred for...
PURPOSE
Precocious puberty is defined as breast development before the age of 8 years in girls. The present study aimed to reveal the diagnosis of Korean girls referred for precocious puberty and to compare the constitutional and endocrinological features among diagnosis groups.
METHODS
The present study used a retrospective chart review of 988 Korean girls who had visited a pediatric endocrinology clinic from 2006 to 2010 for the evaluation of precocious puberty. Study groups comprised fast puberty, true precocious puberty (PP), pseudo PP, premature thelarche, and control. We determined the height standard deviation score (HSDS), weight standard deviation score (WSDS), and body mass index standard deviation score (BMISDS) of each group using the published 2007 Korean growth charts. Hormone tests were performed at our outpatient clinic.
RESULTS
The PP groups comprised fast puberty (67%), premature thelarche (17%), true PP (15%), and pseudo PP (1%). Advanced bone age and levels of estradiol, basal luteinizing hormone (LH), and peak LH after gonadotropin-releasing hormone stimulation testing were significantly high in the fast puberty and true PP groups compared with the control group. HSDS, WSDS, and BMISDS were significantly higher in the true PP group than in the control group (P<0.05).
CONCLUSION
The frequent causes of PP were found to be fast puberty, true PP, and premature thelarche. Furthermore, BMISDS were significantly elevated in the true PP group. Therefore, we emphasize the need for regular follow-up of girls who are heavier or taller than others in the same age group.
PubMed: 23300504
DOI: 10.3345/kjp.2012.55.12.481 -
Journal of Clinical Research in... Dec 2012The aim of this study was to evaluate the girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty due to early onset of breast...
OBJECTIVE
The aim of this study was to evaluate the girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty due to early onset of breast development or pubarche.
METHODS
Within the study period, we evaluated 289 subjects referred for concerns about early onset of puberty. History, anthropometric data, bone age (BA), hormones including luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, and dehydroepiandrosterone sulfate, as well as pelvic ultrasonography (USG)-derived ovarian and uterine volumes were analyzed.
RESULTS
Of the 289 girls referred for early onset of pubertal development, 64 (22.1%) had false alarms for puberty. Of the remaining 225 girls, 41 (18.2%) were diagnosed as premature pubarche, 56 (24.9%) as premature thelarche (PT), and 128 (56.9%) as precocious puberty (PP). Girls with early-onset puberty had more advanced BA, greater uterine and ovarian volumes, and also higher LH values than subjects with PP and PT. Nearly half of these girls were 7-8 years of age. Body mass index (BMI) standard deviation score was significantly higher in the PP cases.
CONCLUSIONS
There is a need for primary care physicians to be more knowledgeable on puberty and on puberty problems. There seems to be a preponderance of PP in 7-8-year-old children . Increased BMI may have a role in the trend towards earlier onset of puberty.
Topics: Age Determination by Skeleton; Body Mass Index; Bone and Bones; Child; Dehydroepiandrosterone Sulfate; Estradiol; Female; Follicle Stimulating Hormone, Human; Follow-Up Studies; Hospitals, University; Humans; Luteinizing Hormone; Obesity; Outpatient Clinics, Hospital; Ovary; Puberty, Precocious; Severity of Illness Index; Turkey; Ultrasonography; Uterus
PubMed: 23261863
DOI: 10.4274/jcrpe.736 -
Molecular Syndromology Oct 2012We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a...
We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small larynx, a preauricular pit, microtia with internal ear abnormalities, abnormal calcium metabolism, premature thelarche, neonatal/persistent hypoglycemia and eventration of the diaphragm. She was found to have a previously unreported nonsense MLL2 mutation. This is the first case that includes all such findings occurring simultaneously that was genotyped.
PubMed: 23239960
DOI: 10.1159/000342253 -
Zhongguo Dang Dai Er Ke Za Zhi =... Dec 2012To study the value of basal serum gonadotropin levels in the diagnosis of precocious puberty (PP) in girls.
OBJECTIVE
To study the value of basal serum gonadotropin levels in the diagnosis of precocious puberty (PP) in girls.
METHODS
A total of 77 girls with PP were divided into central PP (CPP) (n=45) and isolated premature thelarche (IPT) groups (n=32) based on the results of gonadotropin releasing hormone (GnRH) stimulation test, which was considered the gold standard for diagnosis of PP. The two groups were compared with respect to basal serum luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels and LH/FSH ratio. The receiver operating characteristic (ROC) curve was used to analyze the accuracy of basal LH and FSH levels and LH/FSH ratio in the diagnosis of PP.
RESULTS
The basal serum LH and FSH levels and LH/FSH ratio in the CPP group were significantly higher than in the IPT group (P<0.01). The basal serum LH level was positively correlated with peak LH level in the GnRH stimulation test in both groups. For diagnosis of CPP, the area under the ROC curve (AUC) for basal serum LH level was larger than for basal serum FSH level and LH/FSH ratio (P<0.05), and there was no significant difference in the AUC value between basal serum FSH level and LH/FSH ratio. When the basal serum LH level was 0.62 IU/L, there was a maximum Youden index (0.684), with 77.8% sensitivity and 90.6% specificity. When the basal serum LH level reached 1.5 IU/L, the sensitivity decreased to 31.1%, but with the highest specificity (100%).
CONCLUSIONS
Basal serum LH level is superior to LH/FSH ratio and basal serum FSH level in the diagnosis of CPP, and can be used for preliminary diagnosis of PP in girls in the out-patient department, but there is some misdiagnosis and missed diagnosis. When basal serum LH level is higher than 1.5 IU/L the diagnosis of CPP can be confirmed in combination with clinical manifestation, without the need for an additional GnRH stimulation test.
Topics: Child; Child, Preschool; Female; Follicle Stimulating Hormone; Humans; Luteinizing Hormone; Puberty, Precocious; ROC Curve
PubMed: 23234783
DOI: No ID Found