Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication

2016 ◽  
Vol 0 (0) ◽  
Author(s):  
Aris Giannakopoulos ◽  
Helen Fryssira ◽  
Maria Tzetis ◽  
Athina Xaidara ◽  
Christina Kanaka-Gantenbein
Keyword(s):  
Precocious Puberty ◽  
Chromosomal Region ◽  
Neurodevelopmental Disorder ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Gnrh Analog ◽  
22Q13 Deletion Syndrome ◽  
Accelerated Growth

AbstractThe 22q13 deletion syndrome or Phelan-McDermid syndrome is a neurodevelopmental disorder associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic faces. We report the occurrence of central precocious puberty in a boy diagnosed with Phelan-McDermid syndrome. At the age of 1 year, our patient presented with increased testicular volume for his age, bone age advancement and growth acceleration. Stimulated gonadotropin levels demonstrated a premature activation of the hypothalamic-pituitary-gonadal (HPG) axis. Central precocious puberty was treated with gonadotropin-releasing hormone (GnRH) analog. Molecular diagnosis with array-comparative genomic hybridization (CGH) revealed a major deletion of 5.8 Mb at the 22q13 chromosomal region and a 25 kb duplication at the 9q34.3 region that included the

scholarly journals Circulating ghrelin levels in girls with central precocious puberty are reduced during treatment with LHRH analog

2007 ◽  
Vol 156 (1) ◽  
pp. 99-103 ◽  
Author(s):  
Claudio Maffeis ◽  
Roberto Franceschi ◽  
Paolo Moghetti ◽  
Marta Camilot ◽  
Silvana Lauriola ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Pubertal Development ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Serum Levels ◽  
Gnrh Analog ◽  
Therapy Discontinuation ◽  
17Β Estradiol ◽  
Therapy Withdrawal ◽  
Ghrelin Secretion

Decreased levels of ghrelin have been measured in growing children during puberty. No data are available for girls with central precocious puberty (CPP). Aims: To explore ghrelin changes before, during, and after GnRH analog treatment in girls with CPP. Subjects and methods: A sample of 20 Caucasian girls (8.08 ± 0.65 years of age) with CPP was recruited. Height and weight, bone age, LH, FSH, 17β estradiol (E2), and ghrelin were measured before starting treatment with GnRH analog, 18 months after therapy began and again 6 months after therapy discontinuation. Results: LH and E2 serum levels decreased significantly during treatment (2.45 ± 2.03 vs 0.67 ± 0.49 UI/l, P < 0.01 and 28.17 ± 9.7 vs 15 pmol/l, P < 0.01 respectively), returning to baseline levels after the discontinuation of therapy (4.75 ± 1.66 UI/l and 29.23 ± 6.99 pmol/l respectively). LH peaked following LHRH stimulation significantly (P < 0.01) decreased during treatment (24.45 ± 14.17 vs 1.3 ± 0.18 UI/l) and then increased after therapy discontinuation (12.58 ± 6.09, P < 0.01). Ghrelin decreased significantly (P < 0.05) during treatment (1849 ± 322 vs 1207 ± 637 pg/ml), and increased, though not significantly (P = 0.09) after therapy withdrawal (1567 ± 629 pg/ml). Conclusions: Contrary to what is expected in physiologic puberty, where ghrelin is progressively reduced, the prepubertal hormone milieau induced by GnRHa treatment in patients suffering from central precocious puberty (CPP) did not promote an increase in ghrelin circulating levels. Therefore, in CPP, ghrelin secretion seems to be independent from pubertal development per se. Concomitant estrogen suppression during treatment may play a potential role in the regulation of ghrelin secretion in these girls.

scholarly journals Central Precocious Puberty in Boys and Girls: Similarities and Differences

Sexes ◽  
2021 ◽  
Vol 2 (1) ◽  
pp. 119-131
Author(s):  
Cristina Mucaria ◽  
Nina Tyutyusheva ◽  
Giampiero I. Baroncelli ◽  
Diego Peroni ◽  
Silvano Bertelloni
Keyword(s):  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Gnrh Analog ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
The Central Nervous System

Central precocious puberty (CPP) is due to the premature activation of the hypothalamic–pituitary–gonadal axis, which is responsible for the appearance of secondary sexual characteristics. It occurs before the age of 8 and 9 in girls and boys, respectively. CPP shows higher incidence in females than in males. Causes of CPP are similar in both sexes, but the idiopathic form is more frequent in girls, while organic forms are more frequent in males. Recent studies demonstrated a role of some genetic variants in the pathogenesis of CPP. The diagnostic evaluation based on accurate physical examination, assessment of the pituitary–gonadal axis, pelvic sonography in girls, and determination of bone age. Magnetic resonance of the central nervous system should be done in all boys and selected girls. Since the 1980s, pharmacologic treatment involves the use of gonadotropin-releasing hormone (GnRH) analogs. These drugs are characterized by few side effects and long-term safety. Many data are available on the outcome of GnRH analog treated female patients, while poor data are reported in boys. Adult height is improved in both sexes.

Rapid progressive central precocious puberty: diagnostic and predictive value of basal sex hormone levels and pelvic ultrasound

2020 ◽  
Vol 33 (6) ◽  
pp. 785-791
Author(s):  
Valeria Calcaterra ◽  
Catherine Klersy ◽  
Federica Vinci ◽  
Corrado Regalbuto ◽  
Giulia Dobbiani ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Tanner Stage ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Diagnostic Value ◽  
Sex Hormone ◽  
Pelvic Ultrasound ◽  
Predictive Values ◽  
Hormone Levels ◽  
Ultrasound Parameters

AbstractObjectivesData on the predictive values of parameters included in the diagnostic work-up for precocious puberty (PP) remain limited. We detected the diagnostic value of basal sex hormone levels, pelvic ultrasound parameters and bone age assessment for activation of the hypothalamic-pituitary-gonadal axis in girls with PP, in order to help in the decision to perform GnRH testing.Patients and methodsWe retrospectively considered 177 girls with PP. According to puberty evolution, the girls were divided into two groups: rapid progressive central precocious puberty (RP-CPP) and non/slowly progressive/transient forms (SP-PP). In all patients we considered Tanner stage, basal luteinizing hormone (LH) and estradiol (E2) values, bone age, and pelvis examination. We assessed the diagnostic value of each variable and identified the number of pathological parameters that best identify patients with RP-CPP.ResultsBasal LH ≥ 0.2IU/L, E2 level ≥ 50 pmol/L, uterine longitudinal diameter ≥ 3.5 cm, transverse uterine diameter ≥ 1.5 cm, endometrial echo and ovarian volume ≥ 2 cm3 were significantly associated with RP-CPP (p ≤ 0.01). The ability to diagnose RP-CPP was enhanced with increasing number of pathological hormonal and instrumental parameters (p < 0.001). With more than three parameters detected, sensitivity and specificity reached 58% (95%CI 48–67) and 85% (95%CI 74–92), respectively, with a PPV = 86% (95%CI 76–93) and PPN = 54% (95%CI 43–54); the area under the ROC curve was 0.71 (95%CI 0.65–0.78).ConclusionDespite the availability of different tests, diagnosing RP-CPP remains difficult. A diagnosis model including at least three hormonal and/or ultrasound parameters may serve as a useful preliminary step in selecting patients who require GnRH testing for early detection of RC-PP.

Assessment of gonadotropin concentrations stimulated by gonadotropin-releasing hormone analog by electrochemiluminescence (ECLIA) in girls with precocious puberty and premature thelarche

2021 ◽  
Author(s):  
Kamila Botelho Fernandes de Souza ◽  
Melyna Shayanne Pessôa Veiga ◽  
Gabriela Ráina Ferreira Martins ◽  
Adriana Paula da Silva ◽  
Lívia Grimaldi Abud Fujita ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Gonadotropin Releasing Hormone ◽  
Assay Method ◽  
Premature Thelarche ◽  
Releasing Hormone ◽  
Cutoff Values ◽  
Hormone Analog ◽  
Hormone Analogs

Objective: The aim of this study is to determine the cutoff values of gonadotropin response to gonadotropin-releasing hormone analogs (GnRHas) corresponding to the activation of the hypothalamic–pituitary–gonadal axis that could differentiate central precocious puberty (CPP) from premature thelarche (PT) and using the electrochemiluminescence assay method. Methods: A total of 49 girls underwent the stimulation test with the intramuscular injection of 3.75 mg leuprolide acetate. Based on the clinical and laboratory characteristics, they were divided into two groups: CPP (n = 22) and PT (n = 27). Baseline estradiol, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) were collected before GnRHa administration, and LH and FSH at 60 and 120 min, respectively, after GnRHa administration. Results: The girls with CPP presented an increased height Z-score, advanced bone age, and higher baseline LH, FSH, estradiol, and LH/FSH ratio in relation to PT (p < 0.001). Stimulated LH differed significantly between the two groups, and the LH cutoff values were ≥4.29 IU/L (p < 0.001) and ≥3.95 IU/L at 60 and 120 min, respectively (p < 0.001). LH peak was found at 60 min after stimulation. Conclusions: The GnRHa test is effective in distinguishing CPP from PT, and a single sampling, at 60 min, with LH concentrations above 4.29 may be the parameter of choice with the advantage of greater convenience and practicality.

scholarly journals Ovarian cysts and tumors as the cause of isosexual pseudoprecocious puberty

2006 ◽  
Vol 134 (7-8) ◽  
pp. 305-309 ◽  
Author(s):  
Katarina Mitrovic ◽  
Dragan Zdravkovic ◽  
Tatjana Milenkovic ◽  
Katarina Sedlecki ◽  
Zoran Stankovic
Keyword(s):  
Luteinizing Hormone ◽  
Granulosa Cell ◽  
Precocious Puberty ◽  
Granulosa Cell Tumor ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Cell Tumor ◽  
Ovarian Cysts ◽  
Pelvic Ultrasound ◽  
Releasing Hormone

Introduction. Precocious puberty in girls is generally defined as appearance of secondary sexual characteristics before eight years of age. Menarche before the ninth birthday may serve as an additional criterion. Precocious puberty is divided in central precocious puberty and pseudoprecocious puberty. Central precocious puberty (GnRH dependent) occurs because of premature activation of hypothalamic-pituitarygonadal axis and activity of gonadotrophins. Pseudoprecocious puberty (GnRH independent) is caused by activity of sexual steroids that are not the result of gonadotrophin activity. Objective. Objective of our study was to examine the etiology, clinical and laboratory manifestations of isosexual pseudoprecocious puberty in girls. Method. In the period between 1995 and 2004, clinical and laboratory sings of 34 girls with precocious puberty were studied at the Endocrine Department of the Institute of Mother and Child Health Care of Serbia. Initial evaluations included height measurement, staging of puberty, bone age assessment and pelvic ultrasound. Important diagnostic sonographic parameters of precocious puberty were the volumes of ovaries and uterus as well as ovarian structure. The initial hormonal evaluation included measuring of plasma oestradiol, luteinizing hormone (LH) and follicle stimulating hormone (FSH). The luteinizing hormone releasing hormone (LHRH) stimulation test was used to evaluate LH and FSH responsiveness (60 ?g/m2 LHRH- Relefact LHRH?, Ferring). Blood samples were collected at 0, 20 and 60 minutes. Basal and GnRH stimulated LH and FSH were determined by immunoradiometric assay. Estradiol concentration was measured using the fluoroimmunometric assay. Results. Thirty-four girls aged 6 months to 9 years (mean age 4.5 years) with precocious puberty were studied during the period of 9 years. Eleven girls presented with breast development, six with vaginal bleeding and seventeen with signs of puberty. On the basis of clinical signs, bone age, estradiol levels and LHRH test, premature the larche was diagnosed in eleven patients (32.4%), premature menarche in six (17.6%) and central precocious puberty in ten girls (29.4%). Seven girls (20.6%) presented with pseudoprecocious puberty. Pelvic ultrasound examination revealed unilateral ovarian cysts in six patients and granulosa cell tumor in one. Elevated estrogen serum levels and failure of gonadotropin responses after gonadotropin releasing hormone were the classical findings in patients with isosexual pseudoprecocious puberty during the acute period of disease. In four patients, the cyst decreased spontaneously after several months, while in two patients, the cyst was removed by laparotomy. Surgical treatment was performed in a patient with granulosa cell tumor. Conclusion. Our work demonstrates that autonomous functional ovarian follicle cyst is the most often cause of isosexual pseudoprecocious puberty. Short period of observation is suggested because the cyst can resolve spontaneously. On the other hand, juvenile granulosa cell tumor, as highly malignant tumor, should be removed as soon as diagnosis is established.

The utility of serum inhibin B, anti-Müllerian hormone and insulin growth factor-1 in predicting a positive response to GnRH analogs for diagnosing central precocious puberty in girls

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Liu Ziqin ◽  
Song Qinwei ◽  
Chen Xiaobo ◽  
Li Xiaohui
Keyword(s):  
Growth Factor ◽  
Precocious Puberty ◽  
Operating Characteristic ◽  
Positive Response ◽  
Roc Curves ◽  
Central Precocious Puberty ◽  
Inhibin B ◽  
Gnrh Analog ◽  
Insulin Growth Factor ◽  
Chinese Girls

Abstract Objectives The use of inhibin B (INHB), anti-Müllerian hormone (AMH) and insulin-like growth factor-1 (IGF-1) in differentiating central precocious puberty (CPP) from non-CPP was evaluated. Methods In total, 115 Chinese girls were recruited (CPP: 44, non-CPP: 71). The diagnostic performance of INHB, AMH and IGF-1 in differentiating CPP from non-CPP was analyzed using receiver operating characteristic (ROC) curves. Results INHB levels were higher in the CPP group than in the non-CPP group (55.56 ± 22.42 vs. 32.97 ± 15.59 pg/mL; p<0.001). AMH levels were similar in the CPP and non-CPP groups (6.63 ± 3.74 vs. 5.70 ± 3.15 pg/mL; p=0.158), and IGF-1 levels were much higher in the CPP group than in the non-CPP group (290.75 ± 79.78 vs. 200.10 ± 54.01 pg/mL; p<0.001). The area under the ROC curve (AUC) was greatest for INHB (0.819, standard error (SE) 0.041), followed by IGF-1 (0.809, SE 0.047) and AMH (0.567, SE 0.057). Among the ROC curves including combinations of these parameters, the AUC for INHB + IGF-1 was 0.849 and that for INHB + AMH was 0.768. Conclusions Serum INHB and IGF-1 measurements could predict positive responses to gonadotropin-releasing hormone (GnRH) analog stimulation in girls with precocious puberty.

Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg)

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Carolina O. Ramos ◽  
Ana P M Canton ◽  
Carlos Eduardo Seraphim ◽  
Aline Guimarães Faria ◽  
Flavia Rezende Tinano ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Adult Height ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Overweight And Obesity ◽  
Leuprorelin Acetate ◽  
The Mean ◽  
Hormone Analogs

Abstract Objectives Longer-acting gonadotropin-releasing hormone analogs (GnRHa) have been widely used for central precocious puberty (CPP) treatment. However, the follow-up of patients after this treatment are still scarce. Our aim was to describe anthropometric, metabolic, and reproductive follow-up of CPP patients after treatment with leuprorelin acetate 3-month depot (11.25 mg). Methods Twenty-two female patients with idiopathic CPP were treated with leuprorelin acetate 3-month depot (11.25 mg). Their medical records were retrospectively evaluated regarding clinical, hormonal, and imaging aspects before, during, and after GnRHa treatment until adult height (AH). Results At the diagnosis of CPP, the mean chronological age (CA) was 8.2 ± 1.13 year, and mean bone age (BA) was 10.4 ± 1.4 year. Mean height SDS at the start and the end of GnRHa treatment was 1.6 ± 0.8 and 1.3 ± 0.9, respectively. The mean duration of GnRHa treatment was 2.8 ± 0.8 year. Mean predicted adult heights (PAH) at the start and the end of GnRH treatment was 153.2 ± 8.6 and 164.4 ± 7.3 cm, respectively (p<0.05). The mean AH was 163.2 ± 6.2 cm (mean SDS: 0.1 ± 1). All patients were within their target height (TH) range. There was a decrease in the percentage of overweight and obesity from the diagnosis until AH (39–19% p>0.05). At the AH, the insulin resistance and high LDL levels were identified in 3/17 patients (17.6%) and 2/21 patients (9.5%), respectively. The mean CA of menarche was 12.2 ± 0.5 years. At the AH, PCOS was diagnosed in one patient (4.8%). Conclusions Long-term anthropometric, metabolic, and reproductive follow-up of patients with CPP treated with longer-acting GnRHa revealed effectivity, safety, and favorable outcomes.

scholarly journals Hypothalamic hamartoma presenting as central precocious puberty: a rare case report

2020 ◽  
Vol 7 (7) ◽  
pp. 1634
Author(s):  
Priyanka Sharma ◽  
Nishant Acharya ◽  
Trilok C. Guleria
Keyword(s):  
Case Report ◽  
Precocious Puberty ◽  
Rare Case ◽  
Treatment Options ◽  
Central Precocious Puberty ◽  
Breast Size ◽  
Hypothalamic Hamartoma ◽  
Gnrh Analog ◽  
Gnrh Analogs ◽  
Rare Case Report

Precocious puberty is defined as children attaining puberty more than 2.5 to 3 standard deviations (SD) earlier than the median age, or before the age of eight years in girls and nine years in boys. Hypothalamic hamartoma (HH) are rare, non progressive tumor like malformation. Precocious puberty due to HH occurs particularly at early ages, even 2 or 3 years. Treatment options for isolated CPP due to HH include GnRH analogs agonists continuously stimulates pituitary gonadotrophs, which further help in decreasing and desensitizing the release of LH, and to a lesser extent, FSH till the time puberty naturally set in. We present a case of precocious puberty due to hypothalamic hamartoma in 3 years old girl. Treated with GnRH analog lupirode and responded well to treatment with cessation of menstruation and reduction in breast size.

Sign in / Sign up

Export Citation Format

Share Document