scholarly journals Central precocious puberty in spina bifida children: Guidelines for the care of people with spina bifida

2020 ◽  
Vol 13 (4) ◽  
pp. 557-563
Author(s):  
Nourah Almutlaq ◽  
Joseph O’Neil ◽  
John S. Fuqua
Keyword(s):  
Spina Bifida ◽  
Precocious Puberty ◽  
Early Recognition ◽  
Central Precocious Puberty ◽  
Fourth Edition ◽  
Diagnosis And Management ◽  
Pediatric Endocrinologist ◽  
The Impact ◽  
Timely Referral

Children with spina bifida are at greater risk of developing central precocious puberty (CPP) compared to others. Therefore, early recognition and timely referral for further evaluation by a pediatric endocrinologist allows appropriate management that reduces the impact of CPP. This article discusses the diagnosis and management of CPP in children with spina bifida. This guideline was developed for SB Transition Healthcare Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida.

scholarly journals Precocious puberty in girls: a clinical case of idiopathic central precocious puberty

2021 ◽  
Vol 12 (1) ◽  
pp. 71-77
Author(s):  
Olga V. Lagno ◽  
Maria E. Turkunova ◽  
Elena B. Bashnina
Keyword(s):  
Precocious Puberty ◽  
Sexual Development ◽  
Clinical Case ◽  
Central Precocious Puberty ◽  
Gonadotropin Releasing Hormone ◽  
Bone Maturation ◽  
Important Place ◽  
Releasing Hormone ◽  
Pediatric Endocrinologist ◽  
Diagnostic Difficulties

Central precocious puberty occupies an important place in the practice of a pediatric endocrinologist. If the patient reveals signs of premature sexual development, the diagnostic search is aimed at eliminating the tumor origin of both false (peripheral) and gonadotropin-dependent, or central, precocious puberty, as well as gonadotropin-independent forms of premature sexual development. Oncological alertness is important in the work of not only a pediatric endocrinologist, but also a pediatrician. In the treatment of all non-tumor forms of central precocious puberty, drugs of the group of analogues of gonadotropin-releasing hormone are used, which allows to stop the progression of sexual development, reduce the rate of bone maturation and, thereby, increase the final growth of the child. The most common idiopathic variant of central precocious puberty. The article presents a clinical case of observing a patient with an idiopathic variant of central premature sexual development during therapy with a drug from the group of analogues of gonadotropin releasing hormone of prolonged action. The classical course of the idiopathic variant of central precocious puberty with typical diagnostic difficulties in the onset of the disease, good compensation against the background of therapy with a drug from the group of agonists of gonadotropin-releasing hormone and normal puberty 612 months after cancellation of the therapy is demonstrated. The latter is explained by the proven reversibility of the effects of this group of drugs. The description of this clinical case, in the authors opinion, should be of interest to doctors at the local pediatricians and pediatricians working in the medical care departments for children in educational institutions.

scholarly journals Long-Term Observation of 87 Girls with Idiopathic Central Precocious Puberty Treated with Gonadotropin-Releasing Hormone Analogs: Impact on Adult Height, Body Mass Index, Bone Mineral Content, and Reproductive Function

2008 ◽  
Vol 93 (1) ◽  
pp. 190-195 ◽  
Author(s):  
Anna Maria Pasquino ◽  
Ida Pucarelli ◽  
Fabiana Accardo ◽  
Vitan Demiraj ◽  
Maria Segni ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Bone Mineral ◽  
Precocious Puberty ◽  
Adult Height ◽  
Reproductive Function ◽  
Central Precocious Puberty ◽  
Idiopathic Central Precocious Puberty ◽  
Discontinuation Of Treatment ◽  
The Impact

Abstract Objective: We assessed in a retrospective unicenter study the impact of treatment with GnRH analogs (GnRHa) on adult height (AH), body mass index (BMI), bone mineral density (BMD), and reproductive function in girls with idiopathic central precocious puberty (ICPP). Patients: Eighty-seven ICPP patients were treated with GnRHa for 4.2 ± 1.6 yr (range 3–7.9) and observed for 9.9 ± 2.0 yr (range 4–10.6 yr) after discontinuation of treatment; to estimate the efficacy better, 32 comparable ICPP untreated girls were analyzed. Results: AH was 159.8 ± 5.3 cm, significantly higher than pretreatment predicted AH (PAH) either for accelerated or for average tables of Bayley and Pinneau. The gain in centimeters between pretreatment PAH and AH was 5.1 ± 4.5 and 9.5 ± 4.6 cm, respectively. Hormonal values and ovarian and uterine dimensions, reduced during treatment, increased to normal after 1 yr without therapy. Age of menarche was 13.6 ± 1.1 yr with an interval of 0.9 ± 0.4 yr after therapy. Menstrual pattern was normal. Six girls became pregnant and delivered normal offspring. BMI sd score for chronological age increased, but not significantly, before, during, and after therapy. BMD at discontinuation of treatment was significantly lower and increased to control values after gonadal activity resumption. Conclusions: GnRHa treatment in ICPP is safe for the reproductive system, BMD, and BMI and helpful in reaching AH close to target height; however, the variability of individual responses suggests that one choose more parameters than increment in height, especially in girls with pubertal onset over 8 yr of age.

scholarly journals Low Frequency of MKRN3 and DLK1 Variants in Chinese Children with Central Precocious Puberty

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Ting Chen ◽  
Linqi Chen ◽  
Haiying Wu ◽  
Rongrong Xie ◽  
Fengyun Wang ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Protein Structures ◽  
Ring Finger ◽  
Low Frequency ◽  
Central Precocious Puberty ◽  
Bioinformatic Analysis ◽  
Chinese Patients ◽  
Early Puberty ◽  
Hydrogen Bond Formation ◽  
The Impact

Background. Central precocious puberty (CPP) is defined by gonadotropin-dependent development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. MKRN3 and DLK1 are two genes, disease-causing variants of which have recently been discovered to cause idiopathic CPP. Methods. We screened 173 Chinese patients (9 males and 164 females; 9 familial and 164 sporadic) with ICPP and 43 patients (9 males and 34 females; 3 familial and 40 sporadic) with early puberty for variants in MKRN3. We also screened 19 patients with ICPP and early puberty for variants of DLK1 (17 males and 2 females; 5 familial and 14 sporadic). Results. We identified four novel missense variants of MKRN3, c.1138G > A (p.Glu380Lys), c.1420T > A (p.Leu474Met), c.673C > G (p.Leu225Val), and c.1071C > G (p.Ile357Met) in two sporadic cases and three familial cases. According to ACMG standards, two MKRN3 variant (p.Glu380Lys and p.Ile357Met) are likely pathogenic, and two others are of uncertain significance. We also performed bioinformatic analysis to evaluate the impact of variants on MKRN3 protein structures, which showed that Ile357Met locates at the zinc-binding region (C3HC4 RING finger motif), while Glu380Lys is spatially extremely close to the C3HC4 RING finger, MKRN-specific Cys-His domain, and the third C3H1 zinc-finger motif region. Per Glu380Lys, Glu with negative charges has been changed into Lys with positive charges, which may affect the hydrogen bond formation between amino acids and the stability of the local structure, thus affecting the binding of zinc iron to MKRN3 protein. Besides, we did not identify any variants of DLK1 gene in our patients. Conclusions. In this study, we report four novel MKRN3 variants in patients with ICPP. Moreover, we did not find any variants of DLK1 gene. Variants of MKRN3 are relatively uncommon in Chinese ICPP patients.

scholarly journals Nutrition, metabolic syndrome, and obesity: Guidelines for the care of people with spina bifida

2020 ◽  
Vol 13 (4) ◽  
pp. 637-653
Author(s):  
Amy C. McPherson ◽  
Lorry Chen ◽  
Joseph O’Neil ◽  
Kerri A. Vanderbom
Keyword(s):  
Metabolic Syndrome ◽  
Spina Bifida ◽  
Weight Management ◽  
Healthy Lifestyle ◽  
Early Recognition ◽  
Health Problems ◽  
Fourth Edition ◽  
Adolescents And Adults ◽  
Weight Management Counseling ◽  
Poor Nutrition

Nutritional challenges and a lack of activity can lead to health problems across the lifespan for people with spina bifida. Children and adults with spina bifida are also at greater risk of being classified as overweight or obese compared to their peers without the condition. Therefore, early recognition of nutrition problems, weight management counseling, and timely referrals for evaluation and management of diet and activity can help those with spina bifida and their families achieve a healthy lifestyle. This article details the development of the Nutrition, Metabolic Syndrome and Obesity Guidelines, which are part of the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida. It discusses the identification and management of poor nutrition and prevention of obesity for children, adolescents, and adults with spina bifida and highlights areas requiring further research.

scholarly journals Family functioning guidelines for the care of people with spina bifida

2020 ◽  
Vol 13 (4) ◽  
pp. 535-542
Author(s):  
Tessa K. Kritikos ◽  
Grayson N. Holmbeck
Keyword(s):  
Spina Bifida ◽  
Family Functioning ◽  
Family System ◽  
Child Outcomes ◽  
Vulnerability Factors ◽  
Fourth Edition ◽  
Future Directions ◽  
The Family ◽  
Clinical Questions ◽  
The Impact

Research supports a resilience-disruption model of family functioning in families with a child with spina bifida. Guidelines are warranted to both minimize disruption to the family system and maximize family resilience and adaptation to multiple spina bifida-related and normative stressors. This article discusses the spina bifida family functioning guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida, and reviews evidence-based directions with the intention of helping individuals with spina bifida achieve optimal mental health throughout their lifespan. Guidelines address clinical questions pertaining to the impact of having a child with spina bifida on family functioning, resilience and vulnerability factors, parenting behaviors that may facilitate adaptive child outcomes, and appropriate interventions or approaches to promote family functioning. Gaps in the research and future directions are discussed.

scholarly journals An FSH and TSH pituitary adenoma, presenting with precocious puberty and central hyperthyroidism

2017 ◽  
Vol 2017 ◽  
Author(s):  
Guadalupe Vargas ◽  
Lourdes-Josefina Balcazar-Hernandez ◽  
Virgilio Melgar ◽  
Roser-Montserrat Magriña-Mercado ◽  
Baldomero Gonzalez ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Precocious Puberty ◽  
Early Recognition ◽  
Central Precocious Puberty ◽  
Biologically Active ◽  
Therapeutic Interventions ◽  
List Type ◽  
Bilateral Oophorectomy ◽  
Central Hyperthyroidism ◽  
Excessive Secretion

A 19-year-old woman with a history of isosexual precocious puberty and bilateral oophorectomy at age 10 years because of giant ovarian cysts, presents with headaches and mild symptoms and signs of hyperthyroidism. Hormonal evaluation revealed elevated FSH and LH levels in the postmenopausal range and free hyperthyroxinemia with an inappropriately normal TSH. Pituitary MRI showed a 2-cm macroadenoma with suprasellar extension. She underwent successful surgical resection of the pituitary tumor, which proved to be composed of two distinct populations of cells, each of them strongly immunoreactive for FSH and TSH, respectively. This mixed adenoma resulted in two different hormonal hypersecretion syndromes: the first one during childhood and consisting of central precocious puberty and ovarian hyperstimulation due to the excessive secretion of biologically active FSH and which was not investigated in detail and 10 years later, central hyperthyroidism due to inappropriate secretion of biologically active TSH. Although infrequent, two cases of isosexual central precocious puberty in girls due to biologically active FSH secreted by a pituitary adenoma have been previously reported in the literature. However, this is the first reported case of a mixed adenoma capable of secreting both, biologically active FSH and TSH. Learning points: Although functioning gonadotrophinomas are infrequent, they should be included in the differential diagnosis of isosexual central precocious puberty. Some functioning gonadotrophinomas are mixed adenomas, secreting other biologically active hormones besides FSH, such as TSH. Early recognition and appropriate treatment of these tumors by transsphenoidal surgery is crucial in order to avoid unnecessary therapeutic interventions that may irreversibly compromise gonadal function.

scholarly journals SAT-520 Unusual Case of Hypothyroidism Possibly Due to Dialysis Leading to Van Wyk Grumbach Syndrome (VWGS)

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jenice Chummar ◽  
Parissa Salemi
Keyword(s):  
Renal Transplantation ◽  
Thyroid Hormone ◽  
Precocious Puberty ◽  
Chronic Renal Disease ◽  
Early Recognition ◽  
Hormone Replacement ◽  
Brain Mri ◽  
Central Precocious Puberty ◽  
Primary Hypothyroidism ◽  
Poor Growth

Abstract BACKGROUND: Van Wyk Grumbach Syndrome (VWGS) is characterized by precocious central puberty in the setting of juvenile chronic primary hypothyroidism with symptom regression following thyroxine replacement. Clinical Case: A 2 year old girl with dysplastic kidneys and chronic renal disease had been treated by her nephrologist with growth hormone for poor growth. She was referred to Endocrinology for evaluation of bloody dialysate thought to be retrograde menstrual flow. Pelvic US showed bilateral large cystic adnexae possibly ovarian cysts versus septated collections of dialysate fluid. Hormone measurements showed pubertal levels of LH 0.4mIU/mL and FSH 5.4mIU/mL, with a relatively low Estradiol 5.3pg/mL. Brain MRI showed impressive pituitary enlargement measuring 1.3cm craniocaudally. Additional laboratory testing was notable for a low normal free T4 fT4 0.9ng/dL and markedly elevated TSH>1000uIU/mL and Prolactin 835ng/mL. Thyroid US showed thyroid enlargement, and echogenic and hyper vascular gland. Anti-thyroid antibodies titers were normal, AM cortisol and IGF1 were also normal for age. We speculate that this case of profound hypothyroidism was due to dialysis, as thyroid function improved after the child underwent renal transplantation. Levothyroxine was discontinued 5 months after renal transplantation. Elevated TSH may induce a form of pseudopuberty as the TSH alpha subunit is similar to that of LH and binds to the LH receptor to stimulate the ovaries with cyst formation. Conclusion: In VWGS, primary hypothyroidism with elevated TSH induces central precocious puberty. This child’s bloody diasylate was likely the result of transient central precocious puberty associated with uncontrolled primary hypothyroidism with elevated TSH and prolactin. Although the literature on dialysis suggests minimal thyroid hormone losses, this case shows the importance of monitoring thyroid hormones in dialysis patients. Early recognition of VWGS and initiation of thyroid hormone replacement can lead to resolution of symptoms.

Development of central precocious puberty following cannabinoid use for paediatric epilepsy: causal or coincidence?

2021 ◽  
Vol 14 (4) ◽  
pp. e239678
Author(s):  
Aditya Krishnan ◽  
Juliana Chizo Agwu ◽  
Chetana Kallappa ◽  
Rajesh Pandey
Keyword(s):  
Precocious Puberty ◽  
Direct Consequence ◽  
Central Precocious Puberty ◽  
Pubic Hair ◽  
Cannabis Use ◽  
Delayed Puberty ◽  
Temporal Association ◽  
Hpg Axis ◽  
Testosterone Levels ◽  
The Impact

Research suggests a role for cannabidiol oil in managing certain forms of paediatric onset epilepsy. However, studies on the impact of cannabis on the hypothalamo-pituitary-gonadal (HPG) axis have conflicting results. Delta-9-tetrahydrocannabinol (Δ9-THC) acutely inhibits gonadotropin-releasing hormone in the hypothalamus, reducing testosterone levels by 65% in rhesus monkeys. Additionally, there have been reports of pubertal arrest and delayed puberty in male cannabis users. In contrast, other studies have reported higher testosterone levels following long-term cannabis use.A 2-year-old boy presented with testicular enlargement, increased penile length and growth of coarse pubic hair developing over 6 months. His mother procured cannabidiol oil online, which he started taking 7 months earlier for severe epilepsy refractory to medical management. Subsequent investigations confirmed central precocious puberty. While it is unclear whether the precocious puberty is a direct consequence of HPG axis activation by Δ9-THC, this case demonstrates a temporal association between cannabis use and development of precocious puberty.

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