What is a Pediatric Endocrinologist?

2021 ◽  
Keyword(s):  
Pediatric Endocrinologist

Ambiguous Genitalia

1996 ◽  
Vol 17 (6) ◽  
pp. 213-220
Author(s):  
Henry Anhalt ◽  
E. Kirk Neely ◽  
Raymond L. Hintz
Keyword(s):  
Sex Differentiation ◽  
Serum Testosterone ◽  
Ambiguous Genitalia ◽  
Psychological Needs ◽  
Clear Understanding ◽  
Treatment Trial ◽  
Adrenal Steroid ◽  
Pediatric Endocrinologist ◽  
The Family

The newborn whose genitalia are ambiguous presents a challenge to the pediatrician and the family. A clear understanding of the basis of sex differentiation and timely consultation with a pediatric endocrinologist is critical in the evaluation and determination of sex of rearing in a newborn who has ambiguous genitalia. Sex karyotype and a 17-OHP level may suffice in the initial evaluation of female pseudohermaphroditism because most patients will have virilizing CAH. If male pseudohermaphroditism is suspected on the basis of palpable gonads, we routinely obtain a karyotype, basal adrenal steroid levels, and levels of hCG-stimulated serum testosterone and DHT, then consider a testosterone treatment trial. Physicians who care for children who have ambiguous genitalia must appreciate the family's cultural, religious, and psychological needs and avoid determining sex of rearing before accurate diagnosis is reached.

Diabetic Patient

2013 ◽  
Author(s):  
Mario Patino ◽  
Anna M Varughese
Keyword(s):  
Diabetic Patient ◽  
Metabolic Disorder ◽  
Surgical Procedure ◽  
Perioperative Management ◽  
Rapid Development ◽  
Current Treatment ◽  
Diabetic Patients ◽  
Pediatric Endocrinologist ◽  
Degree Of Control

Diabetes is the most common metabolic disorder in children, and its incidence is increasing. The rapid development of new, complex regimens for treatment and the availability of many forms of insulin make the management of these patients complex and best conducted in conjunction with a pediatric endocrinologist. Perioperative management of diabetic patients requires knowing the pathophysiology, current treatment, degree of control and compliance with therapy, previous complications, and complexity and duration of the surgical procedure.

DIFFERENCES IN BONE AGE READINGS BETWEEN PEDIATRIC ENDOCRINOLOGISTS AND RADIOLOGISTS

2020 ◽  
Vol 26 (3) ◽  
pp. 328-331 ◽  
Author(s):  
Kelsey B. Eitel ◽  
Erica A. Eugster
Keyword(s):  
Short Stature ◽  
Precocious Puberty ◽  
Retrospective Chart Review ◽  
Tanner Stage ◽  
Bone Age ◽  
X Rays ◽  
Clinical Variables ◽  
Greulich And Pyle ◽  
Pediatric Endocrinologist ◽  
Greulich And Pyle Method

Objective: Pediatric endocrinologists (PEs) have historically read their own bone age (BA) X-rays based on the belief that radiologists do not accurately interpret these tests. Whether there are significant differences in BA interpretations between these two groups has not been systematically explored. The objectives of the study were to compare BA readings performed by PEs and radiologists and determine whether clinical variables were associated with discrepancies in readings. Methods: A retrospective chart review of children presenting for initial evaluation of short stature (SS) or precocious puberty (PP) who had a BA X-ray completed was performed. Clinical variables analyzed included age, gender, ethnicity, Tanner stage, body mass index, reason for referral, radiologist location (Children's vs. outside hospital), and PE and radiologist BA readings using the Greulich and Pyle method. Results: Of 103 patients aged 9 ± 3.66 years, there was a discrepancy between the PE and radiologist readings on 70 images (68%). Discrepancy ranged from −1.5 to 3.5 years, with a mean of 4 ± 12 months. Patients referred for PP were more likely to have discrepant interpretations than those referred for SS (8.4 months vs. 0.8 months; P = .007). No differences were seen in interpretations between in-house radiologists and those at outside hospitals. Conclusion: Radiologists interpreted BAs differently than PEs in the majority of images. In patients referred for PP, BAs were interpreted as being older by radiologists than by PEs, perhaps due to bias from the reason for referral. Our results provide support for continued independent BA interpretations by PEs. Abbreviations: BA = bone age; GP = Greulich and Pyle; PE = pediatric endocrinologist; PP = precocious puberty; SS = short stature

scholarly journals Congenital insulin resistance in the practice of the pediatrician and pediatric endocrinologist -path to diagnosis

2021 ◽  
pp. 272-281
Author(s):  
I. L. Nikitina ◽  
A. M. Todieva ◽  
A. S. Liskina ◽  
A. О. Plaksina ◽  
N. A. Petrova ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Developmental Disorders ◽  
Clinical Case ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Insulin Receptor Gene ◽  
C Peptide ◽  
Severe Insulin Resistance ◽  
Pediatric Endocrinologist ◽  
Fasting Hypoglycemia

Introduction. Hyperinsulinemic hypoglycemia in children is most commonly due to congenital hyperinsulinism. When hyperinsu-linemia is accompanied by fasting hypoglycemia and postprandial hyperglycemia, rare syndromes of severe insulin resistance, which include Rabson - Mendenhall syndrome, should be suspected. This article provides an analytical review of current data on this rare genetic pathology and presents a clinical case of a previously undescribed combination of Rabson-Mendenhall syndrome with mutations in the insulin receptor gene INSR in the compound heterozygous state with multiple congenital anomalies of other organs.Clinical case. Patient N, 5.5 months old boy, with suspected congenital hyperinsulinism due to episodes of frequent severe hypoglycemia from the first day of life. At the age of 5 months, an episode of hypoglycemia up to 2.2 mmol/L was registered at an appointment with a pediatric endocrinologist. An examination was ordered, which found that against a background decrease in blood glucose to 1.9 mmol/L, C-Peptide level >5000 ng/mL, insulin level >300 lU/mL, cortisol - 971 nmol/L, TSH -3.88 mlU/L, free T4 - 10.53 pmol/L (10-23.2).The importance of early diagnosis of severe insulin resistance to prevent developmental disorders in children is emphasized. The issue of organizing multiple effective monitoring of a patient’s glycemia required special attention in this clinical case. Due to the features of metabolism in young children, we abandoned flash glucose monitoring systems and used a modern glucose meter with an integration program with a mobile application and the ability to generate reports for subsequent analysis as a reliable means of glycemic control.Summary. Based on the results of the genetic study in association with the clinical phenotype, age of debut, the patient was clinically diagnosed with Rabson-Mendenhall syndrome.Discussion. The paradoxical nature of glycemic fluctuations (severe fasting hypoglycemia and postprandial diabetic hyperglycemia) is quite typical for syndromes of severe insulin resistance and should draw the attention of an informed primary care physician.Conclusion. Careful attention to the symptoms of hypoglycemia, especially with a debut in the neonatal period, recurrent episodes, and the severity of the decrease in blood glycemia. If normal or elevated levels of insulin and C-peptide are detected against the background of hypoglycemia, the first thing to think about is congenital hyperinsulinism.

scholarly journals Peculiarities of the clinical course, diagnostics, and therapy of premature sexual development in the children presenting with its idiopathic form and with hypothalamic hamartoma

2012 ◽  
Vol 58 (1) ◽  
pp. 17-22
Author(s):  
A V Bolmasova ◽  
M A Kareva ◽  
E M Orlova
Keyword(s):  
Body Weight ◽  
Sexual Development ◽  
Clinical Course ◽  
Final Height ◽  
Clinical Manifestations ◽  
Reproductive Function ◽  
Hypothalamic Hamartoma ◽  
Clinical Form ◽  
Pediatric Endocrinologist ◽  
Diagnostics And Therapy

The idiopathic form of premature sexual development (PSD) is the commonest variety among the central forms of PSD (accounting for 30 to 70% of the total). It occurs primarily in the girls. The prevalence of hypothalamic hamartoma (HH) as a cause of premature sexual development is on the whole lower, but it is most frequently diagnosed in the children of either sex under the age of 3 years with the clinical manifestations of true PSD. Diagnostics and treatment of different forms of premature sexual development constitute an appreciable part of the practical work of a pediatric endocrinologist. The efficacy of PSD therapy with luliberin analogs has been definitively demonstrated in the context of increasing the final height of the children and suppressing the progression of their sexual development. Moreover, the reversibility of the effects of luliberin analogs on the gonadostatic activity has been confirmed. Nevertheless, peculiarities of the clinical course of various etiological variants of central PSD, principles of its treatment, and its efficacy remain a matter of debate. In the present paper, the special emphasis is laid on the consequences of PSD therapy using luliberin analogs including the recovery of the process of normal puberty, effects on the reproductive function, body weight, and the dependence of the treatment on the clinical form of central PSD. The data on the peculiarities of the clinical course of premature sexual development and the efficacy of its treatment in the children with the idiopathic form of gonadotropin-dependent PSD and hamartoma-associated PSD are presented

scholarly journals Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

PLoS ONE ◽  
2020 ◽  
Vol 15 (12) ◽  
pp. e0242358
Author(s):  
Raja Brauner ◽  
Joelle Bignon-Topalovic ◽  
Anu Bashamboo ◽  
Ken McElreavey
Keyword(s):  
Genetic Heterogeneity ◽  
Hypogonadotropic Hypogonadism ◽  
Gene Mutations ◽  
Pituitary Stalk ◽  
Specific Gene ◽  
Genetic Syndromes ◽  
Pituitary Development ◽  
Pediatric Endocrinologist ◽  
Novel Variants ◽  
Pituitary Hypoplasia

Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, interrupted pituitary stalk and anterior pituitary hypoplasia, as well as in some cases, a range of heterogeneous somatic anomalies. A genetic cause is identified in only around 5% of all cases. Here, we define the genetic variants associated with PSIS followed by the same pediatric endocrinologist. Exome sequencing was performed in 52 (33 boys and 19 girls), including 2 familial cases single center pediatric cases, among them associated 36 (69.2%) had associated symptoms or syndromes. We identified rare and novel variants in genes (37 families with 39 individuals) known to be involved in one or more of the following—midline development and/or pituitary development or function (BMP4, CDON, GLI2, GLI3, HESX1, KIAA0556, LHX9, NKX2-1, PROP1, PTCH1, SHH, TBX19, TGIF1), syndromic and non-syndromic forms of hypogonadotropic hypogonadism (CCDC141, CHD7, FANCA, FANCC, FANCD2, FANCE, FANCG, IL17RD, KISS1R, NSMF, PMM2, SEMA3E, WDR11), syndromic forms of short stature (FGFR3, NBAS, PRMT7, RAF1, SLX4, SMARCA2, SOX11), cerebellum atrophy with optic anomalies (DNMT1, NBAS), axonal migration (ROBO1, SLIT2), and agenesis of the corpus callosum (ARID1B, CC2D2A, CEP120, CSPP1, DHCR7, INPP5E, VPS13B, ZNF423). Pituitary stalk interruption syndrome is characterized by a complex genetic heterogeneity, that reflects a complex phenotypic heterogeneity. Seizures, intellectual disability, micropenis or cryptorchidism, seen at presentation are usually considered as secondary to the pituitary deficiencies. However, this study shows that they are due to specific gene mutations. PSIS should therefore be considered as part of the phenotypic spectrum of other known genetic syndromes rather than as specific clinical entity.

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.

Sign in / Sign up

Export Citation Format

Share Document