hrp0089fc2.2 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Whole Genome Sequencing Reveals Novel Intragenic Deletions of GNAS as Causes of Pseudohypoparathyroidism Type 1a

Li Dong , Bupp Caleb , Hakonarson Hakon , Levine Michael

Background: Pseudohypoparathyroidism type 1a (PHP1a) is characterized by Albright hereditary osteodystrophy (AHO) and multi-hormone resistance, most commonly to parathyroid hormone (PTH) and thyroid-stimulating hormone. This rare disorder is caused by inactivating mutations involving exons 1–13 of the imprinted GNAS gene that encodes the alpha-subunit of the stimulatory G protein (Gαs). Due to paternal imprinting of Gαs transcripts, GNAS mutati...

hrp0089fc12.1 | Diabetes and Insulin 2 | ESPE2018

Continuous Glucose Monitoring Profiles in Healthy Non-Diabetic Children and Adolescents: A Multicenter Prospective Study

DuBose Stephanie , Li Zoey , Beck Roy , Tamborlane William

Since CGM-based outcomes that are increasingly being used in clinical pediatric diabetes research, this study was aimed at gathering normative sensor data in healthy, non-diabetic children using the recently approved DexCom G6 system. In this multicenter study, healthy, non-diabetic children and adolescents (age 7 to <18 years, BMI between 5th and 85th percentile, and HbA1c <5.7%) were included. Each participant wore a blinded DexCom G6 for approx. 10 days and kept a d...

hrp0089p2-p151 | Fat, Metabolism and Obesity P2 | ESPE2018

The Age of Pubertal Onset Correlates with Pubertal Growth Pattern and Body Weight Change in Girls

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei

Background: Precocious puberty in girls may result in loss of FAH, and particularly may relates to obesity when entering adulthood. However,The influence of the timing of pubertal onset on the FAH and the change of body weight during pubertal stages is still controversial.Objective: The research is to investigate the pubertal growth pattern and the change of BMI levels in girls with ICPP and those who have normal onset of puberty but at different ages.</...

hrp0089p2-p336 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Mutation in 5’; Untranslation Region of Makorin Ring Finger 3 Gene Associated with the Familial Precocious Puberty

Lu Wenli , Wang Junqi , Li Chuanyin , Hu Ronggui , Wang Wei

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...

hrp0089lb-p15 | Late Breaking P1 | ESPE2018

A Novel Compound Heterozygous Mutation of the CYP17A1 Gene is Associated with Rhabdomyolysis: Demonstration of Combining 17α-hydroxylase/17,20-Lyase Deficiency

Chen Hong , Wang Chunlin , Liang Li , Yan Qingfeng

Objective: To investigate the clinical and molecular characteristics of a girl with 17α hydroxylase/17,20-lyase deficiency, of which, onset was as rhabdomyolysis and hypokalemia. And then we identified the functional consequences of two novel CYP17A1 mutations.Materials and Methods: A 11 years old girl, 46,XX karyotypes, presented with rhabdomyolysis, hypokalemia and hypertension. She had elevated levels of plasma adrenocorticotropic hormone, serum ...

hrp0086p2-p94 | Adrenal P2 | ESPE2016

11β- Hydroxylase Deficiency due to a Novel Compound Heterozygous Mutation and Literature Review

Wu Wei , Dong Guanping , Li Yun , Wang Jinling

Background: The incidence of 11β-hydroxylase deficiency is quite low in China, less is reported about the gene mutation in Chinese population.Objective and hypotheses: To analyze the clinical features and CYP11B1 gene mutations of a family with 11β-hydroxylase deficiency (11β-OHD) and literature review were also included.Method: Physical examination and laboratory tests were done on a 4 years old girl and gene mutati...

hrp0086p1-p377 | Gonads &amp; DSD P1 | ESPE2016

Effect and Safety Aspects of Percutaneous Administration of Dihydrotestosterone in Children with Micropenis with Different Genetic Background

Luo Feihong , Xu Dan , Xi Li , Cheng Ruoqian , Lu Liangsheng

Background: Micropenis may result from different aetiology and therapy data are still scarce.Objective and hypotheses: To investigate the effect and safety of dihydrotestosterone transdermal gel in children with micropenis.Method: Totally 23 agnogenic micropenis children with 46,XY karyotype were recruited to participate a perspective study. SRY, AR and SRD5A2 gene were sequenced. 2.5% DHT gel was applied individually based on the ...

hrp0086p2-p712 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Clinical Assessment of Hypercalciuria and Hypomagnesemia in Patients with Bartter Syndrome and Gitelman Syndrome

Li Wenjing , Gong Chunxiu , Su Chang , Cao Bingyan , Wu Di

Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. It’s hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.Objective a...

hrp0082p2-d2-603 | Thyroid (1) | ESPE2014

Euthyroid Sick Syndrome in Children with Diabetic Ketoacidosis

Hu Yanyan , Li Guimei , Wang Qian , Wang Zengmin , Wang Fengxue

Background: The correlation between free thyroid hormones and poor diabetic control in children with diabetic ketoacidosis (DKA) and the effects of thyroid hormone therapy on euthyroid sick syndrome (ESS) remain unclear.Objective and hypotheses: To investigate characteristics of ESS in children with DKA and the effects of thyroid hormone therapy on ESS. In children with DKA, free thyroid hormones may be associated with the severity of DKA and thyroid hor...

hrp0082p3-d1-762 | Fat Metabolism &amp; Obesity | ESPE2014

A Rare Case of Sea-Blue Histiocytosis Associated with Niemann–Pick Disease Type B in a 8-year and 9-month Old Boy with Hypertension

Ma Hua-mei , Su Zhe , Li Yan-hong

Background: Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism.Objective and hypotheses: To present a Chinese boy of hypertension and sea-blue histiocytosis secondary to Niemann–Pick disease type B.Methods: Diagnosis was confirmed by the bone marrow aspiration and the specific enzyme assay of leukocytes (def...