... factor 2 (DUOXA2), together with dual oxidase 2, serves pivotal roles in thyroid hormone biosynthesis. To date, all reported patients with DUOXA2 mutations were diagnosed postnatally through newborn screening for congenital hypothyroidism. Case Report: The mother of a male fetus presented at 33 + 4...

...-gonadal axis in the absence of organic disease. Up to now, just gain-of-function mutations of KISS1/KISS1R and loss-of-function mutations of the maternally imprinted gene MKRN3 are the known genetic causes of ICPP. Our intention is to evaluate variants present in genes related to the pubertal onset...

... of several conditions that result from mutations in the gene INSR , which encodes the human insulin receptor. The latter is a heterodimer of 4 subunits: 2 extracellular α-subunits that bind insulin and 2 β-subunits that are mainly intracellular. The β-subunit is bound to the α-subunit by a disulfide bond...

... intronic homozygote mutation (IVS9+5G>A) in a 46,XX DSD girl presenting spontaneous breast development and primary amenorrhea, and to evaluate similar splicing variant expression in normal steroidogenic tissues. Methods: Genomic DNA analysis, splicing prediction programs, splicing assays, and in vitro...

... associated with deafness. Recently, mutations in SOX10 , a well-known causative gene of Waardenburg syndrome (WS) characterized by deafness, skin/hair/iris hypopigmentation, Hirschsprung disease, and neurological defects, have been identified in a few patients with KS and deafness. However, the current...

...E. Nazlı Gonc; Alev Ozon; Ayfer Alikasifoglu; Mithat Haliloğlu; Sian Ellard; Charles Shaw-Smith; Nurgun Kandemir Neonatal diabetes is a rare form of diabetes, characterized by onset in the first 6 months of life. A number of cases are due to pancreas agenesis. Recently, PTF1A enhancer mutations...

... for normal development and growth. IGF1R mutations cause IGF-1 resistance resulting in intrauterine and postnatal growth failure. The phenotypic spectrum related to IGF1R mutations remains to be fully understood. Methods: Auxological and endocrinological data of a patient identified previously were assessed...

...Makoto Fujiwara; Noriyuki Namba; Kohji Miura; Taichi Kitaoka; Haruhiko Hirai; Hiroki Kondou; Tsunesuke Shimotsuji; Chikahiko Numakura; Keiichi Ozono Background: Maturity-onset diabetes of the young (MODY) is a subgroup of monogenic diabetes mellitus, of which MODY1, caused by HNF4A mutations...

... is caused by mutations in the CYP11B1 gene. Objective: To identify the mutation causing 11OHD in a Chinese pedigree and analyze the functional consequences and phenotype associated with this mutation. Methods: A Chinese family with 11OHD was screened for mutations in the CYP11B1 gene. Mini-gene experiment...

...Mohammad Abduljabbar; Khalid Taheini; Jean-Yves Picard; Richard L. Cate; Nathalie Josso Our goal was to compare phenotype and genotype in two extended Middle-Eastern families affected by persistent Müllerian duct syndrome due to mutations of the type II anti-Müllerian hormone receptor (AMHR-II...

...Debra D. Jeandron; Taninee Sahakitrungruang Background: 3β-hydroxysteroid dehydrogenase (3βHSD) type 2 (encoded by HSD3B2 ) is expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of congenital adrenal hyperplasia ‘3βHSD deficiency’. In its classic form, affected individuals...

... challenges. No treatment guidelines are available. Objectives: To describe the features of pediatric somatotropinomas and to assess therapeutic strategies based on an extensive literature review. Design: We describe a pediatric case of aggressive somatotropinoma with an AIP mutation. We identified 137...

...Manna Zhang; Jun Yang; Huijie Zhang; Guang Ning; Xiaoying Li; Shouyue Sun Objective: To investigate the functional change of SRD5A2 gene mutations identified in patients with 5α-reductase type 2 deficiency. Patients and Methods: Three unrelated subjects born with ambiguous genitalia were included...

... specialized homodimeric glycoprotein for thyroid hormone biosynthesis. Mutations in the TG gene lead to permanent congenital hypothyroidism. The presence of low TG level and also normal perchlorate discharge test in a goitrous individual suggest a TG gene defect. Until now, 52 mutations have been identified...

...Huiwen Zhang; Yi Wang; Lianshu Han; Xuefan Gu; Dingping Shi Background: Familial combined pituitary hormone deficiency (CPHD) appears to have a genetic cause, PROP1 gene mutations being the most common one. We investigated whether PROP1 plays a role in two Chinese familial cases of CPHD...

..., with a diminished growth response when the PTPN11 mutation is present. Conclusion: Data on the benefits of GH treatment during childhood and adolescence upon the final height are encouraging in individuals with NS. There is a substantial height gain during prepubertal years, which continues during the pubertal...

...R. Pfäffle; C. Kim; B. Otten; J.-M. Wit; U. Eiholzer; G. Heimann; J. Parks Pit-1 is a transcription factor which is expressed in the somatotrope, lactotrope, and thyrotrope cell population of the anterior pituitary gland from early fetal development throughout life. Mutations in the Pit-1 gene...

... mutations of the insulin gene as the source of insulin resistance have been reported for a long time. More recently a series of mutations of the insulin receptor gene have been identified as the cause of the extreme insulin resistance, observed in rare syndromes, such as type A insulin resistance...

... chain. Germline mutations in the genes encoding SDHB and SDHD have been reported in familial paragangliomas/pheochromocytomas and in apparently sporadic pheochromocytomas. SDHB and SDHD mutations are widely distributed along the genes with no apparent hot spots. SDHB mutations are often detected...

... of this pathway are gain-of-function mutations of PTPN11 , which are associated with a mild form of growth hormone (GH) resistance and insulin-like growth factor I (IGF-I) deficiency, presumably due to interference with the Janus kinase 2 and signal transducer and activator of transcription 5b (JAK2-STAT...