Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal di

Abstract:

:This paper reports the case of an infant presenting with sexual ambiguity at birth. The child presented with labia majora synechia, thready genital tubercle and perineal hypospadias. The karyotype was 46,XY. Low testosterone levels with no response to hCG administration, associated with high LH level for her age, high FSH level, high inhibin B levels and normal AMH indicated a lack of LH receptivity and prompted us to screen the LHCGR gene for mutations. A previously described missense mutation (p.Cys131Arg) was identified at homozygous state in the propositus and at heterozygous state in the mother. This variation, however, was not found in the father. Our attention was drawn by the presence of several single nucleotide polymorphisms (SNPs), identified at homozygous state without any paternal contribution from exon 1 to exon 10 of LHCGR, suggesting a paternal deletion. Array DNA analysis was performed revealing a large deletion extending from 61,493 to 135,344 bp and including the LHCGR gene. Adequate genetic counselling was provided. This paper describes the first application of prenatal diagnosis in LHCGR deficiency for 46,XY disorders of sex development with the subsequent delivery of a normal baby.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Richard N,Leprince C,Gruchy N,Pigny P,Andrieux J,Mittre H,Manouvrier S,Lahlou N,Weill J,Kottler ML

doi

10.1507/endocrj.k11e-119

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

769-76

issue

9

eissn

0918-8959

issn

1348-4540

pii

JST.JSTAGE/endocrj/K11E-119

journal_volume

58

pub_type

杂志文章
  • SGLT2 inhibitors provide an effective therapeutic option for diabetes complicated with insulin antibodies.

    abstract::Diabetes mellitus complicated with insulin antibodies is rare in clinical practice but usually difficult to control. A high amount of insulin antibodies, especially with low affinity and high binding capacity, leads to unstable glycemic control characterized by hyperglycemia unresponsive to large volume of insulin and...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ15-0523

    authors: Hayashi A,Takano K,Kawai S,Shichiri M

    更新日期:2016-01-01 00:00:00

  • TSH influences serum leptin levels independent of thyroid hormones in hypothyroid and hyperthyroid patients.

    abstract::Leptin is considered to play a role in maintenance of energy balance and body weight by neuroendocrine mechanisms. The physiological mechanisms for thyroid hormone-induced alteration in serum leptin are not well known. In the present study, the relationship between thyroid hormones and leptin levels was investigated i...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.52.213

    authors: Oge A,Bayraktar F,Saygili F,Guney E,Demir S

    更新日期:2005-04-01 00:00:00

  • Immunolocalization of transforming growth factor-beta1 during follicular development and atresia in the mouse ovary.

    abstract::In each estrous cycle not all follicles recruited grow to ovulate, as some degenerate through the process of atresia. Apoptosis is the mechanism underlying follicle atresia. TGF-beta1 has been implicated in the induction and promotion of apoptosis in many cell types and it is expressed in the ovary. In this study immu...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.47.475

    authors: Christopher B

    更新日期:2000-08-01 00:00:00

  • Pancreas volume reduction and metabolic effects in Japanese patients with severe obesity following laparoscopic sleeve gastrectomy.

    abstract::This study aimed to assess the relationship between the metabolic effect after laparoscopic sleeve gastrectomy (LSG) in morbidly obese Japanese patients, with or without type 2 diabetes mellitus (T2DM), and improved pancreatic steatosis (PS). The study enrolled 27 morbidly obese Japanese patients who were undergoing L...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ16-0321

    authors: Umemura A,Sasaki A,Nitta H,Baba S,Ando T,Kajiwara T,Ishigaki Y

    更新日期:2017-05-30 00:00:00

  • Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese.

    abstract::The identification of unique point mutations in patients with pseudohypoparathyroidism (PHP) with Albright's hereditary osteodystrophy (AHO) in different ethnic backgrounds has proved that defects within the Gs alpha gene account for Gs alpha deficiency in those patients. To search a mutation hot spot of the Gs alpha ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.44.621

    authors: Takeda K,Yokoyama M,Hashimoto K,Hiromatsu Y,Yamanaka H,Shimizu T,Sasaki M

    更新日期:1997-08-01 00:00:00

  • Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis.

    abstract::We report a de novo heterozygous 5,013,940 bp terminal deletion of chromosome 15q26 in a 13 9/12 -year-old Japanese girl with short stature (-3.9 SD), mild mental retardation, and ventricular septal defect (VSD). This terminal deletion involved IGF1R but not NR2F2, and was associated with an addition of telomere repea...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k10e-251

    authors: Dateki S,Fukami M,Tanaka Y,Sasaki G,Moriuchi H,Ogata T

    更新日期:2011-01-01 00:00:00

  • Mutation of RET proto-oncogene in Japanese patients with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

    abstract::To determine whether patients with medullary thyroid carcinoma (MTC) develop other endocrine neoplasms or their relatives develop MTC, we investigated the mutations in the RET proto-oncogene in patients with multiple endocrine neoplasia type 2B (MEN 2B, N = 1) and sporadic MTC (N = 6). DNA from MTC tissue and the peri...

    journal_title:Endocrine journal

    pub_type: 临床试验,杂志文章

    doi:10.1507/endocrj.44.559

    authors: Migita M,Hiromatsu Y,Sato M,Yang D,Kameo J,Jimi A,Nonaka K

    更新日期:1997-08-01 00:00:00

  • Tissue-specific changes in insulin receptor mRNA concentrations in dexamethasone-treated and adrenalectomized rats.

    abstract::The relative concentrations of total insulin receptor (IR) mRNA were measured in the epididymal adipose tissue and liver of intact untreated rats, dexamethasone-treated rats, adrenalectomized rats and adrenalectomized rats treated with dexamethasone, using RNA blot assays and a specific IR cDNA probe. Northern blot as...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.41.737

    authors: Leal MA,Aller P,Mas A,Carranza MC,Calle C

    更新日期:1994-12-01 00:00:00

  • Human pituitary adenomas infrequently contain inactivation of retinoblastoma 1 gene and activation of cyclin dependent kinase 4 gene.

    abstract::Components of cyclinD1/cyclin-dependent kinase 4 (CDK4)/p16INK4a/pRb pathway are the frequent target of many tumor types. We examined the role of retinoblastoma susceptibility gene (RB1) and the CDK4 gene in human pituitary tumorigenesis. For the RB1 gene, pRb expression and loss of heterozygosity (LOH) on 13q in pitu...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.50.309

    authors: Honda S,Tanaka-Kosugi C,Yamada S,Sano T,Matsumoto T,Itakura M,Yoshimoto K

    更新日期:2003-06-01 00:00:00

  • Erdheim-Chester disease: report of a case with PCR-based analysis of the expression of osteopontin and survivin in Xanthogranulomas following glucocorticoid treatment.

    abstract::Erdheim-Chester disease (ECD) is a form of non-Langerhans histiocytosis. In this report, we show a case of ECD presenting diabetes insipidus and multiple xanthogranulomas received glucocorticoid treatment over a year. During this period, xanthogranulomas improved in response to the glucocorticoid therapy. Furthermore,...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k07e-044

    authors: Taguchi T,Iwasaki Y,Asaba K,Yoshida T,Takao T,Ikeno F,Nakajima H,Kodama H,Hashimoto K

    更新日期:2008-03-01 00:00:00

  • Nucleobindin-2 is a positive regulator for insulin-stimulated glucose transporter 4 translocation in fenofibrate treated E11 podocytes.

    abstract::The physiology of insulin signaling under normal and disease conditions is well studied in classical insulin target tissues, but not in podocytes. To examine insulin stimulation of podocyte GLUT4 translocation, we established a protocol involving treatment with the PPARα agonist fenofibrate to induce E11 podocyte diff...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej14-0330

    authors: Saito T,Yamada E,Okada S,Shimoda Y,Tagaya Y,Hashimoto K,Satoh T,Mori M,Okada J,Pessin JE,Yamada M

    更新日期:2014-01-01 00:00:00

  • Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A (Sipple's syndrome).

    abstract::Genetic linkage analyses have traced the loci for multiple endocrine neoplasia type 2A (MEN 2A) to an interval on chromosome 10q11.2. This region encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in medullary thyroid carcinoma (MTC) and pheochromocytoma. By means of genomic polymerase chain...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.42.527

    authors: Oishi S,Sato T,Takiguchi-Shirahama S,Nakamura Y

    更新日期:1995-08-01 00:00:00

  • Developmental changes in hypothalamic SF-1, POMC, and ERα mRNA expression and their sensitivity to fasting in male and female rats.

    abstract::Estrogen plays pivotal roles in body weight regulation through its effects on central estrogen receptor-α (ERα) expression. ERα is found on neurons that express the hypothalamic anorexigenic factors steroidogenic factor-1 (SF-1) and pro-opiomelanocortin (POMC) mediate these effects of estrogen. As the gonadal hormonal...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ17-0140

    authors: Iwasa T,Matsuzaki T,Mayila Y,Yano K,Irahara M

    更新日期:2017-12-28 00:00:00

  • Individualization of recommendations from the international consensus on continuous glucose monitoring-derived metrics in Japanese children and adolescents with type 1 diabetes.

    abstract::We assessed the significance of recommendations from the international consensus on continuous glucose monitoring (CGM)-derived metrics in Japanese children and adolescents with type 1 diabetes. Eighty-five patients (age, 13.5 ± 4.7 years) who wore the FreeStyle® Libre for a 28-day period were enrolled in this study. ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ20-0193

    authors: Urakami T,Yoshida K,Kuwabara R,Mine Y,Aoki M,Suzuki J,Morioka I

    更新日期:2020-10-28 00:00:00

  • Early detection of infants with hypophosphatemic vitamin D resistant rickets (HDRR).

    abstract::The onset of physical signs in infants with hypophosphatemic vitamin D resistant rickets (HDRR) has generally been considered to be at the age of 12 months, but the time of appearance of hypophosphatemia and rachitic signs on radiographs remains unclear. We report a prospective study in three neonates whose mothers we...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.43.339

    authors: Minamitani K,Minagawa M,Yasuda T,Niimi H

    更新日期:1996-06-01 00:00:00

  • Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment.

    abstract::A nationwide epidemiologic survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases was conducted in 2010 to clarify the prevalence and the clinical presentations of the disorders. A questionnaire inquiring the experience of patients with these diseases was sent to randomly selected hospitals th...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ15-0275

    authors: Endo I,Fukumoto S,Ozono K,Namba N,Inoue D,Okazaki R,Yamauchi M,Sugimoto T,Minagawa M,Michigami T,Nagai M,Matsumoto T

    更新日期:2015-01-01 00:00:00

  • A case of factitious adrenal insufficiency after vascular graft surgery caused by spurious immunometric assays.

    abstract::A 70-year-old man with abdominal aortic aneurysm underwent surgical repair with Hemashield vascular graft. Postoperatively, he was found to have very low plasma cortisol levels, which failed to increase after stimulation with ACTH. A tentative diagnosis of adrenal insufficiency was made despite the lack of its clinica...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k06-006

    authors: Sakai H,Matsumoto K,Sugiyama M,Yoshimoto T,Doi M,Izumiyama H,Hirata Y

    更新日期:2006-06-01 00:00:00

  • Effect of triptolide on estradiol release from cultured rat granulosa cells.

    abstract::Triptolide, a major active component of Tripterygium wilfordii Hook F (TWHF), is known to have multiple pharmacological activities. However, studies have also shown that triptolide is highly toxic to the reproductive system by disrupting normal androgen and estrogen signaling. In the present study, we investigated the...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej11-0407

    authors: Zhang J,Liu L,Mu X,Jiang Z,Zhang L

    更新日期:2012-01-01 00:00:00

  • Inappropriate elevation of intact PTH in the presence of normocalcemia after successful surgery for primary hyperparathyroidism.

    abstract::We describe here a patient with primary hyperparathyroidism who had high serum intact PTH levels for over 16 months after parathyroidectomy without signs of recurrence or persistence of the disease. The patient was a 48-year-old female who appeared well nourished (body mass index, 23.7). She was received subtotal gast...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.45.609

    authors: Mimura Y,Kanauchi H,Ogawa T,Ohkura F,Kaminishi M

    更新日期:1998-10-01 00:00:00

  • Impaired β-cell function and decreased insulin sensitivity in subjects with normal oral glucose tolerance but isolated high glycosylated hemoglobin.

    abstract::The pathophysiology is distinct in various state of glucose metabolism abnormalities. As the defect of individuals with normal oral glucose tolerance (NGT) but isolated high glycosylated hemoglobin (HbA1c), i.e. iHH, was ambiguous, we aimed to investigate the insulin sensitivity and β-cell function of iHH. According t...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ17-0325

    authors: Fu Q,Sun M,Wang Z,He W,Duan Y,Yang T

    更新日期:2018-01-30 00:00:00

  • Emergence of anti-islet autoantibodies in Japanese patients with type 1 diabetes.

    abstract::Circulating anti-islet autoantibodies in sera are used as a predictive marker for type 1 diabetes (T1D). We here report two Japanese patients with autoimmune thyroid disease complicated with T1D in whom the time course of anti-islet autoantibodies were observed before the clinical onset of diabetes. Case 1: A woman wh...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k10e-068

    authors: Horie I,Kawasaki E,Shimomura A,Satoh T,Ueki I,Kuwahara H,Ando T,Abiru N,Usa T,Eguchi K

    更新日期:2010-01-01 00:00:00

  • The role of small proliferative adipocytes in the development of obesity: comparison between Otsuka Long-Evans Tokushima Fatty (OLETF) rats and non-obese Long-Evans Tokushima Otsuka (LETO) rats.

    abstract::Obesity consists of hypertrophy and hyperplasia of adipocytes. Although the number of adipocytes is influenced by anatomical location, nutritional environment, hormone and genetic variation, it has been thought to be determined by the proliferation of precursor cells and subsequent differentiation. However, our recent...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej13-0053

    authors: Hanamoto T,Kajita K,Mori I,Ikeda T,Fujioka K,Yamauchi M,Okada H,Usui T,Takahashi N,Kitada Y,Taguchi K,Kajita T,Uno Y,Morita H,Ishizuka T

    更新日期:2013-01-01 00:00:00

  • Conophylline and betacellulin-delta4: an effective combination of differentiation factors for pancreatic beta cells.

    abstract::Conophylline and betacellulin-delta4 reproduce differentiation-inducing activity of activin A and betacellulin, respectively. We examined the effect of conophylline and betacellulin-delta4 on beta cell differentiation. In AR42J cells, conophylline and betacellulin-delta4 converted them into insulin-producing cells. Ce...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k06-199

    authors: Kitamura R,Ogata T,Tanaka Y,Motoyoshi K,Seno M,Takei I,Umezawa K,Kojima I

    更新日期:2007-04-01 00:00:00

  • Prognostic significance of serum soluble Fas level and its change during regression and progression of advanced prostate cancer.

    abstract::To evaluate the clinical usefulness of serum soluble Fas (sFas) and sFas ligand as a prognostic factor and for monitoring the regression and progression of metastatic prostate cancer treated with endocrine therapy, sFas and sFas ligand were measured in sera collected from 30 patients with untreated metastatic prostate...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.50.629

    authors: Furuya Y,Nagakawa O,Fuse H

    更新日期:2003-10-01 00:00:00

  • Relationship between daily and visit-to-visit glycemic variability in patients with type 2 diabetes.

    abstract::The aim of the study was to explore the relationship between daily glycemic variability (GV) and visit-to-visit glycemic variability (VVV) in patients with type 2 diabetes (T2DM). A total of 156 outpatients with T2DM who had undergone continuous glucose monitoring (CGM) for 5 days were included in this study. Indices ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ20-0012

    authors: Tsuchiya T,Saisho Y,Murakami R,Watanabe Y,Inaishi J,Itoh H

    更新日期:2020-08-28 00:00:00

  • Bone mineral density in treated at a young age for differentiated thyroid cancer after Chernobyl female patients on TSH-suppressive therapy receiving or not Calcium-D3 supplementation.

    abstract::Long-term management of patients with differentiated thyroid cancer (DTC) commonly includes TSH-suppressive therapy with L-T4 and, in case of postsurgical hypoparathyroidism, Calcium-D3 supplementation, both of which may affect skeletal health. Experience with female patients treated for DTC at a young age and who wer...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ14-0408

    authors: Leonova TA,Drozd VM,Saenko VA,Mine M,Biko J,Rogounovitch TI,Takamura N,Reiners C,Yamashita S

    更新日期:2015-01-01 00:00:00

  • Rosiglitazone attenuates casein-induced hepatic endoplasmic reticulum stress in Sprague-Dawley rats: a novel model of endoplasmic reticulum stress.

    abstract::The proteins found in cow milk have been reported to cause systemic inflammation. Endoplasmic reticulum (ER) stress is known to be involved in the development of several metabolic disorders including insulin resistance and non-alcoholic fatty liver disease. However, the effect of thiazolidinediones (TZDs) on ER stress...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej13-0167

    authors: Kang SB,Kim HM,Kim HJ,Seok H,Huh JH,Lee BW,Kang ES,Lee HC,Cha BS

    更新日期:2013-01-01 00:00:00

  • Two cases of empty sella syndrome with variable dexamethasone-suppressibility of ACTH and cortisol.

    abstract::We here describe two patients with empty sella syndrome who had variable and abnormal ACTH and cortisol secretory profiles. The patients are a 58-year old male and a 41-year old female, both of whom were neurotic. In both cases, low-dose dexamethasone suppression tests (1 mg, p.o., overnight) caused variable responses...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.43.417

    authors: Sakaguchi H,Inoue D,Kataoka K,Koshiyama H,Aoki N,Nakao K

    更新日期:1996-08-01 00:00:00

  • Ultrasonographic features of parathyroid carcinoma.

    abstract::Although several authors have reported single cases illustrative of some ultrasonographic characteristic of parathyroid carcinoma, the value of ultrasonography for diagnosing this entity remains to be determined. The purpose of our study was to investigate the ultrasonographic features of parathyroid carcinoma in a la...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.48.213

    authors: Hara H,Igarashi A,Yano Y,Yashiro T,Ueno E,Aiyoshi Y,Ito K,Obara T

    更新日期:2001-04-01 00:00:00

  • 20 kDa human growth hormone (20K hGH) stimulates insulin-like growth factor-I (IGF-I) gene expression at lower concentrations than 22K hGH in hGH receptor-expressing Ba/F3 cells.

    abstract::Growth hormone (GH) secreted from the pituitary is essential for postnatal growth in animals. GH exerts its actions by a direct effect on target organs and by stimulating insulin-like growth factor I (IGF-I) production. In the human pituitary, there is a naturally occurring variant protein which has a molecular mass o...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.47.supplmarch_s37

    authors: Yoshizato H,Tanaka M,Fujikawa T,Higashimoto Y,Shimizu A,Nakashima K

    更新日期:2000-03-01 00:00:00