Ivo J.P. Arnhold

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

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Berenice B. Mendonça

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

315

Alexander A.L. Jorge

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

116

Ana Cláudia Latronico

Universidade de São Paulo

Tânia A.S.S. Bachega

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Luciani R. Carvalho

Universidade de São Paulo

Marlene Inácio

Centro Universitário das Faculdades Metropolitanas Unidas

Elaine Maria Frade Costa

Hospital Universitário da Universidade de São Paulo

Guiomar Madureira

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Sorahia Domenice

Universidade de São Paulo

Frederico A. Queiroz Silva

Universidade de São Paulo

Cooperative Institutions

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

293

Universidade de São Paulo

291

Universidade Brasil

Consejo Nacional de Investigaciones Científicas y Técnicas

Inserm

University of Michigan–Ann Arbor

Boston Children's Hospital

Hospital General de Niños Ricardo Gutierrez

Hospital de Clínicas

Hospital Universitário da Universidade de São Paulo

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Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Arquivos Brasileiros de Endocrinologia & Metabologia (2008)

Mariana F.A. Funari Alexander A.L. Jorge Emília M. Pinto Ivo J.P. Arnhold Berenice B. Mendonça

LWD is associated to SHOX haploinsufficiency, in most cases, due to gene deletion. Generally FISH and microsatellite analysis are used to identify SHOX deletion. MLPA is a new method of detecting gene copy variation, allowing simultaneous analysis of several regions. Here we describe the presence of a SHOX intragenic deletion in a family with LWD, analyzed through different methodologies. Genomic DNA of 11 subjects from one family were studied by microsatellite analysis, direct sequencing and MLPA. FISH was performed in two affected individuals. Microsatellite analysis showed that all affected members shared the same haplotype suggesting the involvement of SHOX. MLPA detected an intragenic deletion involving exons IV-VIa, which was not detected by FISH and microsatellite analysis. In conclusion, the MLPA technique was proved to be the best solution on detecting this small deletion, it has the advantage of being less laborious also allowing the analysis of several regions simultaneously.

Haploinsufficiency

Multiplex

10.1590/s0004-27302008000800029

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Analysis of the insulin‐like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp)

Clinical Endocrinology (2012)

Andrea C. Leal Luciana Ribeiro Montenegro Renata de Freitas Saito T.C. Ribeiro Débora Coutinho

Insulin-like growth factor 1 insensitivity caused by IGF1R mutations has been previously identified as one of the causes of growth impairment in children born small for gestational age (SGA).To analyse the IGF1R in children born SGA.From an initial cohort of 54 sequential children born SGA, without catch-up growth, 25 children were selected for this IGF1R study due to the presence of serum IGF-1 values above the mean for their age and sex.The proximal IGF1R promoter region, the entire coding region and the exon-intron boundaries were directly sequenced, and multiplex ligation-dependent probe amplification analysis was performed. Fibroblast cultures were developed from one patient with a mutation for the in vitro characterization of IGF-1 insensitivity.The copy number variation analysis did not identify deletions involving the IGF1R gene. We identified two children carrying heterozygous nucleotide substitutions in IGF1R: c.16G>A/p.Gly6Arg and c.1531C>T/p.Arg511Trp. The first variant (p.Gly6Arg) was identified in control subjects (0·3%) and in a relative with normal growth; thus, it was considered to be a rare benign allelic variation. The second variant (p.Arg511Trp) was not found in 306 alleles from control subjects, and it segregated with the growth impairment phenotype in the patient's family. Fibroblasts obtained from this patient had a significantly reduced proliferative response and AKT phosphorylation after IGF-1 stimulation compared with control fibroblasts.The identification of an inactivating IGF1R mutation in the present cohort should encourage further studies of larger series to establish the precise frequency of this molecular defect in children with growth impairment of a prenatal onset.

10.1111/cen.12048

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High Prevalence of Pituitary Magnetic Resonance Abnormalities and Gene Mutations in a Cohort of Brazilian Children with Growth Hormone Deficiency and Response to Treatment

Journal of Pediatric Endocrinology and Metabolism (2008)

Manuela Giuliani Marcondes Rocha Frederico Guimarães Marchisotti Maria Geralda Farah Osório Suemi Marui Luciani R. Carvalho

Data were retrospectively collected from 69 Brazilian patients (45 boys) with growth hormone deficiency (GHD) who received exogenous growth hormone (GH) for a median duration of 4 years (range 1-13 years). Forty-two patients had multiple pituitary hormone deficiencies and 27 had isolated GHD. Peak GH was < 7 ng/ml (IRMA) or < 3.2 ng/ml (IFMA) after two stimulation tests. Therapy was started at median age of 10.0 years (range 2.2-21.6 years), bone age of 5.8 years (0.5-13.5 years) and height standard deviation score -4.4 (range -9.3 to -1.6). MRI revealed pituitary abnormalities in 87% of patients. Homozygous mutations in PROP-1, GHRH-R, GH-1 or HESX-1 genes were found in 12 patients. Mean height velocities were 3.3 pretreatment and 10.3, 7.8, 7.4 and 6.4 cm/yr, respectively, during 1-4 years of treatment with GH. In conclusion, the high prevalence (96%) of genetic and/or pituitary abnormalities probably reflects the stringent diagnostic criteria used, and GH replacement resulted in significant catch-up growth.

10.1515/jpem.2008.21.7.673

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Contents Vol. 80, 2013

Hormone Research in Paediatrics (2013)

M.J.E. Walenkamp Jürgen Klammt Eva Feigerlová Monique Losekoot Hermine A. van Duyvenvoorde

10.1159/000357577

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IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children

Journal of Pediatric Endocrinology and Metabolism (2019)

Thais H. Inoue-Lima Gabriela A. Vasques Renata C. Scalco Marilena Nakaguma Berenice B. Mendonça

Background When evaluating peripubertal short stature patients, the interpretation of insulin-like growth factor 1 (IGF-1) levels based on chronological age (CA) can be inaccurate due to the influence of sex steroids and, presently, there is no evidence to support the assessment of IGF-1 values according to bone age (BA) and pubertal status (PS). Our objective was to assess the discriminatory performance of IGF-1 levels based on CA, BA and PS in the diagnosis of growth hormone (GH) deficiency. Methods We evaluated IGF-1 levels from 154 peripubertal short stature patients classified as GH deficient (GHD, n=23) or non-GHD (n=131). IGF-1 was assayed by a chemiluminescent immunometric assay and transformed into standard deviation scores (SDS) according to CA (IGF-1-SDS-CA), BA (IGF-1-SDS-BA) and PS (IGF-1-SDS-PS). Results The performances of IGF-1-SDS-CA, IGF-1-SDS-BA and IGF-1-SDS-PS in the receiver operator characteristics (ROC) curves were similar. There were greater accuracy and specificity of IGF-1-SDS-PS (98.4% and 93.3%, respectively) and IGF-1-SDS-BA (92.7% and 90.1%, respectively) when compared to IGF-1-SDS-CA (65.6% and 69.5%, respectively). The post-test probability of the IGF-1-SDS was also improved when compared to PS and BA - 44.8% (IGF-1-SDS-PS), 16.8% (IGF-1-SDS-BA) and 5.1% (IGF-1-SDS-CA), with similar negative predictive values. Conclusions The evaluation of IGF-1 levels based on CA has a higher sensitivity than those based on BA or PS, which justify its use as a screening tool. Additionally, IGF-1 assessed by PS has the best positive predictive power for GHD diagnosis in peripubertal age and could reduce the necessity of a second GH stimulation test.

Predictive power

10.1515/jpem-2018-0435

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Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene

Fertility and Sterility (1999)

Ivo J.P. Arnhold Ana Cláudia Latronico Marcelo C. Batista Berenice B. Mendonça

Micropenis

Nonsense mutation

10.1016/s0015-0282(98)00517-2

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Citations (43)

46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome

Advances in experimental medicine and biology (2011)

Ivo J.P. Arnhold Karla Melo Elaine Maria Frade Costa Débora Lucia Seguro Danilovic Marlene Inácio

Gynecomastia

Pubic hair

Androgen insensitivity syndrome

10.1007/978-1-4419-8002-1_14

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Absence of inactivating mutations in DAX1 gene in 46,XX males and 46,XX true hermaphrodites

Sorahia Domenice Rafaela Vieira Corrêa Elaine Maria Frade Costa Karla Melo Ivo J.P. Arnhold

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Long-Term Surgical Outcome of Masculinizing Genitoplasty in Large Cohort of Patients With Disorders of Sex Development

The Journal of Urology (2010)

Maria Helena Palma Sircili Frederico Arnaldo de Queiroz e Silva Elaine Maria Frade Costa Vinícius Nahime Brito Ivo J.P. Arnhold

We evaluated the results of masculinizing genitoplasty in a large cohort of patients with disorders of sex development treated at a single public tertiary center.We evaluated 52 patients with 46,XY and 7 with 46,XX disorders of sex development with proximal hypospadias and genital ambiguity reared as males who had undergone surgery between 1965 and 2008. Mean +/- SD followup was 14.1 +/- 9.2 years and median age at last examination was 22 years, with 38 patients having reached adulthood. Morphological result and urinary stream were evaluated by a physician. Urinary and sexual symptoms, and satisfaction with surgical results were assessed by questionnaire.Mean penile length at diagnosis was compared between 46,XY patients and showed that those with 5alpha-reductase 2 deficiency had the shortest penile length (-5.4 +/- 1.2 SD). At the last clinical evaluation following surgical and hormonal treatment mean +/- SD penile length in 38 adults was 7.5 +/- 2.1 cm (range 4 to 12), corresponding to -4.3 +/- 1.3 SD (-6.5 to -1.5). All but 2 patients had penile length less than -2 SD. At that time mean penile length remained shorter in patients with 5alpha-reductase 2 deficiency (-5.4 +/- 1 SD) compared to those with testosterone production deficiency or indeterminate disorders of sex development (p <0.05). There was no statistical difference between mean penile length before and after treatment in all etiological groups (p >0.05). Morphological results were good in 43% of patients, fair in 54% and poor in 3%. The most common complications were urethral fistula (51%) and urethral stenosis (22%). Dribbling after voiding was the most frequent urinary symptom. Satisfaction with surgical results was reported by 89% of patients. Among adults 87% were sexually active, with 64% reporting normal sexual activity.Most patients with 46,XY disorders of sex development were satisfied with long-term results of masculinizing genitoplasty, although specific complaints about small penile length, sexual activity and urinary symptoms were frequent. New surgical approaches should be developed to ensure full satisfaction in adulthood among patients with disorders of sex development.

10.1016/j.juro.2010.05.022

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Valor da dosagem de gonadotrofinas pelo metodo imunofluorométrico ultrassensível no diagnóstico do hipogonadismo hipogonadotrófico (HH)

Arquivos Brasileiros de Endocrinologia & Metabologia (2002)

Elisiany Mello Costa Ana Cláudia Latronico Ivo J.P. Arnhold Berenice B. Mendonça

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