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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

Proceedings of the National Academy of Sciences - PNAS, 2020-06, Vol.117 (24), p.13680-13688

2020

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Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty

Frontiers in endocrinology (Lausanne), 2020-02, Vol.11, p.72-72

2020

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Fertility Issues in Disorders of Sex Development

Endocrinology and metabolism clinics of North America, 2015-12, Vol.44 (4), p.867-881

2015

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Precocious puberty in relation to the COVID-19 pandemic. A survey among Argentine pediatric endocrinologists

Archivos argentinos de pediatría, 2023-06, Vol.121 (3), p.e202202767-e202202767

2023

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Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect

The journal of clinical endocrinology and metabolism, 2015-02, Vol.100 (2), p.E301-E307

2015

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Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

Journal of clinical research in pediatric endocrinology, 2019-03, Vol.11 (1), p.24-33

2019

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Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient

Hormone research in paediatrics, 2018-01, Vol.90 (4), p.275-282

2018

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Unique Dominant Negative Mutation in the N-Terminal Mitochondrial Targeting Sequence of StAR, Causing a Variant Form of Congenital Lipoid Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2013-01, Vol.98 (1), p.E153-E161

2013

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Effectiveness of rhGH treatment on final height of renal-transplant recipients in childhood

Pediatric nephrology (Berlin, West), 2012-06, Vol.27 (6), p.1005-1009

2012

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Hypothalamic-Pituitary-Ovarian Axis during Infancy, Early and Late Prepuberty in an Aromatase-Deficient Girl Who Is a Compound Heterocygote for Two New Point Mutations of the CYP19 Gene

The journal of clinical endocrinology and metabolism, 2003-11, Vol.88 (11), p.5127-5131

2003

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Role of minimally invasive surgery (MIS) in different sexual development (DSD)

Seminars in pediatric surgery, 2021-08, Vol.30 (4), p.151078-151078, Article 151078

2021

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Pediatric adrenocortical tumors cohort characteristics and long-term follow-up at a single Argentinian tertiary center

Journal of pediatric endocrinology & metabolism : JPEM, 2022-01, Vol.35 (1), p.19

2022

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Pubertad precoz relacionada con la pandemia por COVID-19. O Encuesta a endocrinólogos pediátricos argentinos

Archivos argentinos de pediatría, 2023-06, Vol.121 (3), p.6-6

2023

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Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment

Clinical endocrinology (Oxford), 2015-05, Vol.82 (5), p.704-711

2015

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THU157 Epigenetic Regulation Of Genes Involved In The Signaling Cascade Of The GH Axis - IGF1 And Insulin. Implication In Children Postnatal Growth

Journal of the Endocrine Society, 2023-10, Vol.7 (Supplement_1)

2023

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A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings

Sexual development, 2023-08, Vol.17 (1), p.1-7

2023

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Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2011-10, Vol.75 (4), p.427-435

2011

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Adrenarche: postnatal adrenal zonation and hormonal and metabolic regulation

Hormone research, 2008-01, Vol.70 (5), p.257-267

2008

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Relationship between the Growth Hormone/Insulin-Like Growth Factor-I Axis, Insulin Sensitivity, and Adrenal Androgens in Normal Prepubertal and Pubertal Girls

The journal of clinical endocrinology and metabolism, 2003-03, Vol.88 (3), p.1389-1393

2003

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Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

Journal of clinical research in pediatric endocrinology, 2018-09

2018

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Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

Hormone research in paediatrics, 2011-01, Vol.75 (1), p.70-77

2011

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Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone

Vitamins and hormones, 2018, Vol.108, p.75-123

2018

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Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

Hormone research in paediatrics, 2012-09, Vol.78 (2), p.119-126

2012

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SUN-212 Differences of Sex Development Patients: Characterization of Histological Findings and Immunohistochemistry Markers in 46,Xx Gonads During Early Childhood

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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Fertility issues in the management of patients with disorders of sex development

Endocrine development, 2014, Vol.27, p.87

2014

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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty

Fertility Issues in Disorders of Sex Development

Precocious puberty in relation to the COVID-19 pandemic. A survey among Argentine pediatric endocrinologists

Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient

Unique Dominant Negative Mutation in the N-Terminal Mitochondrial Targeting Sequence of StAR, Causing a Variant Form of Congenital Lipoid Adrenal Hyperplasia

Effectiveness of rhGH treatment on final height of renal-transplant recipients in childhood

Hypothalamic-Pituitary-Ovarian Axis during Infancy, Early and Late Prepuberty in an Aromatase-Deficient Girl Who Is a Compound Heterocygote for Two New Point Mutations of the CYP19 Gene

Role of minimally invasive surgery (MIS) in different sexual development (DSD)

Pediatric adrenocortical tumors cohort characteristics and long-term follow-up at a single Argentinian tertiary center

Pubertad precoz relacionada con la pandemia por COVID-19. O Encuesta a endocrinólogos pediátricos argentinos

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment

THU157 Epigenetic Regulation Of Genes Involved In The Signaling Cascade Of The GH Axis - IGF1 And Insulin. Implication In Children Postnatal Growth

A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia

Adrenarche: postnatal adrenal zonation and hormonal and metabolic regulation

Relationship between the Growth Hormone/Insulin-Like Growth Factor-I Axis, Insulin Sensitivity, and Adrenal Androgens in Normal Prepubertal and Pubertal Girls

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

SUN-212 Differences of Sex Development Patients: Characterization of Histological Findings and Immunohistochemistry Markers in 46,Xx Gonads During Early Childhood

Fertility issues in the management of patients with disorders of sex development

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