Literature DB >> 16459464

Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.

Eliana G Stuchi-Perez1, Christine Hackel, Luiz Eduardo C Oliveira, Lucio F C Ferraz, Laurione C Oliveira, Daniela Nunes-Silva, Maria Betania Toralles, Leandra Steinmetz, Durval Damiani, Andrea T Maciel-Guerra, Gil Guerra-Junior.   

Abstract

AIM: To evaluate anti-Müllerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5alpha-reductase 2 deficiency. PATIENTS AND METHODS: Data from 14 patients whose age ranged from 21 days to 29 years were analyzed according to age and pubertal stage. Sexual ambiguity was rated as Prader III in 11 patients. LH, FSH, testosterone (T), dihydrotestosterone (DHT) and AMH serum levels were measured in all but two patients, who had been previously submitted to gonadectomy; T and DHT were also measured in 20 age-matched controls.
RESULTS: Gonadotropin levels were normal in all but one patient who retained gonads (six of whom had reached puberty) and T/DHT ratio was elevated in all patients when compared to controls. All prepubertal patients had AMH levels < -1 SD for age, while most pubertal patients had AMH levels compatible with pubertal stage.
CONCLUSIONS: Prepubertal patients with 5alpha-reductase 2 deficiency have AMH values in the lower part of the normal range. These data indicate that T does not need to be converted to DHT to inhibit AMH secretion by Sertoli cells.

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Year:  2005        PMID: 16459464     DOI: 10.1515/jpem.2005.18.12.1383

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN: 0334-018X            Impact factor:   1.634


  6 in total

Review 1.  Anti-müllerian hormone: a valuable addition to the toolbox of the pediatric endocrinologist.

Authors:  Nathalie Josso; Rodolfo A Rey; Jean-Yves Picard
Journal:  Int J Endocrinol       Date:  2013-12-08       Impact factor: 3.257

2.  408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.

Authors:  Georgette Beatriz De Paula; Beatriz Amstalden Barros; Stela Carpini; Bruna Jordan Tincani; Tais Nitsch Mazzola; Mara Sanches Guaragna; Cristiane Santos da Cruz Piveta; Laurione Candido de Oliveira; Juliana Gabriel Ribeiro Andrade; Guilherme Guaragna-Filho; Pedro Perez Barbieri; Nathalia Montibeler Ferreira; Marcio Lopes Miranda; Ezequiel Moreira Gonçalves; Andre Moreno Morcillo; Nilma Lucia Viguetti-Campos; Sofia Helena Valente Lemos-Marini; Roberto Benedito de Paiva Silva; Antonia Paula Marques-de-Faria; Maricilda Palandi De Mello; Andrea Trevas Maciel-Guerra; Gil Guerra-Junior
Journal:  Int J Endocrinol       Date:  2016-11-28       Impact factor: 3.257

3.  Clinical Utility of Anti-Mullerian Hormone in Pediatrics.

Authors:  Roopa Kanakatti Shankar; Tazim Dowlut-McElroy; Andrew Dauber; Veronica Gomez-Lobo
Journal:  J Clin Endocrinol Metab       Date:  2022-01-18       Impact factor: 5.958

4.  Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients.

Authors:  Lavinia Vija; Sophie Ferlicot; Diana Paun; Hélène Bry-Gauillard; Gabriela Berdan; Issam Abd-Alsamad; Marc Lombès; Jacques Young
Journal:  BMC Endocr Disord       Date:  2014-05-23       Impact factor: 2.763

Review 5.  What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Authors:  Nathalie Josso; Rodolfo A Rey
Journal:  Front Endocrinol (Lausanne)       Date:  2020-09-08       Impact factor: 5.555

6.  Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development.

Authors:  Letícia Ribeiro Oliveira; Carlos Alberto Longui; Guilherme Guaragna-Filho; José Luiz Costa; Rafael Lanaro; David Antônio Silva; Maria Izabel Chiamolera; Maricilda Palandi de Mello; André Moreno Morcillo; Andrea Trevas Maciel-Guerra; Gil Guerra-Junior
Journal:  Endocr Connect       Date:  2020-11       Impact factor: 3.335

  6 in total

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