Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are avail...
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doaj-83136e7739774b14be9259381f100bcf2020-11-24T21:49:17ZengBioscientificaEndocrine Connections2049-36142049-36142018-03-017339540210.1530/EC-17-0306Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficitBruno Donadille0Muriel Houang1Irène Netchine2Jean-Pierre Siffroi3Sophie Christin-Maitre4Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, FranceService d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, FranceService d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France; Université Pierre et Marie Curie, Sorbonne Université, Paris, France; INSERM UMR_S933, Paris, FranceService d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France; Université Pierre et Marie Curie, Sorbonne Université, Paris, France; INSERM UMR_S933, Paris, FranceHuman 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available concerning adult testicular function in such patients. We had the opportunity to study gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. He presented at birth a neonatal salt-wasting syndrome. He had a micropenis, a perineal hypospadias and two intrascrotal testes. HSD3B2 gene sequencing revealed a 687del27 homozygous mutation. The patient achieved normal puberty at the age of 15 years. Transition from the paediatric department occurred at the age of 19 years. His hormonal profile under hydrocortisone and fludrocortisone treatments revealed normal serum levels of 17OH-pregnenolone, as well as SDHEA, ACTH, total testosterone, inhibin B and AMH. Pelvic ultrasound identified two scrotal testes of 21 mL each, without any testicular adrenal rest tumours. His adult spermatic characteristics were normal, according to WHO 2010 criteria, with a sperm concentration of 57.6 million/mL (N > 15), 21% of typical forms (N > 4%). Sperm vitality was subnormal (41%; N > 58%). This patient, in contrast to previous reports, presents subnormal sperm parameters and therefore potential male fertility in a 24-years-old patient with severe 3b-HSD deficiency. This case should improve counselling about fertility of male patients carrying HSD3B2 mutation.http://www.endocrineconnections.com/content/7/3/395.full.pdf+htmlrare diseasespaediatric endocrinologysteroidogenesispuberty |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Bruno Donadille Muriel Houang Irène Netchine Jean-Pierre Siffroi Sophie Christin-Maitre |
spellingShingle |
Bruno Donadille Muriel Houang Irène Netchine Jean-Pierre Siffroi Sophie Christin-Maitre Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit Endocrine Connections rare diseases paediatric endocrinology steroidogenesis puberty |
author_facet |
Bruno Donadille Muriel Houang Irène Netchine Jean-Pierre Siffroi Sophie Christin-Maitre |
author_sort |
Bruno Donadille |
title |
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit |
title_short |
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit |
title_full |
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit |
title_fullStr |
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit |
title_full_unstemmed |
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit |
title_sort |
human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit |
publisher |
Bioscientifica |
series |
Endocrine Connections |
issn |
2049-3614 2049-3614 |
publishDate |
2018-03-01 |
description |
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available concerning adult testicular function in such patients. We had the opportunity to study gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. He presented at birth a neonatal salt-wasting syndrome. He had a micropenis, a perineal hypospadias and two intrascrotal testes. HSD3B2 gene sequencing revealed a 687del27 homozygous mutation. The patient achieved normal puberty at the age of 15 years. Transition from the paediatric department occurred at the age of 19 years. His hormonal profile under hydrocortisone and fludrocortisone treatments revealed normal serum levels of 17OH-pregnenolone, as well as SDHEA, ACTH, total testosterone, inhibin B and AMH. Pelvic ultrasound identified two scrotal testes of 21 mL each, without any testicular adrenal rest tumours. His adult spermatic characteristics were normal, according to WHO 2010 criteria, with a sperm concentration of 57.6 million/mL (N > 15), 21% of typical forms (N > 4%). Sperm vitality was subnormal (41%; N > 58%). This patient, in contrast to previous reports, presents subnormal sperm parameters and therefore potential male fertility in a 24-years-old patient with severe 3b-HSD deficiency. This case should improve counselling about fertility of male patients carrying HSD3B2 mutation. |
topic |
rare diseases paediatric endocrinology steroidogenesis puberty |
url |
http://www.endocrineconnections.com/content/7/3/395.full.pdf+html |
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