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Endocrine Abstracts (2016) 41 GP188 | DOI: 10.1530/endoabs.41.GP188

ECE2016 Guided Posters Reproduction & Endocrine Disruption (10 abstracts)

Human 3β-hydroxysteroid dehydrogenase deficiency associated with a normal spermatic numeration despite a severe enzyme deficit, after an accomplished transition period

Bruno Donadille 1 , Sylvie Cabrol 2 , Muriel Houang 2 , Yves Lebouc 2 , Yves Morel 3 , Irene Netchine 2 & Sophie Christin-Maitre 1


1Service d’endocrinologie et médecine de la reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hopital Saint Antoine, Groupe Hospitalier Universitaire Est, Assistance Pub, Paris, France; 2Service d’explorations fonctionnelles endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hopital Armand Trousseau, Groupe Hospitalier Universitaire Est, Assistance Pub, Paris, France; 3Hôpital Debrousse, Laboratoire de Biologie Moléculaire, Lyon, France.


Human 3β-hydroxysteroid dehydrogenase deficiency is a rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations, leading to steroidogenesis impairment in both adrenals and gonads. The transition period is important for a successful adult fertility, but information about fertility is lacking in this rare disease.

The patient presented with salt wasting at birth in Trousseau Hospital. Consanguinity was present, since the parents were first cousins. A micropenis and two intrascrotal testes were noted, a perineal hypospadias was later surgically corrected. Highly elevated 17OH-Pregnenolone contrasting with low 17OH-Progesterone and an HSD3B2 687del27 homozygous mutation (Moisan et al; JCEM 1999) were described: in vitro activity of this mutation in terms of DHEA/D4-Dione conversion was very low. Despite high ACTH levels in infancy, SDHEA levels remains controlled, without dexamethasone treatment use. Normal puberty was achieved at age 15. After transition from the pediatric department at age 19, the compliance was good and his hormonal profile remains normal with Hydrocortisone 30 mg/day and Fludrocortisone 100 μg/day: 17OHPregnenolone 2.2 nM (N: 1.5–10.8); SDHA 2.6 μM (N: 3–14); total testosterone 28 nM (N: 11–40); ACTH 21 pg/ml; renin 18.1 pg/ml (N: 5–30). Testicular echography found two scrotal testes of 21 ml without any evidence of testicular adrenal rest tumors. No malignancy was noted, as the testes remains in the scrotal position. Plasma inhibin B (139 pg/ml; N: 135–350) confirmed a normal Sertoli’s function. Finally, his spermatic numeration was quite normal according to WHO 2010 criteria, with 57.6 million/ml spermatozoids, although typical forms were 21% and vitality was 41% (N>58%), which allowed sperm cryopreservation.

This case illustrates potential male fertility in a patient with severe HSD3B2 deficiency and the importance of transition, which allowed a long term hormonal control and therefore exocrine consequences, questioning the testicular role of the peripheral, non-mutated, testicular HSD3B1.

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