Maimonides Infants and Childrens Hospital and Childrens Hospital at SUNY Downstate

Brooklyn, NY, United States

Maimonides Infants and Childrens Hospital and Childrens Hospital at SUNY Downstate

Brooklyn, NY, United States

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George M.M.,Maimonides Infants and Childrens Hospital and Childrens Hospital at SUNY Downstate | Sinha S.,Maimonides Infants and Childrens Hospital and Childrens Hospital at SUNY Downstate | Mamkin I.,Maimonides Infants and Childrens Hospital and Childrens Hospital at SUNY Downstate | Philibert P.,Montpellier University | And 5 more authors.
Gynecological Endocrinology | Year: 2011

Aims.17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) is expressed exclusively in the testes where it converts Δ4 androstenedione (Δ4) to testosterone (T). Here, we report a patient with a rare mutation at a critical site in HSD17B3 gene leading to deficiency of 17β HSD-3 enzyme. Methods.We describe a 3-year old healthy female of consanguineous Lebanese descent, who presented to the endocrine service with isolated mild clitoromegaly. Adrenocorticotropic hormone (ACTH) and human chorionic gonadotrophin (hCG) stimulation tests were performed. Genes for sex-determining region Y (SRY), steroidogenic factor-1 (SF-1) and 17βHSD-3 (HSD17B3) were sequenced. Results.The post-hCG stimulation T levels and T/Δ4 ratio was low. Patient had a 46,XY karyotype. Sequence analysis of the HSD17B3 gene revealed a homozygous R80W missense mutation on exon 3. No mutation was found in SRY and SF1 genes. Mullerian structures were not detected on pelvic imaging. Conclusions.A low T/Δ4 ratio is indicative of 17βHSD-3 deficiency and associated with isolated clitoromegaly. The R80 site is critical for NADPH binding, thus the mutation at this site leads to 17βHSD-3 deficiency presenting as 46,XY disorder of sex development. © 2010 Informa UK, Ltd.


PubMed | Maimonides Infants and Childrens Hospital and Childrens Hospital at SUNY Downstate
Type: Case Reports | Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology | Year: 2011

17--Hydroxysteroid dehydrogenase type 3 (17HSD-3) is expressed exclusively in the testes where it converts 4 androstenedione (4) to testosterone (T). Here, we report a patient with a rare mutation at a critical site in HSD17B3 gene leading to deficiency of 17 HSD-3 enzyme.We describe a 3-year old healthy female of consanguineous Lebanese descent, who presented to the endocrine service with isolated mild clitoromegaly. Adrenocorticotropic hormone (ACTH) and human chorionic gonadotrophin (hCG) stimulation tests were performed. Genes for sex-determining region Y (SRY), steroidogenic factor-1 (SF-1) and 17HSD-3 (HSD17B3) were sequenced.The post-hCG stimulation T levels and T/4 ratio was low. Patient had a 46,XY karyotype. Sequence analysis of the HSD17B3 gene revealed a homozygous R80W missense mutation on exon 3. No mutation was found in SRY and SF1 genes. Mullerian structures were not detected on pelvic imaging.A low T/4 ratio is indicative of 17HSD-3 deficiency and associated with isolated clitoromegaly. The R80 site is critical for NADPH binding, thus the mutation at this site leads to 17HSD-3 deficiency presenting as 46,XY disorder of sex development.

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