Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency
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Benedikte von Spreckelsen
Abstract
Objectives
17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency results in insufficient biosynthesis of testosterone and consequently dihydrotestosterone. This is important for the fetal development of male genitalia. Thus, most 46,XY patients with 17β-HSD3 deficiency have a female appearance at birth and present with virilization at puberty. This study presents the differences in the clinical and hormonal data and analyses of gonadal characteristics in two siblings with 17β-HSD3 deficiency.
Case presentation
Patient 1 presented with deepening of the voice and signs of virilization at puberty and increased serum levels of testosterone (T) of 10.9 nmol/L (2.9 SDS) and androstenedione (Δ4) of 27 nmol/L (3.3 SDS) were observed. The T/Δ4-ratio was 0.39. Patient 2 was clinically prepubertal at the time of diagnosis, but she also had increased levels of T at 1.97 nmol/L (2.9 SDS), Δ4 at 5 nmol/L (3.3 SDS), and the T/Δ4-ratio was 0.40, but without signs of virilization. Both siblings were diagnosed as homozygous for the splice-site mutation c.277+4A>T in intron 3 of HSD17B3. They were subsequently gonadectomized and treated with hormone replacement therapy. The gonadal histology was overall in accordance with pubertal status, although with a dysgenetic pattern in both patients, including Sertoli-cell-only tubules, few tubules containing germ cells, and presence of microliths.
Conclusions
Two siblings with 17β-HSD3 deficiency differed in pubertal development at the time of diagnosis and showed marked differences in their clinical presentation, hormonal profile, gonadal morphology and expression of cell lineage markers. Early diagnosis of 17β-HSD3 deficiency appears beneficial to ameliorate long-term consequences.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from the two individuals included in this study and their parents.
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Ethical approval: Not applicable.
References
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© 2022 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- The effects of topical iodine containing antiseptics on thyroidal status and early neurodevelopment of preterm infants
- Effect of COVID-19 pandemic on presentation and referral patterns of newly diagnosed children with type 1 diabetes in a developing country
- Influence of the SARS-CoV-2 pandemic on paediatric patients with type 1 diabetes mellitus after one year of follow-up
- Combined diagnostic value of insulin-like growth factor-1, insulin-like growth factor binding protein-3, and baseline luteinizing hormone levels for central precocious puberty in girls
- Differences in the proportion of Croatian adolescents with abnormal individual metabolic syndrome components adjusted to gender and different criterion for individual metabolic syndrome component
- Low HDL-C is a non-fasting marker of insulin resistance in children
- Impact of COVID-19 lockdown on idiopathic central precocious puberty – experience from an Indian centre
- The relationship between metabolic syndrome and bone mineral density in adolescents: analysis of the National Health and Nutrition Examination Survey
- Long-term follow-up of alkaptonuria patients: single center experience
- Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia
- Urinary phthalate concentrations are associated with total fat mass in Thai children
- Clinical profile and aetiologies of delayed puberty: a 15 years’ experience from a tertiary centre in Sudan
- Case Reports
- Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution
- Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency
- Pleomorphism of the HPG axis with NR0B1 gene mutation — a case report of longitudinal follow-up of a proband with central precocious puberty
- Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4
Artikel in diesem Heft
- Frontmatter
- Original Articles
- The effects of topical iodine containing antiseptics on thyroidal status and early neurodevelopment of preterm infants
- Effect of COVID-19 pandemic on presentation and referral patterns of newly diagnosed children with type 1 diabetes in a developing country
- Influence of the SARS-CoV-2 pandemic on paediatric patients with type 1 diabetes mellitus after one year of follow-up
- Combined diagnostic value of insulin-like growth factor-1, insulin-like growth factor binding protein-3, and baseline luteinizing hormone levels for central precocious puberty in girls
- Differences in the proportion of Croatian adolescents with abnormal individual metabolic syndrome components adjusted to gender and different criterion for individual metabolic syndrome component
- Low HDL-C is a non-fasting marker of insulin resistance in children
- Impact of COVID-19 lockdown on idiopathic central precocious puberty – experience from an Indian centre
- The relationship between metabolic syndrome and bone mineral density in adolescents: analysis of the National Health and Nutrition Examination Survey
- Long-term follow-up of alkaptonuria patients: single center experience
- Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia
- Urinary phthalate concentrations are associated with total fat mass in Thai children
- Clinical profile and aetiologies of delayed puberty: a 15 years’ experience from a tertiary centre in Sudan
- Case Reports
- Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution
- Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency
- Pleomorphism of the HPG axis with NR0B1 gene mutation — a case report of longitudinal follow-up of a proband with central precocious puberty
- Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4
