Precocious Puberty in Boys with <em>NR0B1</em> Variants
Precocious puberty (PP) requires appropriate management to prevent short adult height, psychosocial issues, and other adverse outcomes. Genetic diagnosis potentially improves the management of PP. Pathogenic <i>NR0B1</i> variants, which typically cause X-linked adrenal hypoplasia congeni...
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MDPI AG
2024-11-01
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| author | Atsushi Hattori Maki Fukami |
| author_facet | Atsushi Hattori Maki Fukami |
| author_sort | Atsushi Hattori |
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| description | Precocious puberty (PP) requires appropriate management to prevent short adult height, psychosocial issues, and other adverse outcomes. Genetic diagnosis potentially improves the management of PP. Pathogenic <i>NR0B1</i> variants, which typically cause X-linked adrenal hypoplasia congenita, can also affect gonadal function. While boys with <i>NR0B1</i> variants usually exhibit hypogonadotropic hypogonadism during adolescence, previous reports have suggested that minipuberty, a physiological transient activation of the hypothalamic–pituitary–gonadal axis during infancy, occurs in these patients and can persist beyond a typical duration. In rare cases, <i>NR0B1</i> variants cause PP. PP associated with <i>NR0B1</i> variants has unique features such as early onset and high serum testosterone levels that are often disproportionate to testicular size. Three underlying mechanisms have been proposed for the association between PP and <i>NR0B1</i> variants: (1) adrenocorticotropic hormone (ACTH)-dependent, (2) gonadotropin-dependent, and (3) ACTH- and gonadotropin-independent mechanisms. The factors contributing to PP vary among cases. Determining the underlying mechanisms is crucial for adopting appropriate therapeutic strategies to control PP. However, as the detailed molecular networks mediating these mechanisms are largely unclear, further research is needed to pave the way for a more effective and personalized management of patients with PP associated with <i>NR0B1</i> variants. |
| format | Article |
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| institution | Kabale University |
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| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
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| series | Endocrines |
| spelling | doaj-art-b2400be3bdf544ff9a313be76c8e2f572024-12-27T14:23:05ZengMDPI AGEndocrines2673-396X2024-11-015452953710.3390/endocrines5040038Precocious Puberty in Boys with <em>NR0B1</em> VariantsAtsushi Hattori0Maki Fukami1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, JapanDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, JapanPrecocious puberty (PP) requires appropriate management to prevent short adult height, psychosocial issues, and other adverse outcomes. Genetic diagnosis potentially improves the management of PP. Pathogenic <i>NR0B1</i> variants, which typically cause X-linked adrenal hypoplasia congenita, can also affect gonadal function. While boys with <i>NR0B1</i> variants usually exhibit hypogonadotropic hypogonadism during adolescence, previous reports have suggested that minipuberty, a physiological transient activation of the hypothalamic–pituitary–gonadal axis during infancy, occurs in these patients and can persist beyond a typical duration. In rare cases, <i>NR0B1</i> variants cause PP. PP associated with <i>NR0B1</i> variants has unique features such as early onset and high serum testosterone levels that are often disproportionate to testicular size. Three underlying mechanisms have been proposed for the association between PP and <i>NR0B1</i> variants: (1) adrenocorticotropic hormone (ACTH)-dependent, (2) gonadotropin-dependent, and (3) ACTH- and gonadotropin-independent mechanisms. The factors contributing to PP vary among cases. Determining the underlying mechanisms is crucial for adopting appropriate therapeutic strategies to control PP. However, as the detailed molecular networks mediating these mechanisms are largely unclear, further research is needed to pave the way for a more effective and personalized management of patients with PP associated with <i>NR0B1</i> variants.https://www.mdpi.com/2673-396X/5/4/38DAX1<i>NR0B1</i>precocious pubertyLeydig cell |
| spellingShingle | Atsushi Hattori Maki Fukami Precocious Puberty in Boys with <em>NR0B1</em> Variants Endocrines DAX1 <i>NR0B1</i> precocious puberty Leydig cell |
| title | Precocious Puberty in Boys with <em>NR0B1</em> Variants |
| title_full | Precocious Puberty in Boys with <em>NR0B1</em> Variants |
| title_fullStr | Precocious Puberty in Boys with <em>NR0B1</em> Variants |
| title_full_unstemmed | Precocious Puberty in Boys with <em>NR0B1</em> Variants |
| title_short | Precocious Puberty in Boys with <em>NR0B1</em> Variants |
| title_sort | precocious puberty in boys with em nr0b1 em variants |
| topic | DAX1 <i>NR0B1</i> precocious puberty Leydig cell |
| url | https://www.mdpi.com/2673-396X/5/4/38 |
| work_keys_str_mv | AT atsushihattori precociouspubertyinboyswithemnr0b1emvariants AT makifukami precociouspubertyinboyswithemnr0b1emvariants |