Abstract | OBJECTIVES: CASE PRESENTATION: An 11-month-old male patient was found to have premature pubarche, enlargement of the penis, and frequent erection. LH and FSH levels after the GnRHa test were in the pubertal range. Direct sequencing revealed a heterozygous variant of the NR0B1 gene. The proband was treated with hydrocortisone and 9-alpha fludrocortisone because of the significantly elevated ACTH and renin activity. The secondary sexual characteristics relieved gradually. The serum testosterone and LH subsequently returned to the prepubertal range. The basal serum FSH values have been between 1.0 and 2.0 IU/L since the age of 2.25 years, with extremely low AMH levels beginning at 3 years. CONCLUSIONS: The clinical course of CPP with NR0B1 variant may be temporary. HPG axis status of X-linked AHC may probably be pleomorphic during the longitudinal follow-up.
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Authors | Jun Zhang, Qiuli Chen, Song Guo, Yanhong Li, Huamei Ma, Rujiang Zheng, Minlian Du |
Journal | Journal of pediatric endocrinology & metabolism : JPEM
(J Pediatr Endocrinol Metab)
Vol. 35
Issue 7
Pg. 962-967
(Jul 26 2022)
ISSN: 2191-0251 [Electronic] Germany |
PMID | 35417110
(Publication Type: Case Reports)
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Copyright | © 2022 Walter de Gruyter GmbH, Berlin/Boston. |
Chemical References |
- DAX-1 Orphan Nuclear Receptor
- NR0B1 protein, human
- Follicle Stimulating Hormone
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Topics |
- Adrenal Insufficiency
(genetics)
- Child, Preschool
- DAX-1 Orphan Nuclear Receptor
(genetics)
- Follicle Stimulating Hormone
- Follow-Up Studies
- Humans
- Hypoadrenocorticism, Familial
(genetics)
- Infant
- Male
- Mutation
- Puberty, Precocious
(drug therapy, genetics)
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