A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita

Aikaterini Mastoropoulou; Andrew H. Lane

doi:10.1515/jpem-2024-0321

Article

A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita

Aikaterini Mastoropoulou and Andrew H. Lane

Published/Copyright: October 30, 2024

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 12

Abstract

Objectives

We describe a male with adrenal hypoplasia congenita (AHC) caused by a novel mutation in NR0B1, who was noted at 9 months of age to have central precocious puberty (CPP).

Case presentation

A 3-week-old full-term male presented with hypothermia and lethargy, and a 0.3 kg weight loss since birth. Labs were consistent with adrenal crisis, he was stabilized with stress dose hydrocortisone (HC), insulin, and antibiotics, and he was admitted to the Pediatric Intensive Care Unit. Subsequent labs revealed primary adrenal insufficiency with abdominal ultrasound remarkable for nonvisualization of the adrenal glands. Genetic testing identified a novel pathogenic c.707G>A [p.Trp236ter] nonsense variant in the DNA-binding domain of NR0B1 (DAX-1) confirming AHC. The patient was discharged with HC, fludrocortisone, and sodium supplementation with good tolerance and interval weight gain and normal electrolytes. At 9 months of age, the patient developed signs of precocious puberty, which failed to self-resolve or diminish with increased dosing of HC, and by the age of 15 months, he was treated with leuprolide acetate.

Conclusions

Historically, hypogonadotropic hypogonadism has been observed in 76 % of adolescent patients with AHC who have alterations in NR0B1. CPP has been infrequently described in AHC, and the natural history and management of CPP in this setting is not established. Our observations may contribute to the understanding of factors influencing normal and abnormal puberty in infants. Increased awareness of the possibility of CPP in AHC will aid clinicians in the earlier clinical and laboratory detection of this complication.

Keywords: adrenal hypoplasia congenita; central precocious puberty; NR0B1 ; GnRH agonist

Corresponding author: Aikaterini Mastoropoulou, MD, Department of Pediatrics, Stony Brook Children’s Hospital, 101 Nicolls Rd, 11794, Stony Brook, NY, USA, E-mail: Aikaterini.Mastoropoulou@stonybrookmedicine.edu

Research ethics: The local Institutional Review Board deemed the study exempt from review.
Informed consent: Informed consent was obtained from all individuals included in this study.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interests: Authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2024-07-04

Accepted: 2024-10-13

Published Online: 2024-10-30

Published in Print: 2024-12-17

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0321

Keywords for this article

adrenal hypoplasia congenita; central precocious puberty; NR0B1; GnRH agonist