Publications by authors named "J D McNeilly"
Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy.
J Clin Res Pediatr Endocrinol
December 2024
Objective: Delayed puberty is thought to be common in boys with Duchenne muscular dystrophy (DMD) treated with long term oral glucocorticoid. The aim of this study was to report the frequency of delayed puberty in DMD from examination by a paediatric endocrinologist alongside detailed endocrine investigations.
Methods: All boys with DMD aged at least 14 years in January 2022 known to the paediatric neuromuscular service (2016-2022) were included.
Article Synopsis
- Latent fibrin clots can lead to inaccurate immunoassay results, impacting thyroid function tests (TFTs), especially in patients with congenital dysfibrinogenemia (CD).
- A case study highlights that plasma samples from a patient with Graves' disease and CD provided more accurate TFT results than serum samples, which were unreliable.
- This report emphasizes the need to recognize CD as a potential cause of discordant TFT results to avoid unnecessary medical interventions and to help identify undiagnosed cases.
Background: In cases of fractures in children with suspicion of non-accidental injury (NAI), biochemical markers of calcium homeostasis should be performed.
Objectives: To describe the pattern of biochemistry in children with fractures NAI is suspected.
Participants And Setting: Children ≤2 years of age who had undergone a skeletal survey as part of a child protection investigation where 1/+ fracture was identified over a ten-year period (2012-2021) at the Royal Hospital for Children, Glasgow.
Background: Bilateral undescended testes (BUDT) may be a marker of an underlying condition that affects sex development or maturation.
Aims: To describe the extent of gonadal dysfunction in cases of BUDT who had systematic endocrine and genetic evaluation at a single tertiary pediatric center.
Methods: A retrospective review was conducted of all boys with BUDT who had endocrine evaluation between 2008 and 2021 at the Royal Hospital for Children, Glasgow (RHCG).
Article Synopsis
- Boys with hypospadias show abnormal artery responses, like hypercontractility and decreased ability to relax, and the influence of sex hormones on these issues is not fully understood.
- The study aimed to investigate how sex steroids affect blood vessel behavior in healthy boys versus those with hypospadias using artery samples from surgeries.
- Results indicated that in healthy boys, sex hormones cause increased vasoconstriction, whereas in boys with hypospadias, these hormones actually reduce vasoconstriction and assist in vasorelaxation, suggesting hormone effects may vary based on existing vascular conditions.*