Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female
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Amani Osman
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Sherif El-Refee
Abstract
Objectives
To present the clinical journey and management of a 15-year-old female with SHORT syndrome, highlighting the diagnostic challenges and the novel genetic mutation identified.
Case presentation
A 15-year-old Filipino female was initially seen in a dermatology clinic at 9 years old for axillary skin darkening, indicative of acanthosis nigricans. Early evaluations revealed elevated blood glucose levels, resulting in a pediatric diabetes diagnosis without the usual hyperglycemic symptoms. Her medical history was notable for premature birth, intrauterine growth restriction, a cardiac murmur from patent ductus arteriosus and a bicuspid aortic valve, delayed teething, and distinct dysmorphic features. Genetic testing identified a novel PIK3R1 gene mutation. Treatment with metformin significantly improved her glycemic control and lipid profiles. The patient also displayed delayed puberty and polycystic ovary syndrome-like symptoms, but growth hormone deficiency was excluded. Endocrine evaluation for her short stature and lipodystrophy confirmed the presence of the PIK3R1 mutation.
Conclusions
This case highlights the importance of thorough endocrine and genetic evaluations in patients with complex clinical presentations like SHORT syndrome. The identification of a novel PIK3R1 gene mutation expands the understanding of the genetic basis of this syndrome and underscores the need for individualized treatment approaches.
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Research ethics: The local Institutional Review Board deemed the study exempt from review.
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Informed consent: Informed consent was obtained from all individuals included in this study. Informed consent available upon request.
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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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Use of Large Language Models, AI and Machine Learning Tools: Not applicable.
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Competing interests: Authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
References
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Articles in the same Issue
- Frontmatter
- Review
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- Original Articles
- Do hybrid closed loop insulin pump systems improve glycemic control and reduce hospitalizations in poorly controlled type 1 diabetes?
- Long-term effectiveness and safety of long-acting growth hormone preparation in children with growth hormone deficiency
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- Hsa_circ_0002473 inhibits GH3 cell proliferation and GH secretion as a competitive endogenous RNA for has-miR-4645-3p
- Through the eyes of the parents: a transdiagnostic psychiatric perspective for children with differences of sexual development
- Experiences and psychological issues affecting parents of children born with atypical genitalia in India
- Case Reports
- A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita
- Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report
- Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female
- Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency
- A rare case of skeletal dysplasia: biallelic variant in ACAN gene
- Letter to the Editor
- Another look at the necessity of polysomnography for infants with Prader-Willi syndrome prior to initiation of growth hormone therapy
- Annual Reviewer Acknowledgment
- Reviewer Acknowledgment
Articles in the same Issue
- Frontmatter
- Review
- Effect and safety of aromatase inhibitors for the treatment of short stature in male children and adolescents: a meta-analysis of randomized controlled trials
- Original Articles
- Do hybrid closed loop insulin pump systems improve glycemic control and reduce hospitalizations in poorly controlled type 1 diabetes?
- Long-term effectiveness and safety of long-acting growth hormone preparation in children with growth hormone deficiency
- Gonadal changes in children and adolescents with congenital adrenal hyperplasia
- Hsa_circ_0002473 inhibits GH3 cell proliferation and GH secretion as a competitive endogenous RNA for has-miR-4645-3p
- Through the eyes of the parents: a transdiagnostic psychiatric perspective for children with differences of sexual development
- Experiences and psychological issues affecting parents of children born with atypical genitalia in India
- Case Reports
- A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita
- Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report
- Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female
- Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency
- A rare case of skeletal dysplasia: biallelic variant in ACAN gene
- Letter to the Editor
- Another look at the necessity of polysomnography for infants with Prader-Willi syndrome prior to initiation of growth hormone therapy
- Annual Reviewer Acknowledgment
- Reviewer Acknowledgment
