Precocious Puberty with Short Stature in a Girl: A Rare Case of Van Wyk–Grumbach Syndrome

Abstract Background: Precocious puberty (PP) is common in children and manifests commonly with increased linear growth. Van Wyk–Grumbach (VWG) syndrome is a rare cause of PP with short stature and delayed bone age. Clinical Description: An 11-year-old girl presented with early menarche, menorrhagia, and stunted height. Examination revealed pallor, dry skin, absence of axillary and pubic hair, and the presence of breast development (Tanner stage 3). A magnetic resonance imaging of the brain by a primary physician revealed a pituitary mass and was referred to neurosurgery, who, however, referred the child to us endocrinologists. Management and Outcome: Standard protocol-wise approach showed short stature with delayed bone age, high levels of thyroid-stimulating hormone, follicle-stimulating hormone and prolactin, raised antithyroid peroxidase antibodies along with multicystic ovaries bilaterally, thus cliniching the diagnosis of VWG Syndrome. The patient was started on levothyroxine and showed remission of symptoms and normalization of thyroid function tests as well as pituitary size. Conclusion: It is important to be aware that VWG syndrome may be a cause of PP in which the increase in size of the pituitary is reversible with initiation of thyroxine therapy along with complete resolution of all symptoms, avoiding unnecessary surgical interventions.

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Publication Details

Journal
Indian Pediatrics Case Reports
Published
2024-10-01
DOI
https://doi.org/10.4103/ipcares.ipcares_35_24
Primary Topic
Genetic Syndromes and Imprinting
Type
article
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article

Precocious Puberty with Short Stature in a Girl: A Rare Case of Van Wyk–Grumbach Syndrome

Mansi Jain, Pragya Mangla, Lavina Patnaik, Nishant Raizada
Indian Pediatrics Case Reports
Genetic Syndromes and Imprinting
article

Precocious Puberty with Short Stature in a Girl: A Rare Case of Van Wyk–Grumbach Syndrome

Mansi Jain, Pragya Mangla, Lavina Patnaik, Nishant Raizada
article en

Abstract

Abstract Background: Precocious puberty (PP) is common in children and manifests commonly with increased linear growth. Van Wyk–Grumbach (VWG) syndrome is a rare cause of PP with short stature and delayed bone age. Clinical Description: An 11-year-old girl presented with early menarche, menorrhagia, and stunted height. Examination revealed pallor, dry skin, absence of axillary and pubic hair, and the presence of breast development (Tanner stage 3). A magnetic resonance imaging of the brain by a primary physician revealed a pituitary mass and was referred to neurosurgery, who, however, referred the child to us endocrinologists. Management and Outcome: Standard protocol-wise approach showed short stature with delayed bone age, high levels of thyroid-stimulating hormone, follicle-stimulating hormone and prolactin, raised antithyroid peroxidase antibodies along with multicystic ovaries bilaterally, thus cliniching the diagnosis of VWG Syndrome. The patient was started on levothyroxine and showed remission of symptoms and normalization of thyroid function tests as well as pituitary size. Conclusion: It is important to be aware that VWG syndrome may be a cause of PP in which the increase in size of the pituitary is reversible with initiation of thyroxine therapy along with complete resolution of all symptoms, avoiding unnecessary surgical interventions.

Indian Pediatrics Case ReportsVol. 4(4)
University College of Medical Sciences (IN), Guru Teg Bahadur Hospital (IN)
Zero hunger
Openalex Percentile: Top 77%
Genetic Syndromes and Imprinting
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