Idiopathic gonadotropin-independent precocious puberty – is regular surveillance required?
-
Ved Bhushan Arya
and
Justin H. Davies
Abstract
Context
Germ cell tumours (GCTs) secreting β-human chorionic gonadotropin (β-HCG) are a rare cause of gonadotropin-independent precocious puberty (GIPP).
Case description
A 5.7-year-old boy presented with GIPP. Investigations to elucidate the underlying cause revealed elevated serum β-HCG. Ultrasound of the abdomen and testes, urine steroid profile, bone isotope scan, and sequencing of the luteinizing hormone receptor gene (LHCGR) were normal. Despite paired serum and cerebrospinal fluid β-HCG measurement suggesting local (brain) β-HCG production, repeated magnetic resonance imaging (MRI) of the brain as well as MRI of the mediastinum did not identify a tumour source of persistently elevated serum β-HCG. Treatment with cyproterone acetate and spironolactone was unsuccessful. Increase in testicular volumes prompted the addition of a gonadotropin releasing hormone (GnRH) analogue. Due to progressing virilisation and skeletal maturation, treatment was changed to a combination of anastrozole and bicalutamide at the age of 7 years. One year later, serum β-HCG and testosterone concentrations spontaneously normalised followed by reductions in the height velocity, skeletal maturation and virilisation. The proband achieved his genetic height potential. No medication side effects were observed. The patient subsequently presented with non-secreting pineal GCT at 14 years, 8½ years after his initial presentation with GIPP.
Conclusions
Our case highlights that GIPP with no definite underlying aetiology at diagnosis should be considered as a prodrome for GCTs, and regular radiological surveillance for earlier tumour identification is warranted. To the best of our knowledge, our case is the first reported case of the use of anastrozole and bicalutamide in the setting of idiopathic GIPP. The good height outcome in our case warrants the trial of anastrozole and bicalutamide in similar cases.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. VBA collected the data and wrote the manuscript. JHD critically appraised the manuscript and conceptualised the idea of manuscript. JHD is guarantor of this work.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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Articles in the same Issue
- Frontmatter
- Review
- The importance of anthropological methods in the diagnosis of rare diseases
- Original Articles
- PON1 arylesterase activity, HDL functionality and their correlation in malnourished children
- Prevalence of dyslipidemia and factors affecting dyslipidemia in young adults with type 1 diabetes: evaluation of statin prescribing
- Myocardial dysfunction in relation to serum thiamine levels in children with diabetic ketoacidosis
- Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience
- Endocrine consequences of neuroblastoma treatment in children: 20 years’ experience of a single center
- Analysis of diabetes-associated autoantibodies in children and adolescents with autoimmune thyroid diseases
- Adrenal function of extremely premature infants in the first 5 days after birth
- Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes
- The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
- Comparing the validity of continuous metabolic syndrome risk scores for predicting pediatric metabolic syndrome: the CASPIAN-V study
- Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience
- Short Communication
- Classical galactosemia patients can achieve high IQ scores
- Case Reports
- Idiopathic gonadotropin-independent precocious puberty – is regular surveillance required?
- MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature
- A case report and literature review of monoallelic mutation of GHR
- Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata’s disease) in a hypoglycemic child: a case report and review of the literature
