ESPE Abstracts (2019) 92 P1-234

Identification of Syndromal Macrosomia: Macrocephaly, but Neither Height Nor Weight Data are Useful in the Detection of Pediatric PTEN Hamartoma Tumor Syndrome (PHTS)

Michaela Plamper, Bettina Gohlke, Felix Schreiner, Joachim Wölfle


Pediatric Endocrinology and Diabetology Divison, Children's Hospital, University of Bonn, Bonn, Germany


Background: PTEN Hamartoma Tumor Syndrome (PHTS) encompasses different syndromic disorders which are associated with autosomal-dominant mutations of the tumor suppressor gene PTEN. Patients are at high risk to develop benign and malignant tumors. Macrocephaly is a diagnostic feature, but there is a paucity of data on prevalence, degree und development during growth. Charts for length, weight and head circumference for this rare disorder do not yet exist.

Methods: Patient data for length, weight and head circumferences (HC) were collected from repeated medical exams starting at birth. Growth charts were generated and compared to German reference data. Standard deviation scores (SDS) of head circumference and BMI were calculated.

Results: We included 23 patients (8 female, 15 male) with molecular proven PTEN mutation. Most male patients showed macrocephaly already at birth (11/15), whereas only one female patient had documented congenital macrocephaly. At the age of two years all patients exhibited a head circumference > 97th percentile. Stratified for different ages median HC-SDS of male patients were between +3.3 and +5.5 (mean 4.2 SDS) and for female patients between +2.7 and +4.1 (mean 3.2 SDS). Length, weight and BMI charts for both sexes were mostly within the normal range.

Conclusion: Macrocephaly, but not length, weight or BMI help to identify PTEN patients. The increase in HC in PHTS patients is developing early in life and is more pronounced in males than in females. This might explain why more male patients are detected during childhood.

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