Akademik Veri Yönetim Sistemi
TURKISH ARCHIVES OF PEDIATRICS, cilt.59, sa.5, ss.476-479, 2024 (ESCI)
ABSTRACT
Objective: Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual
Development (DSD). There is insufficient information regarding clinical findings and growth
patterns. This study aimed to provide more information about mixed gonadal dysgenesis,
which has not yet been sufficiently defined.
Materials and Methods: Data from 10 patients diagnosed with mixed gonadal dysgenesis were
retrospectively reviewed. Clinical presentations, complaints at admission, imaging, genetic
results, and treatments received by the patients were examined. Gonadal status and the
gender of the patients were reared and evaluated by a multidisciplinary council decision. If
received, growth hormone treatment doses and height gains were examined.
Results: The patients’ ages at admission range from 6 months to 17.5 years. The median height
SDS of the patients was −0.75 (2.73), the mean body weight SDS was −0.49 (±1.46), and the
mean body mass index (BMI) SDS was 0.26 (±0.97). The complaints at admission varied,
including ambiguous genitalia, short stature, and absence of menstruation. Some patients are
completely in the female phenotype, while some are inadequately virilized male phenotype.
External Masculinization Score (EMS) ranges from 1 to 6.5. The decision to raise 6 patients
as female and 4 patients as male was made by a multidisciplinary council. Growth hormone
treatment was administered to patients raised as female and diagnosed with short stature. The
height SDS gain in treated patients was 0.42 (±0.49).
Conclusion: Due to its rarity and varied clinical presentation, our knowledge about mixed
gonadal dysgenesis is limited. Therefore, early diagnosis and individualized treatment plans
are crucial for this patient group.
Keywords: Ambiguous genitalia, disorders of sexual development, growth hormone, mixed
gonadal dysgenesis, short stature