Brunerova Ludmila, Cermakova Ivana, Kalvachova Bozena, Skrenkova Jana, Poncova Renata, Sedlak Petr
Faculty Hospital Královské Vinohrady, 3rd Faculty of Medicine, II. Department of Internal Medicine, Prague, Czechia.
Institute of Endocrinology, Prague, Czechia.
Front Endocrinol (Lausanne). 2017 Nov 13;8:309. doi: 10.3389/fendo.2017.00309. eCollection 2017.
Hypopituitarism as a result of PROP1 (prophet of PIT1) mutation represents the most common genetic cause of combined deficiency of pituitary hormones and due to growth retardation it is typically diagnosed in childhood.
We present a unique case report of a prepubertal woman with growth retardation in whom combined pituitary hormone deficiency [central hypopituitarism, hypogonadism, and growth hormone (GH) deficiency] caused by homozygous mutation c.150delA in the PROP1 gene was diagnosed late in young adulthood due to unfavorable life circumstances. Through cautiously combined GH therapy and sex hormone therapy, she has achieved better than expected height (exceeding predictions based on family height) and sexual maturation, including regular menstrual cycles.
Early diagnosis of panhypopituitarism due to PROP1 mutation is essential for successful treatment; however, our case report shows that carefully titrated GH treatment and sex hormone substitution, although initiated in adulthood, enable restoration of physiological growth and sexual development in a hormonally infantile adult woman with a PROP1 mutation.
PROP1（PIT1的预言家）突变导致的垂体功能减退是垂体激素联合缺乏最常见的遗传原因，由于生长发育迟缓，通常在儿童期被诊断出来。
我们报告了一例独特的病例，一名青春期前生长发育迟缓的女性，因生活环境不利，在成年早期才被诊断出由PROP1基因纯合突变c.150delA导致的垂体激素联合缺乏（中枢性垂体功能减退、性腺功能减退和生长激素缺乏）。通过谨慎联合生长激素治疗和性激素治疗，她的身高达到了优于预期的水平（超过了基于家族身高的预测），并实现了性成熟，包括规律的月经周期。
PROP1突变导致的全垂体功能减退的早期诊断对于成功治疗至关重要；然而，我们的病例报告表明，尽管在成年期开始，但仔细滴定的生长激素治疗和性激素替代能够使一名患有PROP1突变的激素幼稚成年女性恢复生理生长和性发育。
