Tortora Anna, La Sala Domenico, Lonardo Fortunato, Vitale Mario
Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi, Salerno, Italy.
UOSD Genetica Medica, AO Rummo, Benevento, Italy.
BMJ Case Rep. 2019 May 10;12(5):e228662. doi: 10.1136/bcr-2018-228662.
Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Maternal UPD of the chromosome 14 (UPD(14)mat, Temple syndrome) is a rare disorder with heterogeneous clinical presentation. Here, we report a case of UPD(14)mat with a small supernumerary marker chromosome in a 6-year-old baby girl, presenting endocrinological disorders and incomplete clinical presentation. She came to our attention because of precocious beginning of pubarche and normal stature. Most of Temple syndrome signs were lacking. Provocative tests diagnosed incomplete growth hormone (GH) response and confirmed precocious puberty. One year treatment with recombinant human GH and gonadotropin-releasing hormone (GnRH) agonists proved successful, increasing height and arresting puberty. We recommend provocative tests for GH in UPD(14)mat as a GH deficiency can be hidden by a concurrent precocious puberty. Concomitant human GH and GnRH analogue treatment can be pursued.
单亲二体（UPD）是一种先天性疾病，其特征是二倍体后代中存在两条从同一亲本遗传而来的同源染色体。14号染色体的母源单亲二体（UPD(14)mat，坦普尔综合征）是一种罕见疾病，临床表现具有异质性。在此，我们报告一例6岁女婴患UPD(14)mat并伴有一条小的额外标记染色体的病例，该患儿出现内分泌紊乱且临床表现不典型。她因青春期阴毛过早出现且身材正常而引起我们的关注。大多数坦普尔综合征的体征并不存在。激发试验诊断为生长激素（GH）反应不完全，并证实为性早熟。使用重组人生长激素和促性腺激素释放激素（GnRH）激动剂进行一年的治疗被证明是成功的，身高增加且青春期停止。我们建议对UPD(14)mat患者进行GH激发试验，因为同时存在的性早熟可能掩盖GH缺乏。可以同时进行人生长激素和GnRH类似物治疗。
