Hassan Samar S, Mukhwana Renson, Musa Salwa, Ibrahim Areej A B, Babiker Omer, Abdullah Mohamed A
Gafaar Ibn Auf Paediatric Tertiary Hospital, Khartoum, Sudan.
Gertrude's Children Hospital, Nairobi, Kenya.
Sudan J Paediatr. 2021;21(1):53-60. doi: 10.24911/SJP.106-1588448825.
There is paucity of reported information regarding aetiology and clinical profile of hypopituitarism from resource-limited countries particularly in populations with high rates of consanguineous marriages. Here, we are reporting the first data on this aspect from Sudan. This is a descriptive, retrospective, hospital-based study, carried out in the two main paediatric endocrinology centres in Sudan (Gafaar Ibn Auf Paediatric Tertiary Hospital and Soba University Hospital, Khartoum) from January 2006 up to December 2014. Patients' records were reviewed for relevant demographical, clinical, hormonal and radiological data using pretested study forms. The study included 156 patients. One hundred and one patients were males (M: F = 1.8:1). The commonest age groups were adolescents (57.7%). Consanguinity was found in 77.8% of patients overall and 91% of patients with congenital aetiologies. The commonest clinical presentation was short stature (93.5%). Congenital causes (86.5%) were more prevalent than acquired causes (13.5%). There were six family clusters with multiple pituitary hormone deficiencies (MPHD) and three families with isolated growth hormone (GH) deficiency (IGHD). Most of the congenital cases with MPHD were phenotypic for gene mutation (77.5% of sporadic cases and 50% of familial cases). Craniopharyngioma was the commonest of the acquired causes (10.2%). GH was the most frequent hormone deficient (89.7%). Abnormal Magnetic resonance imaging brain findings were significantly seen more in MPHD in comparison to IGHD. The genetic forms of hypopituitarism in populations with high rates of consanguineous marriage like Sudan may be higher than those reported internationally. Molecular genetic studies are, therefore, highly recommended.
关于资源有限国家垂体功能减退症的病因及临床特征，尤其是在近亲结婚率高的人群中的相关报道信息匮乏。在此，我们报告来自苏丹这方面的首批数据。这是一项基于医院的描述性回顾性研究，于2006年1月至2014年12月在苏丹的两个主要儿科内分泌中心（喀土穆的加法尔·伊本·奥夫儿科三级医院和索巴大学医院）开展。使用预先测试的研究表格对患者记录进行回顾，以获取相关的人口统计学、临床、激素及放射学数据。该研究纳入了156例患者。其中101例为男性（男：女 = 1.8:1）。最常见的年龄组为青少年（57.7%）。总体上77.8%的患者存在近亲结婚情况，先天性病因患者中这一比例为91%。最常见的临床表现是身材矮小（93.5%）。先天性病因（86.5%）比后天性病因（13.5%）更常见。有6个家族聚集性病例存在多种垂体激素缺乏（MPHD），3个家族存在孤立性生长激素（GH）缺乏（IGHD）。大多数先天性MPHD病例具有 基因突变的表型（散发性病例的77.5%和家族性病例的50%）。颅咽管瘤是最常见的后天性病因（10.2%）。GH是最常缺乏的激素（89.7%）。与IGHD相比，MPHD患者中磁共振成像脑部异常表现明显更多。在像苏丹这样近亲结婚率高的人群中，垂体功能减退症的遗传形式可能高于国际上报道的情况。因此，强烈推荐进行分子遗传学研究。
