Familial glucocorticoid deficiency caused by the NNT gene mutation: a case report and literature review / 中华实用儿科临床杂志

The clinical data, diagnose and treatment of a child with familial glucocorticoid deficiency (FGD) caused by the NNT gene mutation who was treated in the Department of Endocrinology, Children′s Hospital Affiliated to Nanjing Medical University in November 2014 were retrospectively analyzed.The female child with 1 year and 5 months old presented with 6 months of skin pigmentation.Laboratory examinations showed decreased cortisol and increased adrenocorticotropic hormone.During the follow-up period, she developed convulsions and precocious puberty.Whole exome sequencing revealed that the patient carried a homozygous mutation c. 1054G > A (p.G352R) in exon 8 of the NNT gene, which was a newly reported gene mutation.Domestic cases of FGD caused by the NNT gene mutation has never been reported yet.Through literature review of a total of 40 reported children with FGD caused by the NNT gene mutation, typical manifestations included skin pigmentation, hypoglycemia and seizures, alongside mineralocorticoid deficiency, precious puberty, abnormal male gonadal development, thyroid diseases and heart diseases.

Familial Glucocorticoid Deficiency Presenting with Skin Hyperpigmentation: A Case Report.

Familial Glucocorticoid Deficiency (FGD) has highmorbidity and mortality, if not diagnosed and managedin time. The patient is liable to have hypoglycaemiawhich could be complicated by seizure and braindamage. Also these patients if not treated appropriately;will have high risk of infections and failure to thrive.We report a case of FGD baby of full term, male, birthweight 3 kg and born by uneventful normal delivery.On the second day of life, the baby had hypoglycaemiaand later he developed mucosal membrane and skinhyperpigmentation. Critical sample during thehypoglycemic episode showed low serum cortisol, highadrenocorticotropic hormone level, normal serumelectrolytes and normal kidney function. Arare familialglucocorticoid deficiency was diagnosed in time bydoing appropriate investigations; includes criticalsample during hypoglycaemia and the case wasmanaged successfully by hydrocortisone 5 mg orallyonce daily.

Progress in the study of familial glucocorticoid deficiency / 中华内分泌代谢杂志

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by a single cortisol deficiency and normal aldosterone and renin levels, reported by Shepard et al. in 1959 for the first time. The age of FGD onset may be early or later, from neonatal to adult. The clinical manifestations vary due to the different age at onset. The clinical identification was difficult and would be prone to misdiagnosis because the disease may have many similarities with primary adrenal insufficiency (PAI) caused by other reasons.

Advances in familial glucocorticoid deficiency / 国际儿科学杂志

Familial glucocorticoid deficiency (FGD) known as one of primary congenital adrenal hypoplasia diseases,is a rare autosomal recessive disorder.FGD is characterised by isolated glucocorticoid deficiency,therefore the patients exhibit low serum cortisol and high plasma adrenocorticotropic hormone levels.The patients typically present with hypoglycemia,recurrent infections,hyperpigrnentation and tall stature.Much research on the pathogenic genes and molecular biology mechanisms have been performed,and presently some pathogenic genes have been discovered.In order to enhance the clinicians'understanding of familial glucocorticoid deficiency,this review focuses on the pathogenic genes,pathogenesis,diagnosis and treatments of the disease.

Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a 2 month-old boy of nonconsanguineous parents, presented with hyperpigmentation. Physical examination showed diffuse dark skin of body including, oral mucosa, gum, hands, nails and scrotum. Laboratory evaluation revealed low serum cortisol (0.3 microgram/dL), with very high plasma ACTH level (18,000 pg/mL), and serum cortisol level did not increase after ACTH stimulation test. Serum sodium, potassium, plasma renin activity, aldosterone and 17-hydroxyprogesterone were normal. Sequence analysis of the ACTH receptor (MC2R) gene showed a homozygous mutation of D103N. Diagnosis of FGD was made and treatment started with oral hydrocortisone.