Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report (original) (raw)
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Familial Glucocorticoid Deficiency Presenting as Progressive Hyperpigmentation
International Journal of Current Research in Biosciences and Plant Biology, 2018
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease caused by resistant of ACTH receptor at adrenal cortex leading to (usually) isolated glucocorticoid deficiency with normal mineralocorticoid secretion. Patients with FGD usually presented in neonatal-childhood period with signs /symptoms of glucocorticoid deficiency such as hypoglycemia, hyperpigmentation, Failure to thrive, shock and death if treatment was delayed. Labs usually revealed high ACTH, low cortisol but normal 17 OHP, electrolyte, androgen. Here we describe a three years old, Saudi girl, with history of progressive hyperpigmentation since first year of life, but no history of hypoglycaemia or neonatal jaundice, no history of a lacrimation or dysphagia and positive similar family history. She had generalized Hyperpigmentation with normal female genitalia. Her cortisol was low with high ACTH level, but normal electrolyte, 17 Hydroxyprogesterone, aldosterone, renin, androgen. Familial Glucocorticoid Deficiency was diagnosed and maintenance dose of hydrocortisol was started and patient pigmentation was improved few weeks later.
Journal of Medical Case Reports
Background: Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Most patients are diagnosed following episodes of hypoglycemia or convulsion. We report the case of an infant with familial glucocorticoid deficiency who presented with hyperpigmentation, gigantism, and motor developmental delay without documented hypoglycemia, convulsion, or circulatory collapse. Case presentation: A 10-month-old Sri Lankan Sinhalese baby boy born to consanguineous parents presented with generalized hyperpigmentation and overgrowth since birth. He had marginal gross motor developmental delay. His weight, length, and head circumference were above normal range for his age. Investigations revealed low serum cortisol and high adrenocorticotrophic hormone levels with no cortisol response following adrenocorticotropin stimulation. Serum electrolytes and aldosterone levels were normal. A diagnosis of familial glucocorticoid deficiency was made based on isolated glucocorticoid deficiency, hyperpigmentation, and tall stature. Conclusions: This case report highlights that glucocorticoid deficiency can present without documented hypoglycemia and circulatory collapse and a high degree of suspicion is needed in diagnosis.
Familial Glucocorticoid Deficiency Presenting with Skin Hyperpigmentation: A Case Report
Journal of Krishna Institute of Medical Sciences University, 2019
Familial Glucocorticoid Deficiency (FGD) has high morbidity and mortality, if not diagnosed and managed in time. The patient is liable to have hypoglycaemia which could be complicated by seizure and brain damage. 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, birth weight 3 kg and born by uneventful normal delivery. On the second day of life, the baby had hypoglycaemia and later he developed mucosal membrane and skin hyperpigmentation. Critical sample during the hypoglycemic episode showed low serum cortisol, high adrenocorticotropic hormone level, normal serum electrolytes and normal kidney function. Arare familial glucocorticoid deficiency was diagnosed in time by doing appropriate investigations; includes critical sample during hypoglycaemia and the case was managed successfully by hydrocortisone 5 mg orally once daily.
Indian journal of endocrinology and metabolism, 2012
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by glucocorticoid deficiency, high ACTH levels and normal mineralocorticoid levels. FGD is caused due to defects in adrenocorticotropic hormone (ACTH) signaling. The defect can be caused by mutations in genes encoding the ACTH receptor (melanocortin 2 receptor) or its accessory protein. Here we report three siblings with FGD. The second in order of siblings presented at an age of 15 years with history of diffuse hyperpigmentation since childhood. Their parents were non consanguineous. The patients were hyperpigmented and taller compared with their parents. None of the siblings had ambiguous genitalia or neurological abnormalities. There was no history of tuberculosis in the family. Biochemical investigations revealed low serum cortisol (<1 μg/dl) and elevated plasma ACTH (>1250 pg/ml). Serum electrolytes, aldosterone, and plasma renin activity was normal. Based on the above mentioned ...
Early diagnosis in familial glucocorticoid deficiency
Dermato-Endocrinology
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patient. Her presenting features following an upper respiratory tract infection were hypoglycemia, seizures as well as deep hyperpigmentation of the limbs and lips. A low cortisol concentration, elevated ACTH level and normal electrolytes and aldosterone level all supported the diagnosis of primary glucocorticoid deficiency. Parents were counseled about the diagnosis, management and the lifelong requirement of steroids. FGD is an easily treatable disease when recognized but frequently missed due to a non-specific presentation. FGD is a treatable disease, delayed diagnosis and treatment can lead to significant morbidity.
Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive potentially life-threatening condition, characterized by glucocorticoid deficiency, preserved aldosterone/renin secretion, and secondary rise in plasma adrenocorticotropic hormone level. This occurs due to either mutation in adrenocorticotropic receptor (25%, FGD Type-1) or in the MC2 receptor accessory protein (15%–20%). However, in about 50% patients, no identifiable mutations have been identified. Clinically, it manifests with weakness, fatigue, weight loss, anorexia, nausea, vomiting, diarrhea, abdominal pain, hypoglycemia, and hypothermia. Progressive mucocutaneous pigmentation is a conspicuous presentation. Repeated hypoglycemia may result in seizure, persistent neurological, severe mental disability, and even sudden death. Standard therapy is oral glucocorticoids (10–15 mg/m2). Patients and Results: Two familial cases of FGD were put on progressively increasing doses of oral glucocorticoids (10 mg, 15 mg, and 20 mg/m2/day, each for 6 weeks) to achieve the best response without any adverse effects. One patient had excellent improvement with 15 mg/ m2/day, and another required 20 mg/m2/day. The latter patient had excellent overall improvement with only moderate improvement in pigmentation. Conclusion: Glucocorticoids replacement with optimum dose is necessary in FGD to promote physical and neurological growth and to prevent adrenal crises, hypotension, hypoglycemia, and sudden death. Higher dose than mentioned in literature (15 mg/m2/day) may be required in selected cases. Mucocutaneous pigmentation may require even higher dose than we used. More studies are required.
Familial Glucocorticoid Deficiency Type 2 in Two Neonates
Journal of Perinatology, 2003
The first patient, a male baby, was born at 40 weeks' gestation by spontaneous vaginal delivery to a gravida 3, para 2 woman following an uncomplicated pregnancy. The parents are first cousins and of Yemeni origin. The mother is 29 years and the father 40 years old. Two siblings, a sister (4 years) and a brother (2 years) are normal. Two of the father's siblings, a girl and a boy, died in the neonatal period from unknown causes. A relative also had two children who died in the neonatal period from unknown causes more than 5 years ago ).
Isolated glucocorticoid deficiency: metabolic and endocrine studies in a 5-year-old boy
European Journal of Pediatrics, 1985
Metabolic and endocrine studies on a 7-year-old boy who presented with hypoglycaemic convulsions are reported in detail, proving the diagnosis of isolated ACTH deficiency-a rare cause of hypoglycaemia in childhood. Adrenaline secretion during insulin-induced hypoglycaemia was reduced. Low blood alanine levels occurred during starvation-induced hypoglycaemia, together with *A list of these references can be obtained from the authors.