• Journal of Genetic Medicine
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• v.13 no.1
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• pp.31-35
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• 2016

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

• Journal of Veterinary Clinics
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• v.22 no.2
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• pp.130-135
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• 2005

A retrospective study was performed with 9 cases of spontaneous canine hypoadrenocorticism presented to the Veterinary Medical Teaching Hospital of Seoul National University. The disease occurred mostly in young to middle­aged dogs. Most dogs had chronic nonspecific signs such as episodic anorexia, lethargy and vomiting, but 3 dogs were brought to the hospital with an acute adrenal crisis. Serum biochemical analysis revealed azotemia, abnormal concentration of sodium, potassium, and chloride in almost all the patients. Diagnoses were made based on lack of adrenocortical response to exogenous adrenocorticotropic hormone(ACTH). Most dogs have been responded well with mineralocorticoid and glucocorticoid replacement except for a dog which died during treatment for adrenal crisis. Three dogs treated with fludrocortisone acetate(final median dosage, $31.0{\mu}g/kg/day$) for mineralocorticoid supplementation showed some adverse effects, such as excessive appetite and polyuria/polydipsia. In this study, it was suggested that clinicians should also consider hypoadrenocorticism when they diagnose a patient showing nonspecific gastrointestinal signs with unknown cause or laboratory findings which mimic primary renal diseases.

• Clinical and Experimental Pediatrics
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• v.54 no.3
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• pp.137-140
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• 2011

Testicular adrenal rest tumors (TARTs) are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH) in male patients with congenital adrenal hyperplasia (CAH). A 6-year-old boy presented with testicular enlargement and pubic hair. He was diagnosed with CAH complicated by precocious puberty. However, he was not followed-up. At the age of 17, he visited the outpatient clinic because of testicular enlargement and short stature. His right and left testicles were $10{\times}6$ cm and $7.5{\times}4.5$ cm, respectively. His height was 155.1 cm (standard deviation score (SDS), -2.90). The diagnosis of CAH due to 21 hydroxylase deficiency was confirmed by mutation analysis of CYP21A2. Histological examination of the testes showed large, polygonal, eosinophilic cells with round nuclei and prominent nucleoli, which were suggestive of TARTs. He was treated with dexamethasone for 3 weeks and tumors regressed. Subsequently, dexamethasone was replaced by prednisolone and $9{\alpha}$-fludrocortisone; thereafter, the reduced testis size has been maintained.