We report a case of a 16 years old girl who presented sequentially with primary amenorrhoea, hypertension and hypokalaemia. Eight years later, she was finally diagnosed with 17alpha-hydroxylase deficiency congenital adrenal hyperplasia. Previous antihypertensive medications were stopped. Hydrocortisone alone successfully maintained normotension and normokalaemia.
Adrenal Hyperplasia, Congenital/*diagnosis ; Adrenal Hyperplasia, Congenital/*etiology ; Diagnosis, Differential ; Hypertension/etiology ; Hypogonadism/etiology ; Hypokalemia/etiology ; Steroid Hydroxylases/*deficiency

PURPOSE: The fingertip is the most commonly injured part of the hand and its injury frequently results in avulsion or crushing of a segment of the nail bed and fracture of the distal phalangeal bone. Restoration of a flat and smooth nail bed is essential for regrowth of a normal nail, which is important not only for cosmetic reasons but also for tactile capability of the fingertip. It is also anatomical reduction of the distal phalanx to promote patient's cosmetics and prevent nail bed deformity. Absence or no replacement of the nail plate results in obliterated proximal skin fold. When the avulsed nail plate cannot be returned to its anatomic position or when it is absent, we use a synthetic material for splinting the nail bed and alternative reductional method for distal phalangeal bone fracture, especially, instead of hardwares. METHODS: From January of 2006 to June of 2009, a total of ten patients and fourteen fingers with crushing or avulsion injuries of the fingertip underwent using the artificial nails for finger splint. We shaped artificial nails into the appropriate sizes for use as fingernail plates. We placed them under the proximal skin fold and sutured to the fold proximally and to the lateral and medial edges of the nail bed or to the distal fingertip. Our splints were as hard as K-wire and other fixation methods and more similar to anatomic nail plates. Artificial nails were kept in place for at least 3 weeks. RESULTS: No artificial nail related complication was noted in any of the ten cases. No other nail fold or nail bed complications were observed, except for minor distal nail deformity because of trauma. CONCLUSION: In conclusion, in order to secure the nail bed after injury and reduce the distal phalangeal bone fracture, preparing a nail bed splint from a artificial commercial nail is a cheap and effective method, especially, for crushed or avulsion injuries of the fingertip.
Amputation ; Congenital Abnormalities ; Cosmetics ; Fingers ; Fractures, Bone ; Hand ; Humans ; Hypogonadism ; Mitochondrial Diseases ; Nails ; Ophthalmoplegia ; Skin ; Splints

X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is located on the short arm of chromosome X (Xp21). The NR0B1 gene plays an important role in normal development and function of both the adrenal and gonadal axes and some patients with the disease can present in adolescence with hypogonadotropic hypogonadism. Testicular microlithiasis is an ultrasonographic finding of unknown etiology that has been associated with several benign conditions such as cryptorchidism, congenital adrenal hyperplasia, varicoceles, and testicular malignancy. We report the case of an 11-year-old boy who was diagnosed at the age of 8 months with X-linked AHC due to adrenal failure and presented testicular microlithiasis during follow-up. To the best of our knowledge, this is the first case of an X-linked AHC patient diagnosed with testicular microlithiasis in follow-up.
Adolescent ; Adrenal Hyperplasia, Congenital ; Adrenal Insufficiency ; Arm ; Child ; Cryptorchidism ; Follow-Up Studies ; Gonads ; Humans ; Hypogonadism ; Male* ; Varicocele

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.
Adolescent ; Adrenal Cortex ; Adrenal Hyperplasia, Congenital ; Adrenal Insufficiency ; Clinical Coding ; Female ; Humans ; Hyperpigmentation ; Hypogonadism ; Hypothalamus ; Infant, Newborn* ; Korea* ; Ovary ; Pituitary Gland ; Point Mutation ; Skin ; Testis

PURPOSE: There are some cases which the patients, especially the pedestrians whose feet have been run over by cars. We will look closely into the mechanism that causes friction burn, the amount of damage on the wound, and possible solutions for the treatment. METHODS: From January 2006 till December 2009, the study included 18 hospitalized patients. Charts about friction burn by tire were reviewed. We reviewed patient's age, sex, place where they got injury, type of burn, surgery types and the period of hospitalization. RESULTS: The average age was of acute injury group 9.3 years old, 22.7 years in secondary deformity group. 7 patients were male, 11 patients were female. Average hospitalization period was 23.6 days and mean follow up period was 7.3 months. There was 1 patient with third degree burn accompanying soft tissue defect with tendon injury. 14 patients had second degree of burn, and they immediately had taken skin graft. 1 patient had to receive the free flap. In addition, 3 patients who have damaged 10 to 20 years ago got cicatrix and had scar release and skin graft because of burn scar contracture and hypertrophic scar. CONCLUSION: Various types of friction burn have been observed - from burns that can be treated with dressing only to those require free flap. Therefore proper and timely treatments must be done in order to reduce the chance of developing a complication, and to provide early recovery for the patients as well.
Bandages ; Burns ; Cicatrix ; Cicatrix, Hypertrophic ; Congenital Abnormalities ; Contracture ; Female ; Follow-Up Studies ; Foot ; Free Tissue Flaps ; Friction ; Hospitalization ; Humans ; Hypogonadism ; Male ; Mitochondrial Diseases ; Ophthalmoplegia ; Skin ; Tendon Injuries ; Transplants

Klinefelter's syndrome is the most common congenital abnormality that causes primary hypogonadism. It is associated with diseases that predominantly affect women, such as systemic lupus erythematosus (SLE), and it can sometimes cause veno-occlusive disease. We experienced a case of Budd-Chiari syndrome (BCS) in a 33-year-old man with Klinefelter's syndrome presented with hematemesis and edema in both lower extremities. The clinical and laboratory findings were compatible with SLE, antiphospholipid syndrome, and BCS. To the best of our knowledge, this is the first case report to describe a simultaneous presentation of these four clinical syndromes in a single patient.
Adult ; Antiphospholipid Syndrome* ; Budd-Chiari Syndrome* ; Congenital Abnormalities ; Edema ; Female ; Hematemesis ; Humans ; Hypogonadism ; Klinefelter Syndrome* ; Liver Cirrhosis ; Lower Extremity ; Lupus Erythematosus, Systemic*

PURPOSE: Absorbable plate and screw fixation is widely used technique for internal rigid fixation in craniomaxillofacial surgery. However, there are some potential problems associated with the use of plate. The purpose of this study is to evaluate the feasibility of bone fixation in facial fracture using absorbable mesh in place of absorbable plate. METHODS: The records of 55 patients with zygomaticomaxilla fractures treated by open reduction, performed by the author from February 2008 to May 2009, were retrospectively reviewed. Patients were selected to receive absorbable mesh fixation. The incidence of all complications including infection, hypoesthesia, and deformity was examined. Analysis with postoperative computed tomography follow-up demonstrates degree of reduction. RESULTS: Forty-six patients met criteria for inclusion in the study. All patients went on to satisfactory healing without complication. Postoperative computed tomography revealed good bony alignment similarly non affected side. CONCLUSION: This study demonstrates that the rigid internal fixation of fractured bone fragments using absorbable mesh is more effective than absorbable plate, especially in comminuted fracture of maxilla.
Absorbable Implants ; Congenital Abnormalities ; Facial Bones ; Follow-Up Studies ; Fractures, Comminuted ; Humans ; Hypesthesia ; Hypogonadism ; Incidence ; Maxilla ; Mitochondrial Diseases ; Ophthalmoplegia ; Retrospective Studies ; Surgical Fixation Devices

PURPOSE: Absorbable plate and screw fixation is widely used technique for internal rigid fixation in craniomaxillofacial surgery. However, there are some potential problems associated with the use of plate. The purpose of this study is to evaluate the feasibility of bone fixation in facial fracture using absorbable mesh in place of absorbable plate. METHODS: The records of 55 patients with zygomaticomaxilla fractures treated by open reduction, performed by the author from February 2008 to May 2009, were retrospectively reviewed. Patients were selected to receive absorbable mesh fixation. The incidence of all complications including infection, hypoesthesia, and deformity was examined. Analysis with postoperative computed tomography follow-up demonstrates degree of reduction. RESULTS: Forty-six patients met criteria for inclusion in the study. All patients went on to satisfactory healing without complication. Postoperative computed tomography revealed good bony alignment similarly non affected side. CONCLUSION: This study demonstrates that the rigid internal fixation of fractured bone fragments using absorbable mesh is more effective than absorbable plate, especially in comminuted fracture of maxilla.
Absorbable Implants ; Congenital Abnormalities ; Facial Bones ; Follow-Up Studies ; Fractures, Comminuted ; Humans ; Hypesthesia ; Hypogonadism ; Incidence ; Maxilla ; Mitochondrial Diseases ; Ophthalmoplegia ; Retrospective Studies ; Surgical Fixation Devices

Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. Although the vast majority of KS cases are sporadic, some X-linked recessive (KAL1), autosomal dominant (FGFR1), and autosomal recessive (most commonly GNRHR) modes of inheritance have been described. Two boys were referred to our department because of cryptorchidism and the absence of puberty. Upon laboratory evaluation they were diagnosed with hypogonadotropic hypogonadism. Agenesis of the olfactory bulbs was detected in radiologic tests, and total deletion of the KAL1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). Although cryptorchidism was diagnosed in the siblings, only the older brother suffered from sensorineural hearing loss and right renal agenesis, a feature that had been reported in X-linked KS. We describe herein the clinical heterogeneity of two affected brothers who carry a complete deletion in KAL1; this is the first case of familial Kallmann syndrome due to the complete deletion of the KAL1 gene reported in Korea.
Congenital Abnormalities ; Cryptorchidism ; Hearing Loss, Sensorineural ; Humans ; Hypogonadism ; Kallmann Syndrome ; Kidney ; Kidney Diseases ; Korea ; Male ; Multiplex Polymerase Chain Reaction ; Olfaction Disorders ; Olfactory Bulb ; Population Characteristics ; Puberty ; Siblings ; Wills

Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. Although the vast majority of KS cases are sporadic, some X-linked recessive (KAL1), autosomal dominant (FGFR1), and autosomal recessive (most commonly GNRHR) modes of inheritance have been described. Two boys were referred to our department because of cryptorchidism and the absence of puberty. Upon laboratory evaluation they were diagnosed with hypogonadotropic hypogonadism. Agenesis of the olfactory bulbs was detected in radiologic tests, and total deletion of the KAL1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). Although cryptorchidism was diagnosed in the siblings, only the older brother suffered from sensorineural hearing loss and right renal agenesis, a feature that had been reported in X-linked KS. We describe herein the clinical heterogeneity of two affected brothers who carry a complete deletion in KAL1; this is the first case of familial Kallmann syndrome due to the complete deletion of the KAL1 gene reported in Korea.
Congenital Abnormalities ; Cryptorchidism ; Hearing Loss, Sensorineural ; Humans ; Hypogonadism ; Kallmann Syndrome ; Kidney ; Kidney Diseases ; Korea ; Male ; Multiplex Polymerase Chain Reaction ; Olfaction Disorders ; Olfactory Bulb ; Population Characteristics ; Puberty ; Siblings ; Wills