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Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism.

ABSTRACT: Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201?cm tall with a span of 217?cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Learning points:Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.Unusual, previously not described AIP variant with loss of the stop codon.Phenocopy may occur in families with a disease-causing germline mutation.

SUBMITTER: Imran SA

PROVIDER: S-EPMC5811772 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Unusual <i>AIP</i> mutation and phenocopy in the family of a young patient with acromegalic gigantism.

Imran Syed Ali SA Aldahmani Khaled A KA Penney Lynette L Croul Sidney E SE Clarke David B DB Collier David M DM Iacovazzo Donato D Korbonits Márta M

Endocrinology, diabetes & metabolism case reports 20180209

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (<i>AIP</i>) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal ...[more]

PMID: 29472986

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Project description:Introductionand importance: Zinner syndrome is a rare congenital malformation of the seminal vesicles and the homolateral upper urinary tract. While the majority of patients remain asymptomatic and are discovered incidentally, others present symptoms such as micturition or ejaculatory difficulties, or pain. We report a case of Zinner syndrome in a 32-year-old patient with painful ejaculation and discuss the diagnosis and treatment difficulties.Case presentationA 32-year-old married patient was consulted for pelvic pain associated with painful ejaculation that had been evolving for six months. The clinical examination was normal. Routine laboratory studies of blood and urine were normal. The patient was explored by ultrasound which showed the absence of the right kidney and the presence of a 7 cm right lateral prostatic cystic mass. On MRI, the right kidney was not visualized. Multiple cysts were seen in the right seminal vesicle. Surgical excision of the cyst by laparotomy was performed. The patient had an uneventful recovery and was discharged on the third postoperative day.Clinical discussionCongenital malformations of the seminal vesicles are often associated with those of the ipsilateral upper urinary tract, as the ureteral and seminal vesicle buds originate from the mesonephric duct. The syndrome often occurs in the second and third decades of life, especially after the onset of sexual activity. The most common symptoms were dysuria, perineal pain, epididymitis, and painful ejaculation. Diagnostic modalities include ultrasound, MRI, and cystoscopy. In patients with symptoms, the therapeutic management of the cyst includes ultrasound-guided aspiration and laparoscopic or open surgical excision.ConclusionSeminal vesicle cysts associated with homolateral renal agenesis or hypoplasia are a rare urologic anomaly. The treatment depends on the patient's symptoms. surgical excision of seminal vesicle cysts may be needed for large cysts causing obstructive symptoms.

Dataset Information

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism.

Publications

Unusual <i>AIP</i> mutation and phenocopy in the family of a young patient with acromegalic gigantism.

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