Open AccessEight rare urinary disorders in a patient with Kallmann syndrome
Author(s) -
Huining Tian,
Zi Ye,
You Li,
Lin Sun,
Xiaokun Gang,
Guixia Wang
Publication year - 2020
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000022936
Subject(s) - kallmann syndrome , medicine , hypogonadotropic hypogonadism , hyposmia , micropenis , missense mutation , endocrinology , delayed puberty , anosmia , urinary system , pediatrics , gynecology , surgery , hormone , mutation , genetics , hypospadias , gene , disease , covid-19 , biology , infectious disease (medical specialty)
Rationale: Kallmann syndrome (KS) is a rare inherited genetic disorder characterized by hypogonadotropic hypogonadism and hyposmia/anosmia. Early diagnosis is the key to timely treatment and improvement of prognosis in patients with KS. As the most common complication of KS, renal agenesis can provide clues to early diagnosis and treatment for KS. In this article, we report a case of KS with 8 rare urinary disorders for the first time. Patient concerns: A 19-year-old Chinese man presented with 8 rare urinary disorders and a history of bilateral cryptorchidism came to us for micropenis, hyposmia, and delayed puberty. Diagnosis: The patient presented with hyposmia, low levels of sex hormones and showed a weak response to the GnRH stimulation test leading to a diagnosis of KS. Two missense mutations were found in further whole-exome sequencing: 1) Kallmann syndrome 1 ( KAL1 ) gene in exon11, c.1600G > A, p. Val534Ile; 2) Prokineticin receptor 2 ( PROKR2 ) gene in exon 2, c.533G > A, p. Trp178Ser. which led to a diagnosis of KS. Interventions: The patient underwent replacement therapy of human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG). The patient had previously undergone six surgeries for cryptorchidism and urinary disorders. Outcomes: The patient's puberty retardation was effectively alleviated. His serum testosterone (T) reached a normal level (8.280 nmol/mL). During the follow-up period, he presented with Tanner stage II pubic hair development. Conclusion: In this article, we report 8 rare urinary disorders with missense mutations of KAL1 and PROKR2 in a case of KS. Among them, bilateral giant kidneys, urinary extravasation of right renal, bilateral megalo-ureters, left ureteral terminal obstruction, bilateral renal cyst and bladder emptying disorder are reported for the first time, which enrich the integrity of urinary disorder types and provide clues to genetic counseling in patients with KS.