Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome

Stamou, Maria; Plummer, Lacey; Galli-Tsinopoulou, Assimina; Stergidou, Dorothea; Koika, Vasiliki; Georgopoulos, Neoklis A.

doi:10.1007/s42000-018-0061-1

Cited by 2 publications

(2 citation statements)

References 7 publications

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“…The condition is related to low levels of LH and FSH, which consequently results in low levels of T in men and estrogen and P in women [166]. There may be other associated malformations [167,168] and even unilateral renal agenesis [169]. Treatment involves lifelong hormone replacement therapy; and early surgical correction in undescended testicles [166].…”

Section: Congenital Hypogonadotropic Hypogonadism (Kallmann Syndrome)mentioning

confidence: 99%

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Acién

2020

JCM

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In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Anomalies in sex determination with sex ambiguity should (usually) include testicular dysgenesis and ovotesticular disorders. Among the anomalies in sex differentiation, we include: (1) males with androgen deficiency (MAD) that correspond to those individuals whose karyotype and gonads are male (XY and testes), but the phenotype can be female due to different hormonal abnormalities. (2) females with androgen excess (FAE); these patients have ovaries and a 46,XX karyotype, but present varying degrees of external genital virilization as a result of an enzyme abnormality that affects adrenal steroid biosynthesis and leads to congenital adrenal hyperplasia; less frequently, this can be caused by iatrogenia or tumors. (3) Kallman syndrome. All of these anomalies are reviewed and analyzed herein, as well as related fertility problems.

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Section: Congenital Hypogonadotropic Hypogonadism (Kallmann Syndrome)mentioning

confidence: 99%

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Acién

2020

JCM

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“…Renal agenesis is considered as a signature phenotype of KAL1 mutations and can be used as an early marker for genetic screening. [ 3 ] In this article, we for the first time reported a diagnosis of KS in a 19-year-old young man with 8 rare urinary disorders demonstrating a conservative change in the KAL1 gene (c.1600G > A, p. Val534Ile) and the PROKR2 gene (c.533G > A, p. Trp178Ser) in this article.…”

Section: Introductionmentioning

confidence: 89%

Eight rare urinary disorders in a patient with Kallmann syndrome

Tian

et al. 2020

Medicine

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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.

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Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome

Cited by 2 publications

References 7 publications

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Disorders of Sex Development: Classification, Review, and Impact on Fertility

Eight rare urinary disorders in a patient with Kallmann syndrome

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