Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

Gong, Chunxiu; Li, Lele; Chen, Jiahui; Li, Wenjing

doi:10.1002/ped4.12136

Cited by 3 publications

(4 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In fact, some patients with chromosomal DSD also presented precocious puberty. Chunxiu Gong et al [ 27 ] reported a rare case of Klinefelter syndrome (KS) with CPP and performed a review of the literature that showed different cases in which precocious sex development was found in KS, Turner Syndrome, and congenital adrenal hypoplasia. Some KS cases had abnormal productions of human chorionic gonadotropin via endocrine tumors as pathogenic elements of peripherical precocious puberty.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature

Aversa

Luppino

Corica

et al. 2023

Genes

View full text Add to dashboard Cite

Background: Disorders/Differences of sex development (DSD) are often due to disruptions of the genetic programs that regulate gonad development. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Case Description: A child with a history of micropenis and cryptorchidism. At 8 years of age, he came under our observation for an increase in sexual pubic hair (pubarche). The laboratory parameters and the GnRH test suggested a central precocious puberty (CPP). Treatment with GnRH analogs was started, and we decided to perform genetic tests for DSD. The NGS genetic investigation showed a novel and heterozygous variant in the GATA-4 gene. Discussion: In the literature, 26 cases with 46,XY DSD due to the GATA4 gene were reported. Conclusion: The novel variant in the GATA-4 gene of our patient was not previously associated with DSD. This is the first case of a DSD due to a GATA-4 mutation that develops precocious puberty. Precocious puberty could be associated with DSD and considered a prelude to hypogonadism in some cases.

show abstract

Section: Discussionmentioning

confidence: 99%

“…It is assumed that early activation of the HPG axis may result in CPP and subsequent hypogonadism, due to premature gonadal cell apoptosis, in patients with KS. GnRH agonist therapy allows the suppression of the HPG axis to treat precocious puberty and protect against premature gonadal insufficiency [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature

Aversa

Luppino

Corica

et al. 2023

Genes

View full text Add to dashboard Cite

show abstract

“…[ 14 ] Our recently published studies pointed out that CPP may serve as a prelude to hypogonadism. [ 15 ] In all published papers on MKRN3 till now, only Grandone et al [ 16 ] reported a CPP case harboring the MKRN3 mutation (Pro160Cysfs ∗ 14) presented with the POF (premature menopause at 36 yrs). Therefore, a long-term clinical follow-up is necessary for our present case to evaluate the possible association between MKRN3 mutations and POF.…”

Section: Discussionmentioning

confidence: 99%

A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty

Liu¹,

Fan²,

Gong³

2020

Medicine

View full text Add to dashboard Cite

Rationale: Central precocious puberty (CPP) is caused by the premature activation of the hypothalamic-pituitary-gonadal axis. Recently, the makorin ring finger protein 3 (MKRN3) mutations represent the most common genetic defects associated with CPP. However, the MKRN3 mutation is relatively rare in Asian countries. Here, we identified a novel heterozygous MKRN3 nonsense mutation (p. Gln363 ∗ ) causing CPP in a Chinese girl. Patient concerns: The index case is a 7-year-old Chinese girl who presented rapidly progressive precocious puberty with the onset of menstrual period 2 months after breast development, the advanced bone age (11 years), and the accelerated growth velocity (10 cm/year). Her basal luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels, as well as the peak LH/FSH values after the gonadotropin-releasing hormone (GnRH) stimulation test were significantly elevated. Pelvic B ultrasound showed the presence of ovarian follicles with diameters ≥0.4 cm. Uterine length also indicated the onset of puberty. Contrast-enhanced magnetic resonance imaging (MRI) did not disclose any abnormality in the pituitary. Additionally, our present case was obese companies with impaired glucose tolerance (IGT) at the baseline assessment. Genetic analysis revealed a novel heterozygous nonsense mutation (c1087C>T; p. Gln363 ∗ ) in the maternally imprinted MKRN3 , which inherited from the girl's father. Diagnosis: Combined with the symptoms, hormonal data, and the results of the pelvic B ultrasound, the girl was diagnosed as CPP. Interventions: The girl has been treated with a GnRH analog (3.75 mg every 4 wks) for 1 year and 5 months. Outcomes: The puberty signs have since not progressed during the follow-up period, which indicates that the GnRH analogs treatment is effective. Lessons: This case was obese companied with IGT at the baseline assessment and exhibited stronger LH/FSH response to GnRH stimulation test. Therefore, clinicians should highlight the importance of weight management and the long-term follow-up to monitor the adverse health outcomes, especially for the polycystic ovary syndrome in later life.

show abstract

“…In cases of selective Sertoli cell failure and/or lack of germ cells, testicular volume usually remains small although testosterone production may be active. Boys with partial hypogonadism may also show signs of precocious puberty (173,174).…”

Section: Rationalementioning

confidence: 99%

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

Nordenström

Ahmed

Akker

et al. 2022

European Journal of Endocrinology

View full text Add to dashboard Cite

An Endo-European Reference Network (ERN) guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult, and 2 patient representatives. The guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology and the European Academy of Andrology. The aim was to create practice guidelines for clinical assessment and puberty induction in individuals with congenital pituitary or gonadal hormone deficiency. A systematic literature search was conducted and the evidence graded according to Grading of Recommendations, Assessment, Development and Evaluation system. When evidence was insufficient or lacking, conclusions were based on expert opinion. The guideline includes recommendations for puberty induction with oestrogen or testosterone. Publications on induction of puberty with FSH and hCG in hypogonadotrophic hypogonadism are reviewed. Specific issues in individuals with Klinefelter syndrome or androgen insensitivity syndrome are considered. The expert panel recommend that pubertal induction or sex hormone replacement to sustain puberty should be treated by a multidisciplinary team. Children with a known condition should be followed from the age of 8 years for girls and 9 years for boys. Puberty induction should be individualized but considered at 11 years in girls and 12 years in boys. Psychological aspects of puberty and fertility issues are especially important to address in individuals with a disorder of sex development or congenital pituitary deficiencies. Transition of these young adults highlights the importance of a multidisciplinary approach, to discuss both medical issues and social and psychological issues that arise in the context of these chronic conditions.

show abstract

Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

Cited by 3 publications

References 23 publications

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature

A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

Contact Info

Product

Resources

About