Gonadotropin-Dependent Precocious Puberty in a Patient with X-Linked Adrenal Hypoplasia Congenita Caused by a Novel DAX-1 Mutation

2011 ◽  
Vol 75 (2) ◽  
pp. 153-156 ◽  
Author(s):  
Sukran Darcan ◽  
Damla Goksen ◽  
Samim Ozen ◽  
Ferda Ozkinay ◽  
Burak Durmaz ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the Pathomechanism

2018 ◽  
Vol 91 (5) ◽  
pp. 336-345 ◽  
Author(s):  
Stella A. Nagel ◽  
Michaela F. Hartmann ◽  
Felix G. Riepe ◽  
Stefan A. Wudy ◽  
Martin Wabitsch
Keyword(s):  
Gene Mutation ◽  
Precocious Puberty ◽  
Adrenocorticotropic Hormone ◽  
Pubertal Development ◽  
Hypogonadotropic Hypogonadism ◽  
Bone Age ◽  
Pubic Hair ◽  
Adrenal Hypoplasia Congenita ◽  
Body Odour ◽  
Adrenal Hypoplasia

Background/Aims: Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) classically associated with hypogonadotropic hypogonadism. Unexpectedly, precocious puberty (PP) has been reported in some cases, its mechanism remaining unclear. Methods: We longitudinally studied a boy with AHC due to DAX1 gene mutation who developed peripheral PP at age 4.5 years. Initially he presented pubic hair, penile enlargement, advanced bone age and elevated testosterone levels. PP progressed with acne, body odour and ejaculations. In addition, we summarized reported findings of patients with DAX1 mutations and PP in the literature in a structured manner providing a basis to discuss possible pathomechanisms of PP in DAX1 patients. Results: In our patient, hydrocortisone treatment was increased to 20 mg/m2/day as suggested in similar published cases. However, despite the suppression of adrenocorticotropic hormone (ACTH), this remained without clinical effect or change in laboratory results. The progression of symptoms of pubertal development was well suppressed under cyproterone acetate treatment. Twenty-four-hour steroid urine excretion rate measurements excluded an effect of adrenal androgens and showed a prepubertal rise of excreted testosterone. Testes size remained small. GnRH testing showed peripheral PP. Conclusion: We hypothesize that an intrinsic, gonadotropin- and ACTH-independent activation of steroidogenesis in the DAX1 deficient testes leads to PP in AHC patients with DAX1 mutations.

Novel Mutations in DAX1 of X-Linked Adrenal Hypoplasia Congenita Over Several Generations in One Family

2013 ◽  
Vol 19 (4) ◽  
pp. e105-e111 ◽  
Author(s):  
Xu Xiao-qin ◽  
Feng Yue-ying ◽  
Yuan Wen-xia ◽  
Huang Ke ◽  
Liang Li ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Delayed diagnosis of adrenal hypoplasia congenita in two adult brothers

1995 ◽  
Vol 28 (3) ◽  
pp. 333
Author(s):  
V. Chetty ◽  
J.D. Booth ◽  
E. Dunn ◽  
S. Hill ◽  
G. Luxton
Keyword(s):  
Delayed Diagnosis ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

scholarly journals A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

2012 ◽  
Vol 56 (8) ◽  
pp. 496-500 ◽  
Author(s):  
Claudilene Battistin ◽  
Hamilton Cabral de Menezes Filho ◽  
Sorahia Domenice ◽  
Mirian Yumie Nishi ◽  
Thais Della Manna ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Failure To Thrive ◽  
The Novel ◽  
Site Analysis ◽  
Adrenal Hypoplasia Congenita ◽  
Normal Individuals ◽  
Exon 1 ◽  
Adrenal Hypoplasia ◽  
Low Levels

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient. Arq Bras Endocrinol Metab. 2012;56(8):496-500

X-linked adrenal hypoplasia congenita: DAX1 mutation

2019 ◽  
Vol 493 ◽  
pp. S232
Author(s):  
S. Larrauri Monterroso ◽  
J. Del Olmo Sedano ◽  
D. Armas Méndez ◽  
I. Martínez Roda ◽  
S. Domenech Manteca ◽  
...  
Keyword(s):  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia
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