Hypergonadotropic hypogonadism

Classification according to ICD-10
E28.3	Primary ovarian failure
E29.1	Testicular hypofunction
ICD-10 online (WHO version 2019)

The hypergonadotropic hypogonadism is a very rare congenital disease with a sub-function of the gonads (gonads) and with a simultaneously increased concentration of gonadotropins due to reduced or absent response of the gonads to gonadotropins.

Other names are: gonadotropin resistance; primary hypogonadism

distribution

The frequency is estimated at 1 in 5000.

causes

In the female sex the most common cause is the Turner syndrome , in the male sex the Klinefelter syndrome .

A distinction must be made between innate and acquired forms.

The latter include diseases or disorders of the gonads such as ovarian torsion , orchitis , trauma , ovarian insufficiency , Savage syndrome (Ovarian resistance syndrome), autoimmune diseases , chemotherapy , radiation therapy , toxins and drugs .

Congenital forms are:

• Chromosome mutations with gonadal dysgenesis like
  • Turner Syndrome
  • Klinefelter Syndrome
  • Swyer syndrome
  • Gonadal dysgenesis, 46, XX type
  • mosaic
• Enzyme defects in the biosynthesis of sex hormones such as
  • 17α-hydroxylase deficiency
  • Isolated 17,20 lyase deficiency
  • Testosterone 17β dehydrogenase deficiency
  • Congenital lipoid adrenal hyperplasia due to STAR deficiency
• Gonadotropin - resistance to luteinizing hormone , follicle-stimulating hormone, etc. a. in pseudohypoparathyroidism type Ia

In the context of syndromes

Hypergonadotropic hypogonadism can occur in some syndromes :

• Alopecia-intellectual disability- hypergonadotropic hypogonadism syndrome , synonym: Devriendt-Vendenberghe-Fryns syndrome
• Cardiomyopathy, dilated - hypergonadotropic hypogonadism , synonyms: cardiogenital syndrome; Malouf syndrome; Najjar syndrome
• Hypergonadotropic hypogonadism cataract syndrome , synonym: hypogonadism - cataract
• Hypogonadism, male - mental retardation - skeletal abnormalities ; Synonymous with Sohval-Soffer syndrome
• Mikati-Najjar-Sahli syndrome , synonym: microcephaly - hypergonadotropic hypogonadism - short stature
• Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism syndrome , synonym: Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
• Hypergonadotropic hypogonadism, primary - partial alopecia

Clinical manifestations

In males, there is a deficiency of androgens such as testosterone with delayed or absent puberty , possibly infertility .

In the female sex, there is a lack of estrogens with amenorrhea and ovarian failure with hypoplasia of the uterus .

diagnosis

The gonadotropins in the blood serum are increased and the concentration of testosterone or estrogen is reduced. The plasma level of prolactin is normal.

therapy

Treatment is by replacing the missing hormones .

literature

• Y. Bayram, S. Gulsuner, T. Guran et al .: Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. In: The Journal of clinical endocrinology and metabolism. Vol. 100, No. 5, May 2015, pp. E808 – E814, doi: 10.1210 / jc.2015-1150 , PMID 25774885 , PMC 4422898 (free full text).
• GS Lele, LS Lakade: Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism. In: Journal of the Indian Society of Pedodontics and Preventive Dentistry. Vol. 32, No. 3, 2014 Jul – Sep, pp. 246–250, doi: 10.4103 / 0970-4388.135839 , PMID 25001446 .
• P. Tsimaris, T. Pantelis, N. Vrachnis, V. Nikolaos, Z. Iliodromiti, I. Zoe, E. Deligeoroglou, D. Efthymios: Long-term followup of adolescent and young adult females with hypergonadotropic hypogonadism. In: International journal of endocrinology. Vol. 2012, 2012, p. 862892, doi: 10.1155 / 2012/862892 , PMID 22190931 , PMC 3235457 (free full text).

Individual evidence

1. ↑ ^{a b} Entry on hypogonadism in the Flexikon , a Wiki of the DocCheck company
2. ↑ Amedes-genetics
3. ↑ ^{a b c d} emedicine.medscape
4. ↑ J. P, Mulhall, L. Incrocci, I. Goldstein, R. Rosen (Eds.): Cancer and Sexual Health . 2011, pp. 207-208. ISBN 978-1-60761-916-1
5. ↑ Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome. In: Orphanet (Rare Disease Database).
6. ↑ Cardiomyopathy, dilated - hypergonadotropic hypogonadism. In: Orphanet (Rare Disease Database).
7. ↑ Hypergonadotropic hypogonadism-cataract syndrome. In: Orphanet (Rare Disease Database).
8. ↑ Hypogonadism, male - mental retardation - skeletal anomalies. In: Orphanet (Rare Disease Database).
9. ↑ Mikati-Najjar-Sahli syndrome. In: Orphanet (Rare Disease Database).
10. ↑ Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome. In: Orphanet (Rare Disease Database).
11. ↑ Hypergonadotropic hypogonadism, primary - partial alopecia. In: Orphanet (Rare Disease Database).
12. ↑ Urology textbook, keyword hypogonadism

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