Leydig Cell Hypoplasia, Type I

Alternative Names

  • Leydig Cell Hypoplasia With Male Pseudohermaphroditism
  • Leydig Cell Hypoplasia, Complete
  • Leydig Cell Agenesis
  • Leydig Cell Hypoplasia, Type II
  • Leydig Cell Hypoplasia, Partial
  • Hypergonadotropic Hypogonadism, Male, Due To LHCGR Defect
  • Luteinizing Hormone Resistance, Female
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

238320

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p21

Description

Hypergonadotropic Hypogonadism (HHG) is a condition typified by defective gonadal development and/or function, as a result of elevated levels of gonadotropins. In terms of symptoms, HHG may be very similar to the condition Hypergonadotropic Hypogonadism. However, the underlying cause is the exact opposite. A simple test to measure the levels of gonadotropins in the serum is enough to distinguish between these two conditions. However, differentiating between HHG and constitutional delay in growth is more difficult. This is especially true, if no family history is available.

Treatment involves management with sex steroids; ethinyl estradiol followed by a progestational agent for girls, and testosterone enathate along with human chorionic gonadotropin for boys. Most patients can achieve fertility with the help of hormone treatment.

Molecular Genetics

Familial cases of HHG have shown an autosomal recessive mode of inheritance. Some other studies have indicated a role for mutations in the luteinizing hormone receptor gene, located on chromosome 2p. HHG is also present as one of the features of both Turner (XO) and Klinefelter (XXY) syndromes.

Epidemiology in the Arab World

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Other Reports

Oman

Bhat and Hamdi (2005) reported a 20-year old married female with normal external genitalia, under developed breasts and normal hair distribution, who presented with primary amenorrhea. She had no coital problems, and speculum and vaginal examination revealed a small nulliparous healthy cervix and a small retroverted uterus, which appeared as infantile on ultrasound with streak ovaries. Blood investigations revealed high levels of follicle stimulating hormone (FSH) of 39.05 IU and luteinizing hormone (LH) of 84.9 IU, but normal levels of prolactin and thyroid function tests and normal karyotype of 46 XX. Diagnostic laparoscopy revealed small uterus with normal tubes and bilateral streak ovaries (left smaller than right) which were confirmed by biopsy, as it revealed primary and secondary follicles and corpora albicantia with small follicles with cystic dilatation and attenuation of the cortex, suggestive of gonadal dysgenesis. The patient was subjected to progesterone challenge test which was positive and was started on hormonal therapy (estrogen and progesterone) for life, and was advised on assisted reproductive techniques for conception.

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