Reifenstein syndrome

Reifenstein syndrome

Description, Causes and Risk Factors:

Partial androgen sensitivity; a familial form of male pseudohermaphroditism characterized by varying degrees of ambiguous genitalia or hypospadias, postpubertal development of gynecomastia, and infertility associated with seminiferous tubular sclerosis; cryptorchidism may be present, and Leydig cell hypofunction may lead to impotence in later years; chromosomal studies show 46, XY karyotype; X-linked recessive inheritance, caused by mutation in the androgen receptor gene (AR) on Xq.

Individual with Reifenstein syndrome have partial androgen resistance and are detected at birth with variable degrees of pseudohermaphroditism, ranging from hypospadias and undescended testes to a urogenital sinus with perineal opening of the urethra and complete lack of fusion of the scrotum. The karyotype is XY. At puberty, when the tests are physiologically stimulated by endogenous gonadotropins to produce testosterone an incomplete androgen effect may be noted. Subsequently, the penis remains small, the testes usually remain undescended, and the scrotum is poorly developed. Androgen sensitive hair growth is decreased, and muscle mass and strength are diminished in these patients. The estrogen receptors function normally. Therefore, the increased testosterone production at puberty provides an increased sex steroid substrate for the peripheral production of estrogen in either the liver or fat, and marked gynecomastia usually develops. Most commonly, the tests remains within the abdomen. Light microscopic examination shows an absence of normal spermatogenesis and hyalinization of most seminiferous tubules. The Leydig cells appear normal. Serum levels of testosterone and dihydrotestosterone are normal and elevated. Because functional androgen receptors in the pituitary area also decreased, serum LH and FSH levels are elevated. The experiment of nature further demonstrates that serum testosterone, as well as estradiol contributes to normal gonadotropin regulation.

Reifenstein syndrome is one of a group of diseases in which the body is unable to respond appropriately to the male sex hormones (androgens), which include testosterone. As a male baby grows in the womb, male hormones (androgens) are made. This leads to the development of male sex organs.

In this condition, there is a change in the gene that helps the body recognize and use male hormones properly. This leads to problems with the development of the male sex organs. At birth, the baby may have ambiguous genitals, which leads to confusion over the baby's sex.

The syndrome is passed down through families (inherited). Women are not affected but may carry the gene. Males who inherit the gene from their mothers will have the condition. There is a 50% chance that a male child of a mother with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors.

Reifenstein syndrome has been shown to have a heterogenous etiology, with some patients demonstrating a decreased number of normal receptors and others having receptors that are defective, as evidenced by their decreased affinity for dihydroterststerone, their heat lability, and their failure to be stablized by moblybdate. This variability of receptor number or activity may be due to the varied genetic defects that are found in Reifensteine syndrome. An X-linked inheritance if predominant, but in the same case, distinction between X-linked and autosomal recessive inheritance is not clear.


Signs & Symptoms:

    The male patient may have abnormal male genitals.

  • In some of the cases the breasts may develop in the males during puberty.

  • There may be decreased body hair and beard.

  • The patient may also suffer from infertility.

  • Sexual dysfunction is seen in the male patients.


The doctor will perform a physical exam. The male may have:

    Partially developed female sex organs.

  • Small or absent vas deferens (the tubes through which sperm exit the testes).

Tests may include:

    Blood tests.

  • Genetic tests.

  • Sperm count.

  • Testicular biopsy.


Men with Reifenstein syndrome present a difficult problem in gender selection. Unlike their more severely affected counterparts with testicular feminization, these men are usually raised as males. Studies have shown that, although some response may occur to exogenous testosterone therapy, very high dosages are required to achieve an androgenizing effect. Unfortunately, these dosages have not been proven to be safe for long-term treatment of these individuals requires adequate psychological support. Consideration should be given to removing testes if they are located within the abdomen, because they are prone to malignant transformation.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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