Sex Development & Maturation

Specific Conditions

Sex chromosome DSD: Turner syndrome  

Orpha code / ICD code: 881, 484, 1772, 199310

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. The affected individuals have a female appearance but the clinical features are heterogeneous and the typical physical anomalies are often mild or absent. Short stature is present in all cases and cardiovascular diseases are frequent. Ovarian failure, with variable onset depending on the chromosomal anomalies, occurs unavoidably in young age.



Orpha code / ICD code: 2138, 393, 243, 418, 90793/4, 91, 95699

Disorders of gonadal or ovarian development and androgen excess. In 46,XX females, congenital adrenal hyperplasia (CAH) is the most common cause of DSD Almost all infants with 46,XX-related CAH are raised as females; they have the potential for fertility, and they identify with the female gender as adults. However, a few infants with 46,XX-related CAH are raised as males and maintain male self-identification as adults.


Orpha code / ICD code: 242, 251510, 752, 753, 754, 96265/6, 285

Nonsyndromic 46,XY DSD must be distinguished from syndromic forms, in which additional organ systems, growth, and cognitive development may also be affected. 46,XY DSD is charachterised by generally normal physical examination with absence of clinical findings involving organ systems other than the reproductive organs; External genitalia that range from ambiguous to normal female; Internal genitalia that range from absent müllerian structures to a fully developed uterus and fallopian tubes; and Gonads that are characterised as normal testis, ovotestis, dysgenetic testis, or streak.

Kallmann syndrome and normosmic CHH

Orpha code / ICD code: 478, 23866, 174590

Congenital Hypogonadotropic Hypogonadism (CHH) is a developmental disorder due to gonadotropin-releasing hormone (GnRH) deficiency. It is classically divided into two main subgroups: the Kallmann Syndrome (KS) characterised by the association with anosmia or hyposmia and the normoosmic CHH (nCHH). Most CHH cases are diagnosed at the time of puberty due to lack of sexual development, but CHH may also be suspected in infancy in males with cryptorchidism, micropenis or associated non reproductive signs such as the midline defects (palate and dental defects). The CHH has a strong genetic component but is probably a multifactorial pathogenesis. The main clinical features consist of the absence of complete spontaneous gonadal maturation and puberty in both sexes and the partial or total impairment of the sense of smell (anosmia) is generally diagnosed after the pubertal delay. Characteristically, untreated adult males usually have decreased bone density and muscle mass, decreased testicular volume (< 4 mL), erectile dysfunction, diminished libido and infertility. Untreated adult females almost always experience primary amenorrhea with absent, little or normal breast development. However, CHH is multifaceted disease with variable presentation that can be present in several syndromic contexts. Abnormalities frequently associated with CHH can also affect the development of central nervous system or kidneys or limbs or sensory organs (smell, hearing, eyes).

Gender Dysphoria

Orpha code / ICD code: ICD–10 F64

A strong sense of discomfort with, or inappropriateness of, one’s anatomic sex.

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